Variant report

Variant	esv1816278
Chromosome Location	chr1:145309364-145382362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:938)
CpG islands
(count:305)
Chromatin interactive
region (count:98)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145382074-145383359	K562	blood:	n/a	n/a
2	ATF1	chr1:145382072-145383169	K562	blood:	n/a	n/a
3	ATF2	chr1:145382293-145383421	GM12878	blood:	n/a	n/a
4	ATF2	chr1:145382202-145383239	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:145382163-145383248	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:145382258-145383454	GM12878	blood:	n/a	n/a
7	ATF3	chr1:145382145-145383324	K562	blood:	n/a	chr1:145382499-145382512 chr1:145382411-145382422 chr1:145382498-145382513
8	ATF3	chr1:145382258-145382630	K562	blood:	n/a	chr1:145382499-145382512 chr1:145382411-145382422 chr1:145382498-145382513
9	BACH1	chr1:145382024-145383427	K562	blood:	n/a	n/a
10	BATF	chr1:145368329-145368784	GM12878	blood:	n/a	n/a
11	BATF	chr1:145382295-145383361	GM12878	blood:	n/a	n/a
12	BATF	chr1:145362622-145362781	GM12878	blood:	n/a	n/a
13	BATF	chr1:145337454-145337613	GM12878	blood:	n/a	n/a
14	BATF	chr1:145323297-145323456	GM12878	blood:	n/a	n/a
15	BATF	chr1:145369205-145369460	GM12878	blood:	n/a	n/a
16	BATF	chr1:145310440-145310923	GM12878	blood:	n/a	chr1:145310669-145310677
17	BATF	chr1:145351628-145351787	GM12878	blood:	n/a	n/a
18	BATF	chr1:145310436-145310883	GM12878	blood:	n/a	chr1:145310669-145310677
19	BATF	chr1:145369080-145369247	GM12878	blood:	n/a	n/a
20	BATF	chr1:145380125-145380328	GM12878	blood:	n/a	chr1:145380296-145380307
21	BATF	chr1:145346898-145347057	GM12878	blood:	n/a	n/a
22	BATF	chr1:145356362-145356521	GM12878	blood:	n/a	n/a
23	BATF	chr1:145342174-145342333	GM12878	blood:	n/a	n/a
24	BATF	chr1:145380118-145380478	GM12878	blood:	n/a	chr1:145380296-145380307
25	BATF	chr1:145368315-145369169	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:145368833-145369396	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:145368785-145368995	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:145382283-145383313	GM12878	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
29	BCL11A	chr1:145310496-145310688	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:145372417-145372713	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:145371020-145371254	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:145368346-145368788	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:145310475-145310707	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:145379997-145380178	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:145368357-145368693	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:145371671-145371949	GM12878	blood:	n/a	n/a
37	BCL3	chr1:145382066-145383413	A549	lung:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
38	BCL3	chr1:145382189-145383429	A549	lung:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
39	BCL3	chr1:145382097-145383534	K562	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
40	BCLAF1	chr1:145382199-145383434	GM12878	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
41	BCLAF1	chr1:145382028-145383483	K562	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
42	BCLAF1	chr1:145381965-145383527	K562	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
43	BHLHE40	chr1:145382195-145383320	K562	blood:	n/a	n/a
44	BHLHE40	chr1:145382278-145383374	GM12878	blood:	n/a	n/a
45	BHLHE40	chr1:145382303-145383258	HepG2	liver:	n/a	n/a
46	BRCA1	chr1:145382341-145383199	HepG2	liver:	n/a	n/a
47	BRCA1	chr1:145382228-145383203	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr1:145381809-145383427	K562	blood:	n/a	n/a
49	CBX3	chr1:145381945-145383282	K562	blood:	n/a	n/a
50	CBX3	chr1:145380049-145380493	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145366524-145366574	GM19239	blood:	n/a
2	chr1:145375603-145375653	GM12878	blood:	n/a
3	chr1:145378947-145378997	HepG2	liver:	n/a
4	chr1:145375603-145375653	SKMC	muscle:	n/a
5	chr1:145378947-145378997	GM12891	blood:	n/a
6	chr1:145366536-145366586	HMEC	breast:	n/a
7	chr1:145375603-145375653	SK-N-SH_RA	brain:	n/a
8	chr1:145382340-145382390	AG10803	skin:	n/a
9	chr1:145382340-145382390	MCF-7	breast:	n/a
10	chr1:145378947-145378997	HCM	heart:	n/a
11	chr1:145375603-145375653	MCF10A-Er-Src	breast:	n/a
12	chr1:145375603-145375653	HMEC	breast:	n/a
13	chr1:145378947-145378997	Hepatocyte	liver:	n/a
14	chr1:145378947-145378997	ovcar-3	ovarian:	n/a
15	chr1:145366536-145366586	GM19239	blood:	n/a
16	chr1:145375603-145375653	RPTEC	kidney:	n/a
17	chr1:145378947-145378997	SK-N-MC	brain:	n/a
18	chr1:145382340-145382390	HRPEpiC	eye:	n/a
19	chr1:145366524-145366574	MCF10A-Er-Src	breast:	n/a
20	chr1:145375603-145375653	SK-N-MC	brain:	n/a
21	chr1:145366524-145366574	Caco-2	colon:	n/a
22	chr1:145366524-145366574	HUVEC	blood vessel:	n/a
23	chr1:145366536-145366586	HAEpiC	amniotic membrane:	n/a
24	chr1:145382340-145382390	HEEpiC	esophagus:	n/a
25	chr1:145378947-145378997	Jurkat	blood:	n/a
26	chr1:145366536-145366586	HRE	kidney:	n/a
27	chr1:145378947-145378997	U87	brain:	n/a
28	chr1:145366536-145366586	HepG2	liver:	n/a
29	chr1:145375603-145375653	BJ	skin:	n/a
30	chr1:145366524-145366574	NB4	blood:	n/a
31	chr1:145366524-145366574	ProgFib	skin:	n/a
32	chr1:145366536-145366586	SKMC	muscle:	n/a
33	chr1:145366536-145366586	PrEC	prostate:	n/a
34	chr1:145375603-145375653	K562	blood:	n/a
35	chr1:145375603-145375653	HRCEpiC	kidney:	n/a
36	chr1:145366524-145366574	GM12892	blood:	n/a
37	chr1:145382340-145382390	Hela-S3	cervix:	n/a
38	chr1:145366524-145366574	U87	brain:	n/a
39	chr1:145378947-145378997	HEK293	kidney:	embryo
40	chr1:145378947-145378997	GM06990	blood:	n/a
41	chr1:145375603-145375653	H1-hESC	embryonic stem cell:	embryo
42	chr1:145378947-145378997	AoSMC	blood vessel:	n/a
43	chr1:145366524-145366574	AoSMC	blood vessel:	n/a
44	chr1:145382340-145382390	RPTEC	kidney:	n/a
45	chr1:145375603-145375653	GM12891	blood:	n/a
46	chr1:145378947-145378997	AG04449	skin:	fetal
47	chr1:145378947-145378997	IMR90	lung:	fetal
48	chr1:145366536-145366586	LNCaP	prostate:	n/a
49	chr1:145375603-145375653	IMR90	lung:	fetal
50	chr1:145375603-145375653	Hela-S3	cervix:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:145381557..145383925-chr1:145469387..145471026,2	MCF-7	breast:
2	chr1:145382315..145383008-chr5:180649889..180650790,2	Hela-S3	cervix:
3	chr1:16947176..16949630-chr1:145380133..145382299,2	K562	blood:
4	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
5	chr1:145382302..145383155-chr5:159826519..159827329,2	Hela-S3	cervix:
6	chr1:145381650..145383159-chr20:52208938..52210916,2	MCF-7	breast:
7	chr1:145374045..145378813-chr1:145381593..145384779,5	MCF-7	breast:
8	chr1:145381364..145383003-chr6:30708944..30710900,2	MCF-7	breast:
9	chr1:145380937..145386297-chr1:145506337..145510366,6	MCF-7	breast:
10	chr1:145382244..145383020-chr2:148777927..148778778,2	HCT-116	colon:
11	chr1:145381635..145384509-chr17:56768642..56771378,2	MCF-7	breast:
12	chr1:145382200..145383098-chr12:120638839..120639392,2	Hela-S3	cervix:
13	chr1:145382062..145382923-chr1:149194189..149194753,3	Hela-S3	cervix:
14	chr1:17230015..17233047-chr1:145379825..145384079,5	K562	blood:
15	chr1:145379802..145384450-chr1:145513670..145517902,5	MCF-7	breast:
16	chr1:145382235..145384711-chr1:145547500..145550592,4	K562	blood:
17	chr1:145381301..145383000-chr2:38976945..38978478,2	MCF-7	breast:
18	chr1:145381421..145384908-chr1:145408929..145417696,14	MCF-7	breast:
19	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
20	chr1:145382267..145382936-chr6:134495932..134496686,2	Hela-S3	cervix:
21	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
22	chr1:145381411..145383817-chr11:65849842..65852203,2	MCF-7	breast:
23	chr1:145380816..145383250-chr20:55838040..55840941,2	MCF-7	breast:
24	chr1:145379178..145384447-chr1:149221650..149226208,18	MCF-7	breast:
25	chr1:145381466..145384269-chr1:145514221..145517320,3	K562	blood:
26	chr1:145381291..145384278-chr15:56284107..56286728,2	MCF-7	breast:
27	chr1:145382237..145382965-chr17:62223264..62223774,2	MCF-7	breast:
28	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
29	chr1:145377352..145378949-chr1:145381369..145383840,2	K562	blood:
30	chr1:145382329..145383664-chr15:65596532..65597673,5	Hela-S3	cervix:
31	chr1:145381607..145383149-chr1:146549334..146552301,2	MCF-7	breast:
32	chr1:145382065..145383019-chr1:154155530..154156311,2	Hela-S3	cervix:
33	chr1:145382327..145383019-chr17:58155992..58156742,2	MCF-7	breast:
34	chr1:145381741..145382340-chr15:60689392..60689967,2	Hela-S3	cervix:
35	chr1:145382193..145382939-chr17:57914839..57915635,2	MCF-7	breast:
36	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
37	chr1:145381186..145383142-chr1:153329584..153331437,2	MCF-7	breast:
38	chr1:145382262..145383113-chr18:12883770..12884685,2	Hela-S3	cervix:
39	chr1:145382318..145383330-chr15:85524205..85525487,4	Hela-S3	cervix:
40	chr1:145381376..145384239-chr17:58601344..58603429,2	MCF-7	breast:
41	chr1:36851173..36851900-chr1:145382309..145383265,2	HCT-116	colon:
42	chr1:145381739..145384542-chr1:145435430..145438721,5	MCF-7	breast:
43	chr1:145381407..145384364-chr17:56734913..56736729,3	MCF-7	breast:
44	chr1:145381393..145385302-chr1:145468144..145470495,5	K562	blood:
45	chr1:145012679..145016226-chr1:145380619..145383924,3	K562	blood:
46	chr1:145381395..145383043-chr6:26157864..26159582,2	MCF-7	breast:
47	chr1:145382282..145382834-chr5:179247501..179248079,2	Hela-S3	cervix:
48	chr1:17183995..17186880-chr1:145382064..145384021,2	K562	blood:
49	chr1:145377352..145378949-chr1:145381369..145383840,2	K562	blood:
50	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145320511-145320619	NR_104217
2	lnc-POLR3GL-1	chr1:145376167-145376447	ENSG00000233396
3	lnc-POLR3GL-2	chr1:145375343-145375554	ENSG00000227280.1
4	lnc-NOTCH2NL-2	chr1:145317406-145317457	NR_104217
5	lnc-POLR3GL-1	chr1:145372088-145373798	NONHSAT005886
6	lnc-POLR3GL-1	chr1:145376544-145376705	NONHSAT005888
7	lnc-POLR3GL-2	chr1:145373054-145373507	ENSG00000227280.1
8	lnc-POLR3GL-1	chr1:145377701-145377772	ENSG00000233396
9	lnc-NOTCH2NL-2	chr1:145311103-145311154	NR_104217
10	lnc-POLR3GL-1	chr1:145373296-145373507	ENSG00000233396.3
11	lnc-NOTCH2NL-2	chr1:145316512-145316684	NR_104217
12	lnc-POLR3GL-1	chr1:145373054-145373507	NONHSAT005887
13	lnc-NOTCH2NL-2	chr1:145318936-145318987	NR_104217
14	lnc-POLR3GL-1	chr1:145377107-145377311	NONHSAT005894
15	lnc-POLR3GL-1	chr1:145377701-145377822	NONHSAT005894
16	lnc-POLR3GL-1	chr1:145376544-145376692	ENSG00000233396.3
17	lnc-NOTCH2NL-2	chr1:145309900-145310063	NR_104217
18	lnc-POLR3GL-1	chr1:145375343-145375672	NONHSAT005887
19	lnc-NOTCH2NL-2	chr1:145318054-145318226	NR_104217
20	lnc-NOTCH2NL-2	chr1:145368441-145369446	NR_104217
21	lnc-POLR3GL-1	chr1:145377017-145377311	ENSG00000233396.3
22	lnc-POLR3GL-1	chr1:145375583-145376447	NONHSAT005888
23	lnc-NOTCH2NL-2	chr1:145369718-145370303	NR_104217
24	lnc-POLR3GL-1	chr1:145377017-145377311	ENSG00000233396
25	lnc-NOTCH2NL-2	chr1:145319624-145319796	NR_104217

No data

Variant related genes	Relation type
ENSG00000233396	TF binding region
RNVU1-6	TF binding region
ENSG00000233396	CpG island
RNVU1-6	CpG island
ENSG00000115875	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000186141	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000168291	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000152022	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000155254	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000131779	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000211451	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000163220	chromatin interactions
ENSG00000186364	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000131795	chromatin interactions
ENSG00000263811	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000207349	chromatin interactions
ENSG00000131788	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000168894	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000129474	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000234222	chromatin interactions
ENSG00000258457	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000221886	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000159363	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000115947	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000196182	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000201142	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000181039	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000204406	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000244619	chromatin interactions
ENSG00000125844	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000198483	chromatin interactions
ENSG00000259132	chromatin interactions
ENSG00000121851	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000073417	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000168509	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000177144	chromatin interactions
ENSG00000069869	chromatin interactions

Extended variants
information (count: 1990 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:1990 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587604139	chr1:145309368-145309369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587664645	chr1:145309371-145309372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11484514	chr1:145309375-145309376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587766631	chr1:145309384-145309385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201203424	chr1:145309401-145309402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587639850	chr1:145309420-145309421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9424887	chr1:145309463-145309464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587682572	chr1:145309644-145309645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587762276	chr1:145309665-145309666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199745496	chr1:145309739-145309740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587637723	chr1:145309842-145309843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4067386	chr1:145309867-145309868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587691302	chr1:145309875-145309876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587749596	chr1:145309886-145309887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201947016	chr1:145309892-145309893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371550307	chr1:145309925-145309926	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs587618556	chr1:145309929-145309930	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs587682383	chr1:145309931-145309932	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs587764017	chr1:145309959-145309960	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs587646651	chr1:145309984-145309985	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs587702149	chr1:145309997-145309998	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs9424730	chr1:145310063-145310064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs112242379	chr1:145310070-145310071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587761993	chr1:145310072-145310073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587658413	chr1:145310118-145310119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587705583	chr1:145310144-145310145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587609083	chr1:145310148-145310149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587637143	chr1:145310160-145310161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587743858	chr1:145310184-145310185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7554921	chr1:145310197-145310198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587617285	chr1:145310206-145310207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587625485	chr1:145310241-145310242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368220781	chr1:145310248-145310249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201358084	chr1:145310251-145310252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10910795	chr1:145310282-145310283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7546107	chr1:145310283-145310284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9424731	chr1:145310300-145310301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9424892	chr1:145310313-145310314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9424732	chr1:145310335-145310336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9424733	chr1:145310361-145310362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201979718	chr1:145310405-145310406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587682511	chr1:145310431-145310432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9424734	chr1:145310439-145310440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587764483	chr1:145310454-145310455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587597758	chr1:145310487-145310488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200121166	chr1:145310531-145310532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9424893	chr1:145310563-145310564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61816362	chr1:145310568-145310569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373481059	chr1:145310596-145310597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377566660	chr1:145310761-145310762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:170)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	20808228	CNVD
Autism	22102821	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145277800-145323400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:145282000-145325400	Weak transcription	Fetal Brain Female	brain
3	chr1:145283000-145318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:145283800-145311200	Weak transcription	Stomach Mucosa	stomach
5	chr1:145290800-145313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:145290800-145323400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:145290800-145328000	Weak transcription	Small Intestine	intestine
8	chr1:145291000-145323400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:145291000-145323600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:145291000-145324000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:145292800-145313000	Weak transcription	NHDF-Ad	bronchial
12	chr1:145293000-145310000	Weak transcription	Dnd41	blood
13	chr1:145293400-145310000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:145293400-145313800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:145293400-145331400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:145293600-145311800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:145293800-145323400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:145293800-145332200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:145294000-145311000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:145294000-145323800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:145294600-145332200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:145297000-145310000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:145297000-145323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:145297000-145325000	Weak transcription	Left Ventricle	heart
25	chr1:145297000-145327600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:145297000-145328000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:145297000-145328000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:145297000-145332600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:145297200-145332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:145298000-145310000	Weak transcription	Colonic Mucosa	Colon
31	chr1:145298000-145318200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:145298000-145325200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:145298200-145310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:145298200-145310000	Weak transcription	Thymus	Thymus
35	chr1:145298200-145311400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:145298200-145316200	Weak transcription	NHEK	skin
37	chr1:145298200-145325400	Weak transcription	Right Ventricle	heart
38	chr1:145298800-145310000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:145298800-145310000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:145298800-145310000	Weak transcription	Fetal Thymus	thymus
41	chr1:145298800-145310800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:145298800-145312800	Weak transcription	HMEC	breast
43	chr1:145298800-145313800	Weak transcription	NHLF	lung
44	chr1:145298800-145314600	Weak transcription	NH-A	brain
45	chr1:145298800-145318200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:145298800-145325400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:145298800-145332400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:145304200-145309400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:145304200-145310000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:145304200-145310000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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