Variant report

Variant	nsv873073
Chromosome Location	chr1:197107074-197221248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2021)
CpG islands
(count:1832)
Chromatin interactive
region (count:116)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:2021 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:197170259-197171301	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:197115609-197116380	K562	blood:	n/a	n/a
3	ARID3A	chr1:197169385-197169814	K562	blood:	n/a	n/a
4	ARID3A	chr1:197170530-197171305	K562	blood:	n/a	n/a
5	ARID3A	chr1:197115676-197116328	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:197112143-197112170	K562	blood:	n/a	n/a
7	ARID3A	chr1:197168611-197169006	K562	blood:	n/a	n/a
8	ARID3A	chr1:197148161-197148543	K562	blood:	n/a	n/a
9	ARID3A	chr1:197142850-197143703	HepG2	liver:	n/a	n/a
10	ATF1	chr1:197182375-197182561	K562	blood:	n/a	n/a
11	ATF1	chr1:197115660-197116278	K562	blood:	n/a	n/a
12	ATF1	chr1:197170194-197170835	K562	blood:	n/a	n/a
13	ATF1	chr1:197219011-197219207	K562	blood:	n/a	n/a
14	ATF2	chr1:197170451-197171192	GM12878	blood:	n/a	n/a
15	ATF2	chr1:197115463-197116052	GM12878	blood:	n/a	n/a
16	ATF2	chr1:197170121-197170977	GM12878	blood:	n/a	n/a
17	ATF2	chr1:197170452-197170871	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr1:197170462-197170888	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:197115869-197116225	GM12878	blood:	n/a	n/a
20	ATF3	chr1:197170234-197170693	K562	blood:	n/a	n/a
21	ATF3	chr1:197170398-197170985	A549	lung:	n/a	n/a
22	ATF3	chr1:197170407-197170931	A549	lung:	n/a	n/a
23	BACH1	chr1:197170609-197170882	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr1:197162983-197163017	K562	blood:	n/a	n/a
25	BACH1	chr1:197115545-197115832	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr1:197148085-197148442	K562	blood:	n/a	n/a
27	BACH1	chr1:197169652-197169753	K562	blood:	n/a	n/a
28	BACH1	chr1:197109159-197109190	K562	blood:	n/a	n/a
29	BACH1	chr1:197115244-197115303	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr1:197170495-197170792	GM12878	blood:	n/a	n/a
31	BATF	chr1:197148116-197148453	GM12878	blood:	n/a	chr1:197148311-197148322
32	BCL3	chr1:197170442-197170998	A549	lung:	n/a	chr1:197170526-197170539 chr1:197170492-197170501
33	BCLAF1	chr1:197170501-197170980	GM12878	blood:	n/a	chr1:197170526-197170539
34	BCLAF1	chr1:197170474-197170940	GM12878	blood:	n/a	chr1:197170526-197170539 chr1:197170492-197170501
35	BCLAF1	chr1:197169892-197170481	GM12878	blood:	n/a	chr1:197170369-197170382 chr1:197170427-197170436
36	BHLHE40	chr1:197170008-197170942	GM12878	blood:	n/a	chr1:197170374-197170390
37	BHLHE40	chr1:197114605-197114608	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:197111610-197111637	GM12878	blood:	n/a	n/a
39	BHLHE40	chr1:197150951-197151527	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:197115678-197116228	GM12878	blood:	n/a	n/a
41	BHLHE40	chr1:197170090-197170951	K562	blood:	n/a	chr1:197170374-197170390
42	BHLHE40	chr1:197166826-197167245	K562	blood:	n/a	n/a
43	BHLHE40	chr1:197128733-197128735	K562	blood:	n/a	n/a
44	BHLHE40	chr1:197115209-197116304	K562	blood:	n/a	n/a
45	BHLHE40	chr1:197169772-197169789	K562	blood:	n/a	n/a
46	BHLHE40	chr1:197170221-197170867	HepG2	liver:	n/a	chr1:197170374-197170390
47	BRCA1	chr1:197114072-197114534	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr1:197169515-197171411	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr1:197115668-197116391	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr1:197170253-197170278	HepG2	liver:	n/a	n/a

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:197169700-197169750	ovcar-3	ovarian:	n/a
2	chr1:197149498-197149548	SKMC	muscle:	n/a
3	chr1:197169700-197169750	ovcar-3	ovarian:	n/a
4	chr1:197149498-197149548	SKMC	muscle:	n/a
5	chr1:197115812-197115862	HEEpiC	esophagus:	n/a
6	chr1:197170200-197170250	NB4	blood:	n/a
7	chr1:197116622-197116672	MCF10A-Er-Src	breast:	n/a
8	chr1:197115894-197115944	AG09319	gingival:	n/a
9	chr1:197115894-197115944	HCM	heart:	n/a
10	chr1:197115979-197116029	MCF10A-Er-Src	breast:	n/a
11	chr1:197168834-197168884	CMK	blood:	n/a
12	chr1:197170599-197170649	RPTEC	kidney:	n/a
13	chr1:197115958-197116008	Caco-2	colon:	n/a
14	chr1:197115894-197115944	HCPEpiC	choroid plexus:	n/a
15	chr1:197115927-197115977	MCF10A-Er-Src	breast:	n/a
16	chr1:197169700-197169750	HL-60	blood:	n/a
17	chr1:197170200-197170250	Hela-S3	cervix:	n/a
18	chr1:197116190-197116240	NHDF-neo	bronchial:	n/a
19	chr1:197115964-197116014	U87	brain:	n/a
20	chr1:197116190-197116240	T-47D	breast:	n/a
21	chr1:197170353-197170403	AG09319	gingival:	n/a
22	chr1:197149498-197149548	RPTEC	kidney:	n/a
23	chr1:197115964-197116014	AoSMC	blood vessel:	n/a
24	chr1:197115841-197115891	GM19239	blood:	n/a
25	chr1:197169849-197169899	GM12891	blood:	n/a
26	chr1:197169849-197169899	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:197116622-197116672	NT2-D1	testis:	n/a
28	chr1:197170599-197170649	AG04450	lung:	fetal
29	chr1:197191386-197191436	HCM	heart:	n/a
30	chr1:197170599-197170649	HRCEpiC	kidney:	n/a
31	chr1:197168091-197168141	SK-N-SH_RA	brain:	n/a
32	chr1:197115979-197116029	HCPEpiC	choroid plexus:	n/a
33	chr1:197170372-197170422	Caco-2	colon:	n/a
34	chr1:197169957-197170007	NHDF-neo	bronchial:	n/a
35	chr1:197191386-197191436	NH-A	brain:	n/a
36	chr1:197169957-197170007	NT2-D1	testis:	n/a
37	chr1:197116161-197116211	HRE	kidney:	n/a
38	chr1:197115894-197115944	MCF10A-Er-Src	breast:	n/a
39	chr1:197173499-197173549	GM12892	blood:	n/a
40	chr1:197115812-197115862	HepG2	liver:	n/a
41	chr1:197168091-197168141	LNCaP	prostate:	n/a
42	chr1:197168834-197168884	HRPEpiC	eye:	n/a
43	chr1:197170599-197170649	HCPEpiC	choroid plexus:	n/a
44	chr1:197116161-197116211	HL-60	blood:	n/a
45	chr1:197169957-197170007	GM19239	blood:	n/a
46	chr1:197115964-197116014	NHDF-neo	bronchial:	n/a
47	chr1:197115812-197115862	AG10803	skin:	n/a
48	chr1:197115958-197116008	Hela-S3	cervix:	n/a
49	chr1:197115504-197115554	IMR90	lung:	fetal
50	chr1:197169957-197170007	ProgFib	skin:	n/a

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:197153871..197156046-chr1:197157510..197159147,2	K562	blood:
2	chr1:197169893..197170505-chr16:88637472..88637972,2	MCF-7	breast:
3	chr1:197185992..197188090-chr1:197191988..197194131,2	K562	blood:
4	chr1:197145604..197149489-chr1:197168238..197172355,4	K562	blood:
5	chr1:196919526..196921876-chr1:197123089..197124599,2	K562	blood:
6	chr1:197148315..197153030-chr1:197158427..197161690,6	K562	blood:
7	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
8	chr1:197165132..197167397-chr1:197181290..197183417,2	K562	blood:
9	chr1:197112460..197117731-chr1:197129268..197134426,6	K562	blood:
10	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
11	chr1:197148315..197153030-chr1:197158427..197161690,6	K562	blood:
12	chr1:197128463..197130578-chr1:197135579..197137702,2	K562	blood:
13	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:
14	chr1:197114271..197116191-chr1:197145410..197147153,2	K562	blood:
15	chr1:197169683..197171827-chr1:197178266..197181117,3	K562	blood:
16	chr1:197170256..197172122-chr1:197179665..197181460,2	MCF-7	breast:
17	chr1:197165132..197167397-chr1:197181290..197183417,2	K562	blood:
18	chr1:197169953..197172580-chr1:197177266..197179766,2	K562	blood:
19	chr1:197169269..197170964-chr1:197192180..197194150,2	K562	blood:
20	chr1:197165634..197167836-chr1:197312237..197315122,2	K562	blood:
21	chr1:197114016..197115684-chr1:197163598..197165339,2	K562	blood:
22	chr1:197126302..197127851-chr1:197131460..197133305,2	K562	blood:
23	chr1:197170728..197171396-chr5:179050478..179051116,2	Hela-S3	cervix:
24	chr1:197170132..197172139-chr1:197185783..197189433,4	K562	blood:
25	chr1:197149643..197151239-chr1:197155881..197158669,2	K562	blood:
26	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:
27	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
28	chr1:197100050..197103962-chr1:197110434..197115621,7	K562	blood:
29	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
30	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:
31	chr1:197114016..197115684-chr1:197163598..197165339,2	K562	blood:
32	chr1:197194857..197196547-chr1:197201975..197204320,2	MCF-7	breast:
33	chr1:197147159..197149078-chr1:197192241..197194774,2	MCF-7	breast:
34	chr1:184432671..184433205-chr1:197124489..197125436,2	MCF-7	breast:
35	chr1:197134959..197137671-chr1:197138755..197140780,2	K562	blood:
36	chr1:197194857..197196547-chr1:197201975..197204320,2	MCF-7	breast:
37	chr1:197088400..197091064-chr1:197110423..197113146,2	K562	blood:
38	chr1:197170147..197170772-chr15:59981162..59981764,2	Hela-S3	cervix:
39	chr1:197149425..197151653-chr1:197409598..197412444,2	K562	blood:
40	chr1:197110180..197113762-chr1:197163844..197167381,3	K562	blood:
41	chr1:197161517..197163826-chr1:197164890..197167674,2	K562	blood:
42	chr1:197151363..197153839-chr1:197168953..197170601,2	K562	blood:
43	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:
44	chr1:197136628..197139600-chr1:197145114..197148034,2	MCF-7	breast:
45	chr1:197149215..197150102-chr1:197326053..197326779,3	MCF-7	breast:
46	chr1:197202983..197205344-chr1:197206027..197208086,2	K562	blood:
47	chr1:197138291..197140418-chr1:197170126..197171757,2	MCF-7	breast:
48	chr1:197117346..197120287-chr1:197339485..197341167,2	K562	blood:
49	chr1:197108980..197111975-chr1:197160260..197161833,2	K562	blood:
50	chr1:197153884..197156331-chr1:197167263..197169035,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPM-1	chr1:197136163-197136321	NONHSAT008612
2	lnc-ASPM-1	chr1:197172978-197173162	NONHSAT008612
3	lnc-CFHR5-2	chr1:197170771-197172215	NONHSAT008616
4	lnc-ASPM-1	chr1:197135770-197136321	NONHSAT008615
5	lnc-CFHR5-3	chr1:197191352-197192385	NONHSAT008617
6	lnc-CFHR5-4	chr1:197220421-197221152	NONHSAT008619
7	lnc-CFHR5-4	chr1:197219376-197219420	NONHSAT008619
8	lnc-CFHR5-4	chr1:197220421-197220953	NONHSAT008618
9	lnc-CFHR5-4	chr1:197219073-197219234	NONHSAT008618
10	lnc-ASPM-1	chr1:197172978-197173181	NONHSAT008615
11	lnc-CFHR5-4	chr1:197219642-197219781	NONHSAT008618
12	lnc-CFHR5-4	chr1:197219642-197219781	NONHSAT008619
13	lnc-ZBTB41-2	chr1:197107878-197108437	NONHSAT008613
14	lnc-ASPM-1	chr1:197134241-197136321	ucscGeneNc_uc001guz_1
15	lnc-ASPM-1	chr1:197172978-197173181	ucscGeneNc_uc001guz_1

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZBTB41	hsa-miR-93-5p	chr1:197127045-197127065
2	ZBTB41	hsa-miR-93-5p	chr1:197127238-197127232
3	ZBTB41	hsa-miR-374b-5p	chr1:197126423-197126443
4	ZBTB41	hsa-miR-93-5p	chr1:197127051-197127045
5	ZBTB41	hsa-miR-93-5p	chr1:197127232-197127255
6	ZBTB41	hsa-miR-374b-5p	chr1:197126567-197126589
7	ZBTB41	hsa-miR-374b-5p	chr1:197126457-197126479

Variant related genes	Relation type
CRB1	TF binding region
ENSG00000237861	TF binding region
ENSG00000235748	TF binding region
ZBTB41	TF binding region
ASPM	TF binding region
CRB1	CpG island
ENSG00000237861	CpG island
ENSG00000235748	CpG island
ZBTB41	CpG island
ASPM	CpG island
ENSG00000204511	chromatin interactions
ENSG00000023572	chromatin interactions
ENSG00000140299	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000066279	chromatin interactions
ENSG00000259884	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000134376	chromatin interactions
ENSG00000177888	chromatin interactions
ENSG00000237861	chromatin interactions
ENSG00000197903	chromatin interactions

Extended variants
information (count: 3748 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3748 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55991447	chr1:197107074-197107075	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199566838	chr1:197107095-197107096	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544986616	chr1:197107111-197107112	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560788520	chr1:197107122-197107123	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533599952	chr1:197107174-197107175	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs16841135	chr1:197107197-197107198	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs71631886	chr1:197107285-197107286	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143625817	chr1:197107286-197107287	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372578015	chr1:197107307-197107308	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138792632	chr1:197107358-197107359	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182159805	chr1:197107419-197107420	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549983009	chr1:197107425-197107426	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534496366	chr1:197107438-197107439	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200515594	chr1:197107442-197107443	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571343620	chr1:197107471-197107472	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185863790	chr1:197107475-197107476	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375865817	chr1:197107492-197107493	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547360574	chr1:197107508-197107509	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552877975	chr1:197107513-197107514	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566435162	chr1:197107542-197107543	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35191986	chr1:197107560-197107561	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141962341	chr1:197107576-197107577	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555578998	chr1:197107590-197107591	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573752597	chr1:197107594-197107595	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111256297	chr1:197107612-197107613	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1141886	chr1:197107629-197107630	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs1141885	chr1:197107632-197107633	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs145672162	chr1:197107642-197107643	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577784143	chr1:197107690-197107691	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190319597	chr1:197107719-197107720	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138300677	chr1:197107720-197107721	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548759499	chr1:197107753-197107754	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558356710	chr1:197107757-197107758	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567292636	chr1:197107789-197107790	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112174053	chr1:197107800-197107801	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542947089	chr1:197107804-197107805	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561556034	chr1:197107819-197107820	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537438432	chr1:197107820-197107821	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531799668	chr1:197107821-197107822	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113851694	chr1:197107846-197107847	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565061397	chr1:197107889-197107890	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs111898030	chr1:197107892-197107893	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs375403120	chr1:197107909-197107910	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs375827617	chr1:197107963-197107964	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs181236433	chr1:197107969-197107970	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs547397488	chr1:197107979-197107980	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs565729361	chr1:197107983-197107984	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs185331903	chr1:197108001-197108002	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs115728332	chr1:197108012-197108013	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs78484497	chr1:197108117-197108118	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2592 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
3	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
7	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:197083600-197108000	Strong transcription	HUVEC	blood vessel
9	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:197089800-197108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:197093800-197108400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:197099200-197109600	Weak transcription	HepG2	liver
16	chr1:197100400-197109000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:197100400-197109600	Weak transcription	NHLF	lung
18	chr1:197100400-197112800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:197100400-197113600	Weak transcription	HSMM	muscle
20	chr1:197100600-197108200	Weak transcription	Fetal Heart	heart
21	chr1:197100600-197111200	Weak transcription	NH-A	brain
22	chr1:197100600-197113000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:197100800-197107400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:197100800-197114200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:197101000-197107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:197101000-197107600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:197101000-197108800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:197101000-197108800	Weak transcription	HMEC	breast
29	chr1:197101000-197109200	Weak transcription	Osteobl	bone
30	chr1:197101000-197109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:197101000-197110800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:197101200-197107600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:197101200-197109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:197101200-197109600	Weak transcription	NHEK	skin
35	chr1:197101200-197113000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:197101600-197107400	Weak transcription	GM12878-XiMat	blood
37	chr1:197101800-197107200	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:197102600-197107400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:197102600-197113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:197102800-197107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:197103000-197107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:197103000-197108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:197103000-197108200	Weak transcription	NHDF-Ad	bronchial
44	chr1:197103000-197109200	Weak transcription	Fetal Lung	lung
45	chr1:197104000-197107200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:197104600-197107400	Weak transcription	Hela-S3	cervix
47	chr1:197104600-197107600	Weak transcription	K562	blood
48	chr1:197104600-197109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:197104600-197113600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:197105200-197108200	Weak transcription	A549	lung

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