Variant report

Variant	nsv1002027
Chromosome Location	chr2:112679182-112861534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3465)
CpG islands
(count:1648)
Chromatin interactive
region (count:176)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3465 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112783607-112784557	K562	blood:	n/a	n/a
2	ARID3A	chr2:112703622-112704474	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:112806147-112806718	K562	blood:	n/a	n/a
4	ARID3A	chr2:112805179-112805769	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:112732719-112733300	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:112806078-112806756	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:112690448-112690842	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:112744802-112745917	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:112684236-112684598	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:112799144-112799425	K562	blood:	n/a	n/a
11	ARID3A	chr2:112718544-112718704	K562	blood:	n/a	n/a
12	ARID3A	chr2:112787767-112787798	K562	blood:	n/a	n/a
13	ARID3A	chr2:112724786-112724936	K562	blood:	n/a	n/a
14	ARID3A	chr2:112813783-112814611	K562	blood:	n/a	n/a
15	ARID3A	chr2:112779183-112779733	K562	blood:	n/a	n/a
16	ARID3A	chr2:112811287-112812109	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:112812795-112813132	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:112702097-112703171	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:112710527-112710632	K562	blood:	n/a	n/a
20	ARID3A	chr2:112752812-112753195	HepG2	liver:	n/a	n/a
21	ARID3A	chr2:112731373-112731682	K562	blood:	n/a	n/a
22	ARID3A	chr2:112812791-112813096	K562	blood:	n/a	n/a
23	ATF1	chr2:112703801-112704001	K562	blood:	n/a	n/a
24	ATF1	chr2:112758963-112759359	K562	blood:	n/a	n/a
25	ATF1	chr2:112842256-112842596	K562	blood:	n/a	n/a
26	ATF1	chr2:112831568-112831954	K562	blood:	n/a	n/a
27	ATF1	chr2:112778936-112779811	K562	blood:	n/a	n/a
28	ATF1	chr2:112813843-112814306	K562	blood:	n/a	n/a
29	ATF1	chr2:112805505-112805899	K562	blood:	n/a	n/a
30	ATF1	chr2:112799136-112799348	K562	blood:	n/a	n/a
31	ATF1	chr2:112784021-112784532	K562	blood:	n/a	n/a
32	ATF2	chr2:112812676-112813143	GM12878	blood:	n/a	n/a
33	ATF2	chr2:112844825-112845376	GM12878	blood:	n/a	n/a
34	ATF2	chr2:112844901-112845259	GM12878	blood:	n/a	n/a
35	ATF3	chr2:112779208-112779701	K562	blood:	n/a	n/a
36	ATF3	chr2:112732638-112733116	A549	lung:	n/a	n/a
37	ATF3	chr2:112813705-112814354	K562	blood:	n/a	n/a
38	BACH1	chr2:112812814-112813029	K562	blood:	n/a	n/a
39	BACH1	chr2:112812751-112814212	H1-hESC	embryonic stem cell:	n/a	chr2:112814156-112814170
40	BACH1	chr2:112811533-112812149	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr2:112776280-112776285	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:112833222-112833224	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr2:112710455-112710659	K562	blood:	n/a	n/a
44	BACH1	chr2:112680681-112680804	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr2:112779206-112779969	K562	blood:	n/a	chr2:112779418-112779432
46	BATF	chr2:112833479-112833816	GM12878	blood:	n/a	chr2:112833616-112833627 chr2:112833617-112833627
47	BATF	chr2:112820456-112820809	GM12878	blood:	n/a	n/a
48	BATF	chr2:112833474-112833759	GM12878	blood:	n/a	chr2:112833616-112833627 chr2:112833617-112833627
49	BATF	chr2:112740397-112740687	GM12878	blood:	n/a	n/a
50	BATF	chr2:112823598-112823858	GM12878	blood:	n/a	chr2:112823748-112823759

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112811719-112811769	AG09319	gingival:	n/a
2	chr2:112811719-112811769	AG09319	gingival:	n/a
3	chr2:112704577-112704627	HCT-116	colon:	n/a
4	chr2:112814452-112814502	Caco-2	colon:	n/a
5	chr2:112813174-112813224	GM12878	blood:	n/a
6	chr2:112812951-112813001	HIPEpiC	eye:	n/a
7	chr2:112812130-112812180	AG04450	lung:	fetal
8	chr2:112812130-112812180	K562	blood:	n/a
9	chr2:112812628-112812678	CMK	blood:	n/a
10	chr2:112813613-112813663	HCM	heart:	n/a
11	chr2:112813613-112813663	AG04449	skin:	fetal
12	chr2:112786451-112786501	AoSMC	blood vessel:	n/a
13	chr2:112704577-112704627	ECC-1	luminal epithelium:	n/a
14	chr2:112813613-112813663	BJ	skin:	n/a
15	chr2:112812951-112813001	A549	lung:	n/a
16	chr2:112811924-112811974	A549	lung:	n/a
17	chr2:112812951-112813001	HL-60	blood:	n/a
18	chr2:112812167-112812217	Caco-2	colon:	n/a
19	chr2:112840043-112840093	MCF10A-Er-Src	breast:	n/a
20	chr2:112850905-112850955	LNCaP	prostate:	n/a
21	chr2:112816903-112816953	HEEpiC	esophagus:	n/a
22	chr2:112704577-112704627	K562	blood:	n/a
23	chr2:112808038-112808088	GM19239	blood:	n/a
24	chr2:112814452-112814502	AG09309	skin:	n/a
25	chr2:112816903-112816953	PrEC	prostate:	n/a
26	chr2:112811810-112811860	GM12891	blood:	n/a
27	chr2:112822975-112823025	PrEC	prostate:	n/a
28	chr2:112812957-112813007	HRPEpiC	eye:	n/a
29	chr2:112850905-112850955	HCF	heart:	n/a
30	chr2:112813613-112813663	RPTEC	kidney:	n/a
31	chr2:112814041-112814091	BJ	skin:	n/a
32	chr2:112812621-112812671	GM19239	blood:	n/a
33	chr2:112813174-112813224	GM12892	blood:	n/a
34	chr2:112814041-112814091	HepG2	liver:	n/a
35	chr2:112808038-112808088	HIPEpiC	eye:	n/a
36	chr2:112812756-112812806	HEEpiC	esophagus:	n/a
37	chr2:112814041-112814091	IMR90	lung:	fetal
38	chr2:112811924-112811974	HRCEpiC	kidney:	n/a
39	chr2:112816903-112816953	SK-N-MC	brain:	n/a
40	chr2:112812628-112812678	GM19239	blood:	n/a
41	chr2:112811924-112811974	RPTEC	kidney:	n/a
42	chr2:112813174-112813224	SK-N-SH	brain:	n/a
43	chr2:112840043-112840093	HAEpiC	amniotic membrane:	n/a
44	chr2:112812130-112812180	ProgFib	skin:	n/a
45	chr2:112704577-112704627	H1-hESC	embryonic stem cell:	embryo
46	chr2:112812775-112812825	HRCEpiC	kidney:	n/a
47	chr2:112811068-112811118	AG04450	lung:	fetal
48	chr2:112812957-112813007	HAEpiC	amniotic membrane:	n/a
49	chr2:112812775-112812825	AG09319	gingival:	n/a
50	chr2:112811068-112811118	PrEC	prostate:	n/a

(count:176 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:112690647..112692520-chr2:112812139..112814467,2	MCF-7	breast:
2	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
3	chr2:112655209..112656068-chr2:112805939..112806705,3	K562	blood:
4	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
5	chr2:112841714..112844039-chr2:112844165..112846368,2	MCF-7	breast:
6	chr2:112655190..112656611-chr2:112805884..112807102,14	MCF-7	breast:
7	chr2:112689156..112692166-chr2:112809195..112812890,3	MCF-7	breast:
8	chr2:112745449..112747257-chr2:112748458..112749966,2	K562	blood:
9	chr2:112654547..112656932-chr2:112789072..112792767,3	MCF-7	breast:
10	chr2:112784271..112785927-chr2:113030739..113033399,2	K562	blood:
11	chr2:112845353..112847041-chr2:112850152..112852401,3	K562	blood:
12	chr2:112644990..112645989-chr2:112805418..112807010,11	K562	blood:
13	chr2:112750127..112752944-chr2:112753596..112755144,2	K562	blood:
14	chr2:112733093..112735241-chr2:112737159..112739233,2	K562	blood:
15	chr2:112702753..112705481-chr2:112717991..112720713,2	MCF-7	breast:
16	chr2:112655301..112655903-chr2:112806007..112806643,3	MCF-7	breast:
17	chr2:112812782..112814740-chr2:112834381..112836933,4	MCF-7	breast:
18	chr2:112812746..112814811-chr2:112844433..112846774,2	MCF-7	breast:
19	chr2:112856304..112858308-chr2:112863818..112865779,2	K562	blood:
20	chr2:112733093..112735241-chr2:112737159..112739233,2	K562	blood:
21	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
22	chr2:112849302..112851484-chr2:112851521..112855530,4	K562	blood:
23	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
24	chr2:112845541..112848326-chr2:112850125..112851996,2	K562	blood:
25	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
26	chr2:112702193..112704851-chr2:112709463..112711214,2	MCF-7	breast:
27	chr2:112848431..112851658-chr2:112853970..112857290,3	MCF-7	breast:
28	chr2:112746108..112749062-chr2:112750194..112752575,2	MCF-7	breast:
29	chr2:112826096..112827842-chr2:112829800..112832394,2	MCF-7	breast:
30	chr2:112820549..112822093-chr2:112840179..112842837,2	K562	blood:
31	chr2:112746108..112749062-chr2:112750194..112752575,2	MCF-7	breast:
32	chr2:112703443..112705305-chr2:112708749..112711717,2	K562	blood:
33	chr2:112809505..112811729-chr2:113340407..113342286,2	MCF-7	breast:
34	chr2:112784747..112789219-chr2:112793429..112796621,4	K562	blood:
35	chr2:112658215..112658830-chr2:112806155..112807049,3	K562	blood:
36	chr2:112854980..112857744-chr2:112857881..112859739,2	K562	blood:
37	chr2:112702753..112705481-chr2:112717991..112720713,2	MCF-7	breast:
38	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
39	chr12:95396640..95398340-chr2:112811650..112814617,2	MCF-7	breast:
40	chr2:112812169..112814441-chr2:113238418..113240950,3	K562	blood:
41	chr2:112728900..112731202-chr2:112820823..112823636,2	K562	blood:
42	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
43	chr2:112776644..112779105-chr2:112781568..112783871,2	MCF-7	breast:
44	chr2:112801843..112803949-chr2:112807499..112810301,2	K562	blood:
45	chr2:112756888..112759523-chr2:112768707..112771527,2	K562	blood:
46	chr2:112733877..112736155-chr2:112743381..112745927,3	K562	blood:
47	chr2:112756888..112759523-chr2:112768707..112771527,2	K562	blood:
48	chr2:112833877..112836223-chr2:112843385..112845763,2	K562	blood:
49	chr2:112745449..112747257-chr2:112748458..112749966,2	K562	blood:
50	chr2:112722424..112724724-chr2:112728880..112730730,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM87B-3	chr2:112687752-112688041	NONHSAT073677
2	lnc-ANAPC1-2	chr2:112709721-112710248	NONHSAT073678
3	lnc-ZC3H8-3	chr2:112821123-112821282	NONHSAT073680
4	lnc-ZC3H8-3	chr2:112813389-112813800	NONHSAT073680

No data

Variant related genes	Relation type
MERTK	TF binding region
TMEM87B	TF binding region
ENSG00000232277	TF binding region
RN7SL297P	TF binding region
ENSG00000225496	TF binding region
MERTK	CpG island
TMEM87B	CpG island
ENSG00000232277	CpG island
RN7SL297P	CpG island
ENSG00000225496	CpG island
ENSG00000237753	chromatin interactions
ENSG00000184752	chromatin interactions
ENSG00000232277	chromatin interactions
ENSG00000153208	chromatin interactions
ENSG00000144161	chromatin interactions
ENSG00000125611	chromatin interactions
ENSG00000119280	chromatin interactions
ENSG00000240183	chromatin interactions
ENSG00000114999	chromatin interactions
ENSG00000153214	chromatin interactions
ENSG00000225496	chromatin interactions
ENSG00000125630	chromatin interactions
ENSG00000064195	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000236307	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000153107	chromatin interactions

Extended variants
information (count: 6774 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6774 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373778401	chr2:112679187-112679188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148218559	chr2:112679232-112679233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181420247	chr2:112679291-112679292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28637361	chr2:112679305-112679306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368372120	chr2:112679320-112679321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577817521	chr2:112679328-112679329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539866140	chr2:112679339-112679340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559686993	chr2:112679394-112679395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1996330	chr2:112679450-112679451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542344725	chr2:112679546-112679547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562440750	chr2:112679583-112679584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569525664	chr2:112679615-112679616	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531974249	chr2:112679720-112679721	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1996329	chr2:112679752-112679753	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186840443	chr2:112679828-112679829	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527960876	chr2:112679840-112679841	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547826397	chr2:112679844-112679845	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567146456	chr2:112679915-112679916	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369283231	chr2:112679940-112679941	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373190263	chr2:112679959-112679960	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536625755	chr2:112679973-112679974	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550294248	chr2:112679987-112679988	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191687575	chr2:112679990-112679991	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538052759	chr2:112680068-112680069	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141156645	chr2:112680089-112680090	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150285480	chr2:112680114-112680115	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533870951	chr2:112680167-112680168	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553630882	chr2:112680231-112680232	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115656175	chr2:112680238-112680239	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374972257	chr2:112680239-112680240	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542249578	chr2:112680304-112680305	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530851854	chr2:112680376-112680377	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138340120	chr2:112680389-112680390	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576009290	chr2:112680394-112680395	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545603916	chr2:112680397-112680398	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565300539	chr2:112680497-112680498	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527871645	chr2:112680508-112680509	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55972521	chr2:112680519-112680520	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183872873	chr2:112680585-112680586	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530155295	chr2:112680613-112680614	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144059828	chr2:112680643-112680644	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570136397	chr2:112680683-112680684	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532468378	chr2:112680688-112680689	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552627913	chr2:112680716-112680717	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188825795	chr2:112680729-112680730	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533737600	chr2:112680732-112680733	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1996328	chr2:112680741-112680742	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs552175098	chr2:112680744-112680745	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567183331	chr2:112680764-112680765	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191204179	chr2:112680811-112680812	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:4839 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112664600-112687600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:112664600-112702200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:112666400-112680200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:112666400-112681800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:112666400-112692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112666600-112680800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:112667000-112682000	Weak transcription	Aorta	Aorta
8	chr2:112667000-112684400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:112667800-112682000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:112668800-112680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:112670800-112684600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:112674600-112687400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:112674800-112687600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:112675000-112679400	Enhancers	Liver	Liver
15	chr2:112675800-112679800	Enhancers	Fetal Intestine Large	intestine
16	chr2:112676400-112702200	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:112676800-112680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:112676800-112680200	Weak transcription	Gastric	stomach
19	chr2:112677000-112679400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:112677000-112680200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:112677600-112682000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:112677800-112679400	Enhancers	Stomach Mucosa	stomach
23	chr2:112677800-112684400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:112677800-112684400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:112677800-112697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:112678000-112679400	Weak transcription	Spleen	Spleen
27	chr2:112678000-112679800	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:112678000-112680200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:112678000-112680400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:112678000-112680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:112678000-112680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:112678000-112680600	Weak transcription	Ovary	ovary
33	chr2:112678000-112681000	Weak transcription	Brain Anterior Caudate	brain
34	chr2:112678000-112681800	Weak transcription	Left Ventricle	heart
35	chr2:112678000-112684200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:112678000-112687600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:112678000-112688600	Weak transcription	A549	lung
38	chr2:112678000-112690600	Weak transcription	Small Intestine	intestine
39	chr2:112678000-112691200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:112678000-112705600	Weak transcription	Esophagus	oesophagus
41	chr2:112678200-112679400	Enhancers	HepG2	liver
42	chr2:112678200-112680200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:112678200-112680200	Weak transcription	Fetal Lung	lung
44	chr2:112678200-112680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:112678200-112680600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:112678200-112680600	Weak transcription	Fetal Stomach	stomach
47	chr2:112678200-112684200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:112678200-112686600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:112678200-112687600	Weak transcription	Adipose Nuclei	Adipose
50	chr2:112678600-112680200	Weak transcription	Lung	lung

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