Variant report

Variant	esv3426478
Chromosome Location	chr1:94373589-94376737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:94374945-94375386	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:94375931-94376232	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:94374926-94375295	K562	blood:	n/a	n/a
4	ATF2	chr1:94375039-94375433	GM12878	blood:	n/a	n/a
5	ATF2	chr1:94374831-94375599	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:94374827-94375256	K562	blood:	n/a	chr1:94375165-94375174 chr1:94375190-94375199
7	ATF3	chr1:94374938-94375358	K562	blood:	n/a	chr1:94375165-94375174 chr1:94375190-94375199
8	BACH1	chr1:94374230-94375589	K562	blood:	n/a	n/a
9	BACH1	chr1:94374217-94375497	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr1:94374857-94375401	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912
11	BCLAF1	chr1:94375020-94375426	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94375068-94375081 chr1:94375129-94375142
12	BCLAF1	chr1:94374802-94375369	K562	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374836-94374849 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912 chr1:94374842-94374855
13	BCLAF1	chr1:94374826-94375435	K562	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374836-94374849 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912 chr1:94374842-94374855
14	BCLAF1	chr1:94374936-94375451	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374954-94374967 chr1:94375129-94375142
15	BHLHE40	chr1:94374870-94375633	K562	blood:	n/a	chr1:94375066-94375082 chr1:94375191-94375207
16	BHLHE40	chr1:94375009-94375476	GM12878	blood:	n/a	chr1:94375066-94375082 chr1:94375191-94375207
17	BRCA1	chr1:94374959-94375041	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:94375004-94375394	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:94374903-94375344	K562	blood:	n/a	n/a
20	CBX3	chr1:94374793-94375777	K562	blood:	n/a	n/a
21	CCNT2	chr1:94374329-94375458	K562	blood:	n/a	chr1:94375075-94375084
22	CEBPB	chr1:94374994-94375418	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr1:94375030-94375154	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:94374780-94375254	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr1:94374914-94375185	K562	blood:	n/a	n/a
26	CEBPB	chr1:94374935-94375379	Hela-S3	cervix:	n/a	n/a
27	CHD1	chr1:94373019-94376024	IMR90	lung:	n/a	chr1:94375076-94375086
28	CHD1	chr1:94374804-94375272	H1-hESC	embryonic stem cell:	n/a	chr1:94375076-94375086
29	CHD1	chr1:94374837-94375565	GM12878	blood:	n/a	chr1:94375076-94375086
30	CHD1	chr1:94374187-94374327	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:94374945-94375489	H1-hESC	embryonic stem cell:	n/a	chr1:94375076-94375086
32	CHD2	chr1:94374236-94375394	Hela-S3	cervix:	n/a	chr1:94375076-94375086
33	CHD2	chr1:94374494-94374588	K562	blood:	n/a	n/a
34	CHD2	chr1:94375146-94375346	HepG2	liver:	n/a	n/a
35	CHD2	chr1:94374987-94375733	GM12878	blood:	n/a	chr1:94375076-94375086
36	CHD2	chr1:94374875-94375421	K562	blood:	n/a	chr1:94375076-94375086
37	CREB1	chr1:94374955-94375582	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr1:94374835-94375572	GM12878	blood:	n/a	n/a
39	CREB1	chr1:94374750-94375487	A549	lung:	n/a	n/a
40	CREB1	chr1:94374839-94375582	HepG2	liver:	n/a	n/a
41	CREB1	chr1:94374860-94375649	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr1:94374847-94375535	K562	blood:	n/a	n/a
43	CTBP2	chr1:94374345-94375417	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:94374988-94375460	A549	lung:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
45	CTCF	chr1:94375260-94375410	HRE	kidney:	n/a	n/a
46	CTCF	chr1:94375200-94375350	AG04449	skin:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
47	CTCF	chr1:94374940-94375635	K562	blood:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
48	CTCF	chr1:94375084-94375398	LNCaP	prostate:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
49	CTCF	chr1:94375200-94375350	AG09309	skin:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
50	CTCF	chr1:94375120-94375270	GM12868	blood:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94375159-94375209	BE2_C	brain:	n/a
2	chr1:94375159-94375209	BE2_C	brain:	n/a
3	chr1:94375392-94375442	HCM	heart:	n/a
4	chr1:94375159-94375209	AoSMC	blood vessel:	n/a
5	chr1:94375246-94375296	A549	lung:	n/a
6	chr1:94374268-94374318	MCF-7	breast:	n/a
7	chr1:94375328-94375378	MCF10A-Er-Src	breast:	n/a
8	chr1:94375064-94375114	HRCEpiC	kidney:	n/a
9	chr1:94374612-94374662	BJ	skin:	n/a
10	chr1:94375246-94375296	AG09319	gingival:	n/a
11	chr1:94375246-94375296	MCF-7	breast:	n/a
12	chr1:94374268-94374318	HEK293	kidney:	embryo
13	chr1:94375159-94375209	MCF10A-Er-Src	breast:	n/a
14	chr1:94374966-94375016	Hepatocyte	liver:	n/a
15	chr1:94375598-94375648	PFSK-1	brain:	n/a
16	chr1:94375598-94375648	HCPEpiC	choroid plexus:	n/a
17	chr1:94375159-94375209	AG10803	skin:	n/a
18	chr1:94375328-94375378	IMR90	lung:	fetal
19	chr1:94375246-94375296	SK-N-SH_RA	brain:	n/a
20	chr1:94375064-94375114	HMEC	breast:	n/a
21	chr1:94374612-94374662	HEK293	kidney:	embryo
22	chr1:94375598-94375648	HEEpiC	esophagus:	n/a
23	chr1:94374268-94374318	LNCaP	prostate:	n/a
24	chr1:94374370-94374420	SK-N-SH	brain:	n/a
25	chr1:94375159-94375209	HCF	heart:	n/a
26	chr1:94375064-94375114	HIPEpiC	eye:	n/a
27	chr1:94374966-94375016	K562	blood:	n/a
28	chr1:94375517-94375567	MCF-7	breast:	n/a
29	chr1:94375328-94375378	HUVEC	blood vessel:	n/a
30	chr1:94374612-94374662	A549	lung:	n/a
31	chr1:94375598-94375648	HCF	heart:	n/a
32	chr1:94375517-94375567	ProgFib	skin:	n/a
33	chr1:94375027-94375077	HEK293	kidney:	embryo
34	chr1:94375246-94375296	NHDF-neo	bronchial:	n/a
35	chr1:94374268-94374318	ovcar-3	ovarian:	n/a
36	chr1:94375159-94375209	Caco-2	colon:	n/a
37	chr1:94375392-94375442	HRCEpiC	kidney:	n/a
38	chr1:94375159-94375209	Hela-S3	cervix:	n/a
39	chr1:94375246-94375296	HEEpiC	esophagus:	n/a
40	chr1:94375598-94375648	GM12891	blood:	n/a
41	chr1:94375517-94375567	A549	lung:	n/a
42	chr1:94374370-94374420	AoSMC	blood vessel:	n/a
43	chr1:94375517-94375567	HRE	kidney:	n/a
44	chr1:94374612-94374662	PrEC	prostate:	n/a
45	chr1:94374370-94374420	ProgFib	skin:	n/a
46	chr1:94374268-94374318	GM12892	blood:	n/a
47	chr1:94375517-94375567	SK-N-SH	brain:	n/a
48	chr1:94375598-94375648	SAEC	small airway:	n/a
49	chr1:94375517-94375567	Caco-2	colon:	n/a
50	chr1:94375064-94375114	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
2	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
3	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
4	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
5	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
6	chr1:94374517..94375294-chr5:612302..612832,2	Hela-S3	cervix:
7	chr1:94350854..94353775-chr1:94372233..94374131,2	K562	blood:
8	chr1:94310017..94313015-chr1:94371318..94373997,3	K562	blood:
9	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
10	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
11	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
12	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
13	chr1:94375220..94377246-chr1:94405325..94407050,2	MCF-7	breast:
14	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
15	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-2	chr1:94374221-94374480	NONHSAT004556

Variant related genes	Relation type
GCLM	TF binding region
GCLM	CpG island
ENSG00000067334	chromatin interactions
ENSG00000112877	chromatin interactions
ENSG00000117505	chromatin interactions
ENSG00000223745	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000249650	chromatin interactions
ENSG00000198691	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000211575	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532494351	chr1:94373665-94373666	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs529368172	chr1:94373713-94373714	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs547715224	chr1:94373760-94373761	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs371516926	chr1:94373873-94373874	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs549232835	chr1:94373892-94373893	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs17880726	chr1:94373945-94373946	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs201826617	chr1:94373957-94373958	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs529952647	chr1:94373979-94373980	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs3789453	chr1:94374026-94374027	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs551647187	chr1:94374033-94374034	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs183871736	chr1:94374124-94374125	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs368967352	chr1:94374125-94374126	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs370177814	chr1:94374127-94374128	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs571555060	chr1:94374138-94374139	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs201126342	chr1:94374139-94374140	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs536770806	chr1:94374164-94374165	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs142330572	chr1:94374197-94374198	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs376087411	chr1:94374215-94374216	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs534274457	chr1:94374231-94374232	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs113611119	chr1:94374294-94374295	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs572388986	chr1:94374306-94374307	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs538344368	chr1:94374338-94374339	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs34743713	chr1:94374350-94374351	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs139488679	chr1:94374449-94374450	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs554885979	chr1:94374481-94374482	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs2273407	chr1:94374544-94374545	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs2273406	chr1:94374576-94374577	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543559869	chr1:94374615-94374616	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs565331853	chr1:94374625-94374626	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs532594815	chr1:94374671-94374672	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs541424485	chr1:94374699-94374700	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs111406294	chr1:94374703-94374704	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs12401915	chr1:94374735-94374736	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs743119	chr1:94374742-94374743	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs17883607	chr1:94374756-94374757	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs17886856	chr1:94374757-94374758	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs17878333	chr1:94374758-94374759	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs529996540	chr1:94374810-94374811	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs548438884	chr1:94374924-94374925	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs17878517	chr1:94374928-94374929	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs530693140	chr1:94374957-94374958	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs78940640	chr1:94375010-94375011	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs551989528	chr1:94375052-94375053	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs570525161	chr1:94375090-94375091	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs534356868	chr1:94375100-94375101	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs552529902	chr1:94375121-94375122	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs567689004	chr1:94375139-94375140	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs144212453	chr1:94375165-94375166	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs555203268	chr1:94375167-94375168	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs736762	chr1:94375172-94375173	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
6	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
7	chr1:94345600-94373600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
10	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
11	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
12	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:94362600-94373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
17	chr1:94362800-94374000	Weak transcription	Ovary	ovary
18	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:94367200-94373800	Weak transcription	Placenta	Placenta
20	chr1:94369200-94373800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:94369200-94373800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:94369400-94373800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:94369600-94373800	Weak transcription	Colonic Mucosa	Colon
24	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:94370200-94374000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:94370200-94374000	Weak transcription	Primary T cells from cord blood	blood
27	chr1:94370200-94374000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:94370600-94373600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:94370600-94373800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:94370800-94373600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:94370800-94374000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:94370800-94374000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:94370800-94375200	Active TSS	HMEC	breast
34	chr1:94371000-94373600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:94371200-94374000	Weak transcription	Small Intestine	intestine
36	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:94371400-94373800	Flanking Active TSS	HUVEC	blood vessel
38	chr1:94371600-94374000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:94371600-94374400	Flanking Active TSS	Liver	Liver
40	chr1:94372000-94374000	Weak transcription	Fetal Intestine Large	intestine
41	chr1:94372200-94373800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:94372400-94374400	Flanking Active TSS	Dnd41	blood
43	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:94372400-94375800	Active TSS	NHLF	lung
45	chr1:94372600-94373600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:94372600-94373600	Transcr. at gene 5' and 3'	K562	blood
47	chr1:94372600-94373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:94372600-94374000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:94372600-94374000	Enhancers	Colon Smooth Muscle	Colon
50	chr1:94372600-94374000	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links