Variant report

Variant	nsv602106
Chromosome Location	chr6:32155448-32161430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:719)
CpG islands
(count:2748)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:32158030-32158451	K562	blood:	n/a	chr6:32158352-32158368
2	ARID3A	chr6:32158030-32158555	HepG2	liver:	n/a	chr6:32158352-32158368
3	ATF2	chr6:32157932-32158257	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:32157840-32158413	GM12878	blood:	n/a	n/a
5	ATF2	chr6:32160396-32161023	GM12878	blood:	n/a	n/a
6	ATF2	chr6:32157937-32158328	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr6:32158024-32158211	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr6:32157987-32158211	GM12878	blood:	n/a	n/a
9	BCL11A	chr6:32158009-32158532	GM12878	blood:	n/a	chr6:32158172-32158181
10	BCL11A	chr6:32157924-32158312	GM12878	blood:	n/a	chr6:32158172-32158181
11	BCL3	chr6:32157949-32158369	A549	lung:	n/a	chr6:32158172-32158181
12	BCL3	chr6:32157840-32158420	GM12878	blood:	n/a	chr6:32158172-32158181
13	BCLAF1	chr6:32157865-32158460	GM12878	blood:	n/a	chr6:32158172-32158181
14	BCLAF1	chr6:32160398-32160973	GM12878	blood:	n/a	chr6:32160706-32160715
15	BCLAF1	chr6:32157858-32158485	GM12878	blood:	n/a	chr6:32158172-32158181
16	BHLHE40	chr6:32156806-32157002	K562	blood:	n/a	n/a
17	BHLHE40	chr6:32157942-32158506	GM12878	blood:	n/a	n/a
18	BHLHE40	chr6:32160501-32160785	K562	blood:	n/a	n/a
19	BHLHE40	chr6:32159750-32159880	K562	blood:	n/a	n/a
20	BHLHE40	chr6:32158923-32159181	K562	blood:	n/a	n/a
21	BHLHE40	chr6:32158039-32158315	K562	blood:	n/a	n/a
22	BRCA1	chr6:32158048-32158270	GM12878	blood:	n/a	n/a
23	BRCA1	chr6:32159421-32159526	GM12878	blood:	n/a	n/a
24	BRCA1	chr6:32159077-32159121	GM12878	blood:	n/a	n/a
25	CBX3	chr6:32160334-32160934	K562	blood:	n/a	n/a
26	CBX3	chr6:32157838-32158426	K562	blood:	n/a	n/a
27	CCNT2	chr6:32160481-32160901	K562	blood:	n/a	chr6:32160734-32160743
28	CCNT2	chr6:32157569-32157573	K562	blood:	n/a	n/a
29	CCNT2	chr6:32158002-32158346	K562	blood:	n/a	n/a
30	CEBPB	chr6:32156282-32156657	K562	blood:	n/a	chr6:32156470-32156481
31	CEBPB	chr6:32156309-32156599	Hela-S3	cervix:	n/a	chr6:32156470-32156481
32	CEBPB	chr6:32156312-32156662	IMR90	lung:	n/a	chr6:32156470-32156481
33	CEBPB	chr6:32156156-32156690	K562	blood:	n/a	chr6:32156470-32156481
34	CEBPB	chr6:32156333-32156630	HepG2	liver:	n/a	chr6:32156470-32156481
35	CEBPB	chr6:32156408-32156608	A549	lung:	n/a	chr6:32156470-32156481
36	CEBPB	chr6:32157873-32158555	GM12878	blood:	n/a	n/a
37	CEBPD	chr6:32157511-32158496	HepG2	liver:	n/a	n/a
38	CEBPD	chr6:32157868-32158083	HepG2	liver:	n/a	n/a
39	CEBPD	chr6:32157861-32158326	K562	blood:	n/a	n/a
40	CHD1	chr6:32159912-32160675	GM12878	blood:	n/a	n/a
41	CHD1	chr6:32158111-32158207	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr6:32158054-32158518	GM12878	blood:	n/a	n/a
43	CHD2	chr6:32156807-32157141	GM12878	blood:	n/a	n/a
44	CHD2	chr6:32159607-32160906	GM12878	blood:	n/a	chr6:32160734-32160744
45	CHD2	chr6:32157950-32158314	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr6:32157841-32158332	K562	blood:	n/a	n/a
47	CHD2	chr6:32160080-32160086	HepG2	liver:	n/a	n/a
48	CHD2	chr6:32160579-32160875	K562	blood:	n/a	chr6:32160734-32160744
49	CHD2	chr6:32157804-32158295	HepG2	liver:	n/a	chr6:32157820-32157830
50	CHD2	chr6:32156772-32157028	K562	blood:	n/a	n/a

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32158953-32159003	SKMC	muscle:	n/a
2	chr6:32155758-32155808	PANC-1	pancreas:	n/a
3	chr6:32159604-32159654	SK-N-MC	brain:	n/a
4	chr6:32158953-32159003	SKMC	muscle:	n/a
5	chr6:32155758-32155808	PANC-1	pancreas:	n/a
6	chr6:32159604-32159654	SK-N-MC	brain:	n/a
7	chr6:32157596-32157646	HRPEpiC	eye:	n/a
8	chr6:32159527-32159577	RPTEC	kidney:	n/a
9	chr6:32158409-32158459	NB4	blood:	n/a
10	chr6:32158513-32158563	HIPEpiC	eye:	n/a
11	chr6:32158268-32158318	HCF	heart:	n/a
12	chr6:32156092-32156142	PFSK-1	brain:	n/a
13	chr6:32158268-32158318	H1-hESC	embryonic stem cell:	embryo
14	chr6:32155557-32155607	AoSMC	blood vessel:	n/a
15	chr6:32160605-32160655	HNPCEpiC	eye:	n/a
16	chr6:32156092-32156142	NHBE	bronchial:	n/a
17	chr6:32158233-32158283	HEEpiC	esophagus:	n/a
18	chr6:32158513-32158563	A549	lung:	n/a
19	chr6:32158409-32158459	GM12892	blood:	n/a
20	chr6:32158284-32158334	HCM	heart:	n/a
21	chr6:32157150-32157200	HCF	heart:	n/a
22	chr6:32156092-32156142	HRCEpiC	kidney:	n/a
23	chr6:32157150-32157200	HEEpiC	esophagus:	n/a
24	chr6:32157596-32157646	HAEpiC	amniotic membrane:	n/a
25	chr6:32158439-32158489	NB4	blood:	n/a
26	chr6:32159527-32159577	HMEC	breast:	n/a
27	chr6:32160605-32160655	NHDF-neo	bronchial:	n/a
28	chr6:32158196-32158246	AG04449	skin:	fetal
29	chr6:32160798-32160848	BE2_C	brain:	n/a
30	chr6:32158409-32158459	K562	blood:	n/a
31	chr6:32160998-32161048	Jurkat	blood:	n/a
32	chr6:32157230-32157280	Caco-2	colon:	n/a
33	chr6:32160455-32160505	HCPEpiC	choroid plexus:	n/a
34	chr6:32155557-32155607	BE2_C	brain:	n/a
35	chr6:32160605-32160655	HIPEpiC	eye:	n/a
36	chr6:32159607-32159657	SKMC	muscle:	n/a
37	chr6:32156071-32156121	HRE	kidney:	n/a
38	chr6:32157581-32157631	SK-N-MC	brain:	n/a
39	chr6:32158927-32158977	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:32158196-32158246	GM19239	blood:	n/a
41	chr6:32159527-32159577	BE2_C	brain:	n/a
42	chr6:32160074-32160124	NHDF-neo	bronchial:	n/a
43	chr6:32155783-32155833	SK-N-MC	brain:	n/a
44	chr6:32158268-32158318	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:32157196-32157246	SK-N-SH	brain:	n/a
46	chr6:32155551-32155601	BJ	skin:	n/a
47	chr6:32159036-32159086	HAEpiC	amniotic membrane:	n/a
48	chr6:32157485-32157535	GM12892	blood:	n/a
49	chr6:32155816-32155866	SK-N-SH	brain:	n/a
50	chr6:32158439-32158489	HAEpiC	amniotic membrane:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32095298..32098184-chr6:32156498..32160888,5	K562	blood:
2	chr6:32130340..32133008-chr6:32156671..32159025,2	K562	blood:
3	chr6:31587809..31589938-chr6:32155791..32158478,2	K562	blood:
4	chr6:32094074..32100900-chr6:32161398..32167888,13	K562	blood:
5	chr6:32093849..32103011-chr6:32158588..32167888,20	K562	blood:
6	chr6:32161088..32165326-chr6:32169271..32173030,5	MCF-7	breast:
7	chr6:32161339..32163258-chr6:33237898..33240619,2	MCF-7	breast:
8	chr6:31780396..31783150-chr6:32157710..32160077,2	K562	blood:
9	chr6:32134251..32137213-chr6:32156487..32158678,3	MCF-7	breast:
10	chr6:32081236..32084313-chr6:32157401..32160068,3	K562	blood:
11	chr6:32084304..32090142-chr6:32159452..32164516,8	MCF-7	breast:
12	chr6:32119953..32121978-chr6:32160445..32163462,3	MCF-7	breast:
13	chr6:32095195..32097692-chr6:32157646..32160241,2	MCF-7	breast:
14	chr6:26020084..26022289-chr6:32156982..32159978,2	MCF-7	breast:
15	chr6:32092056..32098268-chr6:32161262..32166055,9	MCF-7	breast:
16	chr6:32156687..32160945-chr6:32937394..32941175,4	MCF-7	breast:
17	chr6:32160494..32165534-chr6:32936226..32940511,8	MCF-7	breast:
18	chr6:32156798..32159265-chr6:32938692..32941537,2	K562	blood:
19	chr6:32096172..32100215-chr6:32154777..32158553,5	K562	blood:
20	chr6:32094643..32097861-chr6:32156762..32160967,6	MCF-7	breast:
21	chr6:32086948..32090712-chr6:32159204..32162196,3	MCF-7	breast:
22	chr6:32160694..32163136-chr6:32935096..32936645,2	K562	blood:
23	chr6:32094644..32097933-chr6:32160950..32166107,5	MCF-7	breast:
24	chr6:32120850..32123436-chr6:32158287..32160470,4	MCF-7	breast:
25	chr6:32126148..32128480-chr6:32158401..32160211,2	MCF-7	breast:
26	chr6:31802423..31804189-chr6:32158353..32160407,3	K562	blood:
27	chr6:32120233..32126271-chr6:32158822..32166984,18	K562	blood:
28	chr6:32158410..32160311-chr6:32168794..32171639,2	K562	blood:
29	chr6:32142678..32147635-chr6:32160639..32166698,10	MCF-7	breast:

No data

Variant related genes	Relation type
GPSM3	TF binding region
AGER	TF binding region
PBX2	TF binding region
ENSG00000273333	TF binding region
GPSM3	CpG island
AGER	CpG island
PBX2	CpG island
ENSG00000273333	CpG island
ENSG00000204310	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000204308	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000213676	chromatin interactions
ENSG00000241404	chromatin interactions
ENSG00000204315	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000204301	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000168477	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201011976	chr6:32155487-32155488	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs202223627	chr6:32155509-32155510	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181638004	chr6:32155517-32155518	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs375879637	chr6:32155548-32155549	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs575909843	chr6:32155562-32155563	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs204993	chr6:32155581-32155582	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
7	rs373203396	chr6:32155609-32155610	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs118166466	chr6:32155639-32155640	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs551947207	chr6:32155660-32155661	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs376011965	chr6:32155699-32155700	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201410856	chr6:32155831-32155832	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs137975293	chr6:32155866-32155867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs532139709	chr6:32155916-32155917	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs149461273	chr6:32155917-32155918	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs2071292	chr6:32155948-32155949	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs202079651	chr6:32155984-32155985	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs371451676	chr6:32155995-32155996	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs375737946	chr6:32155998-32155999	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs369915888	chr6:32156004-32156005	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs527632670	chr6:32156005-32156006	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs563214940	chr6:32156067-32156068	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs143856649	chr6:32156071-32156072	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs377325172	chr6:32156073-32156074	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs373058342	chr6:32156088-32156089	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs376023442	chr6:32156093-32156094	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs372629654	chr6:32156109-32156110	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs148690843	chr6:32156125-32156126	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530634176	chr6:32156126-32156127	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs200483918	chr6:32156147-32156148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs552123967	chr6:32156151-32156152	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs141804773	chr6:32156175-32156176	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs570605836	chr6:32156191-32156192	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs534855023	chr6:32156202-32156203	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs547064168	chr6:32156248-32156249	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs568374645	chr6:32156280-32156281	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs201332604	chr6:32156294-32156295	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs535804880	chr6:32156364-32156365	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs557706026	chr6:32156394-32156395	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs575971693	chr6:32156423-32156424	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs367834047	chr6:32156479-32156480	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs199859210	chr6:32156482-32156483	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs199649514	chr6:32156483-32156484	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs540119886	chr6:32156485-32156486	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs2022059	chr6:32156489-32156490	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs201560573	chr6:32156527-32156528	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs373393947	chr6:32156566-32156567	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs573381276	chr6:32156620-32156621	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs540807307	chr6:32156628-32156629	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs147837813	chr6:32156668-32156669	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs377462276	chr6:32156669-32156670	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32146800-32156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:32147200-32156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:32147600-32156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:32147600-32156200	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr6:32149800-32156600	Weak transcription	Stomach Mucosa	stomach
6	chr6:32150200-32156200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:32151000-32156400	Weak transcription	Ovary	ovary
8	chr6:32151400-32155800	Weak transcription	HSMM	muscle
9	chr6:32152400-32156200	Weak transcription	Hela-S3	cervix
10	chr6:32152400-32160600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:32153400-32155800	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:32153400-32156000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:32153600-32155600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:32153600-32155800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr6:32153600-32155800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr6:32153600-32156000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:32153600-32156000	Genic enhancers	Fetal Stomach	stomach
18	chr6:32153600-32156000	Weak transcription	NH-A	brain
19	chr6:32153600-32156200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:32153600-32156200	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:32153600-32156200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:32153800-32155600	Genic enhancers	Primary B cells from cord blood	blood
23	chr6:32153800-32155600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:32153800-32155600	Genic enhancers	Rectal Smooth Muscle	rectum
25	chr6:32153800-32155600	Strong transcription	HepG2	liver
26	chr6:32153800-32155800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:32153800-32155800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:32153800-32155800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:32153800-32155800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:32153800-32155800	Strong transcription	Brain Cingulate Gyrus	brain
31	chr6:32153800-32155800	Genic enhancers	Colon Smooth Muscle	Colon
32	chr6:32153800-32155800	Genic enhancers	Fetal Intestine Small	intestine
33	chr6:32153800-32155800	Genic enhancers	Fetal Kidney	kidney
34	chr6:32153800-32155800	Enhancers	Right Atrium	heart
35	chr6:32153800-32156000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:32153800-32156000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:32153800-32156000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:32153800-32156000	Genic enhancers	Fetal Intestine Large	intestine
39	chr6:32153800-32156000	Genic enhancers	Fetal Lung	lung
40	chr6:32153800-32156000	Strong transcription	HMEC	breast
41	chr6:32153800-32156200	Genic enhancers	Placenta	Placenta
42	chr6:32153800-32156200	Genic enhancers	Fetal Thymus	thymus
43	chr6:32153800-32156400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:32153800-32156400	Genic enhancers	Spleen	Spleen
45	chr6:32154000-32155800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:32154000-32155800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:32154000-32155800	Strong transcription	NHEK	skin
48	chr6:32154000-32155800	Strong transcription	Osteobl	bone
49	chr6:32154000-32156000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr6:32154000-32156000	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links