Variant report

Variant	nsv897913
Chromosome Location	chr11:74171997-74216705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1166)
CpG islands
(count:1586)
Chromatin interactive
region (count:73)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1166 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74204983-74205036	K562	blood:	n/a	n/a
2	ARID3A	chr11:74204029-74204748	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:74215901-74216250	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:74204099-74204316	K562	blood:	n/a	n/a
5	ATF1	chr11:74204083-74204482	K562	blood:	n/a	n/a
6	ATF1	chr11:74208008-74208186	K562	blood:	n/a	n/a
7	ATF1	chr11:74197010-74197210	K562	blood:	n/a	n/a
8	ATF2	chr11:74203903-74204454	GM12878	blood:	n/a	n/a
9	ATF3	chr11:74190459-74190762	K562	blood:	n/a	n/a
10	ATF3	chr11:74204088-74204706	K562	blood:	n/a	chr11:74204218-74204227
11	ATF3	chr11:74216010-74216336	K562	blood:	n/a	n/a
12	ATF3	chr11:74173074-74173470	K562	blood:	n/a	n/a
13	ATF3	chr11:74204133-74204626	A549	lung:	n/a	chr11:74204218-74204227
14	ATF3	chr11:74204217-74204573	A549	lung:	n/a	chr11:74204218-74204227
15	BACH1	chr11:74173264-74173522	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:74178080-74178552	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:74204020-74205247	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:74171502-74172133	K562	blood:	n/a	n/a
19	BCL3	chr11:74203802-74204331	A549	lung:	n/a	chr11:74204218-74204231
20	BCL3	chr11:74203866-74204879	A549	lung:	n/a	chr11:74204218-74204231
21	BCLAF1	chr11:74204065-74204612	GM12878	blood:	n/a	chr11:74204218-74204231
22	BHLHE40	chr11:74216577-74216764	K562	blood:	n/a	n/a
23	BHLHE40	chr11:74190377-74190628	K562	blood:	n/a	n/a
24	BHLHE40	chr11:74172864-74173438	K562	blood:	n/a	chr11:74173301-74173317
25	BHLHE40	chr11:74204074-74204921	K562	blood:	n/a	n/a
26	BHLHE40	chr11:74171848-74172066	K562	blood:	n/a	n/a
27	BHLHE40	chr11:74199117-74199132	K562	blood:	n/a	n/a
28	BHLHE40	chr11:74204099-74205115	GM12878	blood:	n/a	n/a
29	BRCA1	chr11:74204012-74204159	HepG2	liver:	n/a	n/a
30	BRCA1	chr11:74204639-74204901	HepG2	liver:	n/a	n/a
31	BRCA1	chr11:74204032-74204904	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr11:74215836-74216400	K562	blood:	n/a	n/a
33	CBX3	chr11:74203927-74204814	K562	blood:	n/a	n/a
34	CBX3	chr11:74172967-74173440	K562	blood:	n/a	n/a
35	CBX3	chr11:74213705-74214089	K562	blood:	n/a	n/a
36	CCNT2	chr11:74204008-74204925	K562	blood:	n/a	chr11:74204218-74204227
37	CCNT2	chr11:74171849-74172200	K562	blood:	n/a	n/a
38	CEBPB	chr11:74203817-74204233	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr11:74173073-74173436	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
40	CEBPB	chr11:74190419-74190773	IMR90	lung:	n/a	chr11:74190592-74190603
41	CEBPB	chr11:74173073-74173426	A549	lung:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
42	CEBPB	chr11:74173047-74173441	H1-hESC	embryonic stem cell:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
43	CEBPB	chr11:74173015-74173453	A549	lung:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
44	CEBPB	chr11:74172846-74173454	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
45	CEBPB	chr11:74204172-74204919	HepG2	liver:	n/a	n/a
46	CEBPB	chr11:74172883-74173487	K562	blood:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
47	CEBPB	chr11:74173077-74173446	HepG2	liver:	n/a	chr11:74173241-74173252 chr11:74173242-74173253
48	CEBPB	chr11:74214029-74214245	A549	lung:	n/a	chr11:74214200-74214211 chr11:74214202-74214211
49	CEBPB	chr11:74190410-74190778	HepG2	liver:	n/a	chr11:74190592-74190603
50	CEBPB	chr11:74216477-74216775	K562	blood:	n/a	n/a

(count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74178800-74178850	AG10803	skin:	n/a
2	chr11:74207624-74207674	MCF-7	breast:	n/a
3	chr11:74178114-74178164	NT2-D1	testis:	n/a
4	chr11:74200334-74200384	HepG2	liver:	n/a
5	chr11:74178684-74178734	PANC-1	pancreas:	n/a
6	chr11:74204900-74204950	A549	lung:	n/a
7	chr11:74204613-74204663	NHBE	bronchial:	n/a
8	chr11:74178114-74178164	HCF	heart:	n/a
9	chr11:74178268-74178318	ECC-1	luminal epithelium:	n/a
10	chr11:74204613-74204663	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:74204975-74205025	HCPEpiC	choroid plexus:	n/a
12	chr11:74172851-74172901	PANC-1	pancreas:	n/a
13	chr11:74204163-74204213	K562	blood:	n/a
14	chr11:74204987-74205037	ECC-1	luminal epithelium:	n/a
15	chr11:74179054-74179104	AG04449	skin:	fetal
16	chr11:74204917-74204967	A549	lung:	n/a
17	chr11:74204163-74204213	GM06990	blood:	n/a
18	chr11:74178795-74178845	SKMC	muscle:	n/a
19	chr11:74178749-74178799	HRCEpiC	kidney:	n/a
20	chr11:74204105-74204155	PFSK-1	brain:	n/a
21	chr11:74204835-74204885	Hela-S3	cervix:	n/a
22	chr11:74204338-74204388	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:74178883-74178933	Hela-S3	cervix:	n/a
24	chr11:74204105-74204155	SAEC	small airway:	n/a
25	chr11:74178761-74178811	GM19239	blood:	n/a
26	chr11:74204163-74204213	NH-A	brain:	n/a
27	chr11:74178800-74178850	SK-N-SH	brain:	n/a
28	chr11:74204835-74204885	NB4	blood:	n/a
29	chr11:74204840-74204890	HNPCEpiC	eye:	n/a
30	chr11:74204900-74204950	PANC-1	pancreas:	n/a
31	chr11:74204835-74204885	HEEpiC	esophagus:	n/a
32	chr11:74204900-74204950	SKMC	muscle:	n/a
33	chr11:74181785-74181835	SK-N-MC	brain:	n/a
34	chr11:74204613-74204663	MCF10A-Er-Src	breast:	n/a
35	chr11:74178795-74178845	SK-N-SH	brain:	n/a
36	chr11:74204835-74204885	MCF-7	breast:	n/a
37	chr11:74178795-74178845	HL-60	blood:	n/a
38	chr11:74207624-74207674	HepG2	liver:	n/a
39	chr11:74204163-74204213	PFSK-1	brain:	n/a
40	chr11:74178800-74178850	SK-N-SH_RA	brain:	n/a
41	chr11:74200334-74200384	HRPEpiC	eye:	n/a
42	chr11:74204987-74205037	ProgFib	skin:	n/a
43	chr11:74178462-74178512	AG09319	gingival:	n/a
44	chr11:74178800-74178850	PFSK-1	brain:	n/a
45	chr11:74204163-74204213	HUVEC	blood vessel:	n/a
46	chr11:74178684-74178734	MCF10A-Er-Src	breast:	n/a
47	chr11:74178800-74178850	SKMC	muscle:	n/a
48	chr11:74178462-74178512	HepG2	liver:	n/a
49	chr11:74207624-74207674	SKMC	muscle:	n/a
50	chr11:74200334-74200384	SAEC	small airway:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:74203709..74204682-chr11:75526078..75526626,2	Hela-S3	cervix:
2	chr11:74181865..74184456-chr11:74190854..74193163,2	K562	blood:
3	chr11:74175333..74177141-chr11:74189553..74191217,2	K562	blood:
4	chr11:74204361..74206263-chr11:74214624..74217236,3	MCF-7	breast:
5	chr11:74166040..74168250-chr11:74170163..74172017,2	K562	blood:
6	chr11:74204304..74205190-chr11:78285459..78286026,2	Hela-S3	cervix:
7	chr11:74175366..74177621-chr11:74184353..74186919,2	MCF-7	breast:
8	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
9	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:
10	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
11	chr11:74204211..74205020-chr16:74734088..74734697,2	Hela-S3	cervix:
12	chr1:17222169..17223164-chr11:74203977..74204800,2	HCT-116	colon:
13	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
14	chr11:74182604..74185064-chr11:74185664..74188073,3	K562	blood:
15	chr11:74202594..74206347-chr11:74211663..74216525,7	K562	blood:
16	chr11:74169160..74171524-chr11:74183873..74185733,2	MCF-7	breast:
17	chr11:74181865..74184456-chr11:74190854..74193163,2	K562	blood:
18	chr11:74200976..74203933-chr11:74257256..74259577,2	MCF-7	breast:
19	chr1:185286539..185287111-chr11:74204400..74204998,2	Hela-S3	cervix:
20	chr11:74202819..74206685-chr11:74211078..74218962,13	MCF-7	breast:
21	chr11:74184454..74187317-chr11:74287240..74289348,2	K562	blood:
22	chr11:74203150..74205819-chr11:74301632..74306352,4	MCF-7	breast:
23	chr11:74186657..74188860-chr11:74197942..74199479,2	MCF-7	breast:
24	chr11:74204273..74205120-chr12:108955828..108956400,2	Hela-S3	cervix:
25	chr11:74204339..74204947-chr12:7052537..7053170,2	Hela-S3	cervix:
26	chr11:74185863..74187634-chr11:74201904..74204642,2	K562	blood:
27	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
28	chr11:74196733..74198968-chr11:74202003..74205722,4	K562	blood:
29	chr11:74193194..74197220-chr11:74198033..74200681,3	K562	blood:
30	chr11:74203221..74207585-chr11:74212498..74217761,7	K562	blood:
31	chr11:74167420..74170050-chr11:74170321..74173103,2	MCF-7	breast:
32	chr11:74172990..74175155-chr11:74199456..74202165,2	K562	blood:
33	chr11:74203316..74206013-chr11:74301160..74305311,5	MCF-7	breast:
34	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
35	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
36	chr11:74204419..74204973-chr6:123110245..123110887,2	Hela-S3	cervix:
37	chr11:74199497..74201596-chr11:74201884..74204811,3	K562	blood:
38	chr11:74169758..74172325-chr11:74204191..74206118,2	K562	blood:
39	chr11:74204313..74206449-chr16:3506549..3509156,2	MCF-7	breast:
40	chr11:74171659..74173234-chr11:74174907..74176791,2	MCF-7	breast:
41	chr11:74185351..74193647-chr11:74202565..74206845,12	MCF-7	breast:
42	chr11:74189754..74191906-chr11:74197313..74199883,3	MCF-7	breast:
43	chr11:74196620..74198242-chr11:74204138..74205722,2	K562	blood:
44	chr11:74194748..74197012-chr11:74203038..74205588,2	MCF-7	breast:
45	chr11:74178947..74181587-chr11:74185262..74186859,2	K562	blood:
46	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
47	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
48	chr11:74164577..74165120-chr11:74214878..74215449,2	MCF-7	breast:
49	chr11:74212022..74214778-chr11:74214834..74217303,2	K562	blood:
50	chr11:74175366..74177621-chr11:74184353..74186919,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-4	chr11:74196670-74196787	ENSG00000254631.1
2	lnc-POLD3-5	chr11:74193295-74193587	NONHSAT022902
3	lnc-POLD3-4	chr11:74195222-74195293	ENSG00000254631.1
4	lnc-LIPT2-1	chr11:74196625-74197096	NONHSAT022903

No data

Variant related genes	Relation type
ENSG00000254837	TF binding region
KCNE3	TF binding region
POLD3	TF binding region
ENSG00000254974	TF binding region
CYCSP27	TF binding region
LIPT2	TF binding region
ENSG00000254837	CpG island
KCNE3	CpG island
POLD3	CpG island
ENSG00000254974	CpG island
CYCSP27	CpG island
LIPT2	CpG island
ENSG00000172594	chromatin interactions
ENSG00000254928	chromatin interactions
ENSG00000255444	chromatin interactions
ENSG00000136003	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000065154	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000254974	chromatin interactions
ENSG00000255507	chromatin interactions
ENSG00000175538	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000262621	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000273004	chromatin interactions
ENSG00000239900	chromatin interactions
ENSG00000254837	chromatin interactions
ENSG00000175536	chromatin interactions
ENSG00000168404	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000137513	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000122390	chromatin interactions
ENSG00000198382	chromatin interactions
ENSG00000077514	chromatin interactions

Extended variants
information (count: 1671 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1671 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11236116	chr11:74171997-74171998	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144945891	chr11:74172016-74172017	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs541456713	chr11:74172053-74172054	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs183782232	chr11:74172061-74172062	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs529080501	chr11:74172062-74172063	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs138132478	chr11:74172063-74172064	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs187923911	chr11:74172089-74172090	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs192947485	chr11:74172201-74172202	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs141773037	chr11:74172219-74172220	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs533261321	chr11:74172263-74172264	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs549816988	chr11:74172310-74172311	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs71869411	chr11:74172334-74172335	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs4018948	chr11:74172338-74172339	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs59811393	chr11:74172339-74172340	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs61901500	chr11:74172341-74172342	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs373650391	chr11:74172364-74172365	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs199932587	chr11:74172365-74172366	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs554906131	chr11:74172369-74172370	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs112578727	chr11:74172400-74172401	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs549095825	chr11:74172423-74172424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs139562143	chr11:74172425-74172426	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs183531535	chr11:74172426-74172427	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552017377	chr11:74172438-74172439	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs571826784	chr11:74172463-74172464	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs550639168	chr11:74172466-74172467	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs149279467	chr11:74172468-74172469	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs78047566	chr11:74172483-74172484	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs7131421	chr11:74172532-74172533	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188177161	chr11:74172533-74172534	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs535466345	chr11:74172583-74172584	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs114588736	chr11:74172639-74172640	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs545345800	chr11:74172671-74172672	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs192346792	chr11:74172698-74172699	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs111340162	chr11:74172726-74172727	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs569082350	chr11:74172813-74172814	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs370929868	chr11:74172820-74172821	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs199671394	chr11:74172844-74172845	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs375348221	chr11:74172851-74172852	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557533265	chr11:74172853-74172854	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs74759768	chr11:74172871-74172872	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs144495712	chr11:74172896-74172897	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs543205945	chr11:74172906-74172907	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs184658709	chr11:74172941-74172942	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs539076522	chr11:74172950-74172951	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs189498184	chr11:74172951-74172952	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs72550291	chr11:74172963-74172964	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs4468377	chr11:74172987-74172988	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs529349047	chr11:74172992-74172993	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs575437940	chr11:74173054-74173055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs41312344	chr11:74173058-74173059	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74160000-74173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:74160400-74177800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:74160600-74173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:74161000-74173000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:74161400-74172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:74166000-74172600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:74166800-74172800	Weak transcription	Left Ventricle	heart
8	chr11:74166800-74173000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:74167000-74172200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:74167400-74175600	Strong transcription	Fetal Stomach	stomach
11	chr11:74167600-74172400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:74168600-74173200	Weak transcription	Spleen	Spleen
13	chr11:74168600-74175000	Weak transcription	Esophagus	oesophagus
14	chr11:74168600-74177600	Weak transcription	Small Intestine	intestine
15	chr11:74169000-74174200	Weak transcription	Gastric	stomach
16	chr11:74169200-74172800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:74169400-74172400	Enhancers	Stomach Mucosa	stomach
18	chr11:74170000-74172400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:74170400-74172000	Enhancers	Pancreas	Pancrea
20	chr11:74170600-74172000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr11:74170600-74172400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:74170600-74173600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:74170800-74172200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:74171000-74172200	Enhancers	Hela-S3	cervix
25	chr11:74171000-74173000	Enhancers	Liver	Liver
26	chr11:74171200-74172200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:74171200-74172200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:74171200-74172200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
29	chr11:74171200-74172200	Enhancers	Right Atrium	heart
30	chr11:74171200-74173200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
31	chr11:74171200-74173400	Active TSS	Primary B cells from cord blood	blood
32	chr11:74171400-74172000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:74171400-74172000	Enhancers	Fetal Thymus	thymus
34	chr11:74171400-74172000	Enhancers	Psoas Muscle	Psoas
35	chr11:74171400-74172000	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:74171400-74172000	Enhancers	HSMMtube	muscle
37	chr11:74171400-74172200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:74171400-74172200	Enhancers	HUVEC	blood vessel
39	chr11:74171400-74172200	Transcr. at gene 5' and 3'	K562	blood
40	chr11:74171400-74172600	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:74171400-74172800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:74171400-74173000	Enhancers	A549	lung
43	chr11:74171400-74173200	Weak transcription	Colonic Mucosa	Colon
44	chr11:74171400-74173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:74171600-74172000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:74171600-74172000	Enhancers	Ovary	ovary
47	chr11:74171600-74172000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:74171600-74172200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:74171600-74172200	Genic enhancers	Fetal Lung	lung
50	chr11:74171600-74172200	Genic enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links