Variant report

Variant	rs11778460
Chromosome Location	chr8:131034168-131034169
allele	C/G
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	MAX	chr8:131033842-131034385	MCF-7	breast:	n/a	n/a
2	FOXA1	chr8:131033969-131034305	T-47D	breast:	n/a	chr8:131034218-131034230
3	POLR2A	chr8:131033906-131034414	H1-neurons	neurons:	n/a	n/a
4	FOXA1	chr8:131033966-131034302	T-47D	breast:	n/a	chr8:131034218-131034230
5	POLR2A	chr8:131033944-131034416	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131032809..131035482-chr8:131037784..131039457,2	K562	blood:
2	chr8:130983642..130985327-chr8:131033782..131036207,2	MCF-7	breast:

Variant related genes	Relation type
FAM49B	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11774067	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes]
rs11777289	1.00[CHD][hapmap];0.85[TSI][hapmap]
rs11778252	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes]
rs11782152	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1349847	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs17194770	1.00[LWK][hapmap]
rs4319146	1.00[AFR][1000 genomes]
rs4639572	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs72720365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131029400-131041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131029600-131036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:131029600-131039000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:131029800-131034600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:131032600-131036200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:131032600-131036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:131032600-131041000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:131032600-131042000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:131032800-131036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:131032800-131040400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:131032800-131041200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:131033200-131034200	Enhancers	K562	blood
15	chr8:131033600-131035200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131033600-131035400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:131033800-131035600	Enhancers	Fetal Heart	heart
18	chr8:131034000-131034200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:131034000-131034200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:131034000-131034200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:131034000-131034200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:131034000-131034400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:131034000-131034400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:131034000-131034400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:131034000-131034400	Enhancers	Fetal Thymus	thymus
26	chr8:131034000-131034400	Enhancers	Hela-S3	cervix
27	chr8:131034000-131035000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:131034000-131035200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:131034000-131035200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:131034000-131035400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:131034000-131036400	Enhancers	A549	lung

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