Variant report

Variant	rs7113581
Chromosome Location	chr11:8190696-8190697
allele	C/T
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	GABPA	chr11:8190367-8190749	GM12878	blood:	n/a	chr11:8190621-8190630
2	MXI1	chr11:8190162-8190852	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:8190287-8190702	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:8190245-8190783	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:8190165-8190798	GM19099	blood:	n/a	n/a
6	GABPA	chr11:8190293-8190854	A549	lung:	n/a	chr11:8190621-8190630
7	ELF1	chr11:8190307-8190751	GM12878	blood:	n/a	n/a
8	YY1	chr11:8190372-8190738	GM12878	blood:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
9	ZNF263	chr11:8189910-8190770	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr11:8189951-8190870	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr11:8190037-8190837	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:8190038-8190786	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr11:8190344-8190788	H1-hESC	embryonic stem cell:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
14	MAX	chr11:8189926-8190943	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr11:8190329-8190923	A549	lung:	n/a	chr11:8190624-8190633
16	TAF1	chr11:8190045-8190907	H1-neurons	neurons:	n/a	n/a
17	YY1	chr11:8190277-8190777	GM12892	blood:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
18	RUNX3	chr11:8190380-8190772	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:8189770-8190959	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:8190264-8190808	GM12878	blood:	n/a	n/a
21	GABPA	chr11:8190267-8190846	H1-hESC	embryonic stem cell:	n/a	chr11:8190621-8190630
22	GABPA	chr11:8190448-8190737	GM12878	blood:	n/a	chr11:8190621-8190630
23	GABPA	chr11:8190432-8190822	K562	blood:	n/a	chr11:8190621-8190630
24	MYC	chr11:8190021-8190797	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr11:8190380-8190843	A549	lung:	n/a	chr11:8190624-8190633
26	ZNF143	chr11:8190533-8190719	GM12878	blood:	n/a	n/a
27	REST	chr11:8190020-8190779	SK-N-SH	brain:	n/a	chr11:8190625-8190638
28	MAX	chr11:8190069-8190813	GM12878	blood:	n/a	n/a
29	YY1	chr11:8190329-8190762	SK-N-SH_RA	brain:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
30	BACH1	chr11:8189998-8190845	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr11:8189302-8191047	H1-neurons	neurons:	n/a	chr11:8190625-8190638
32	POLR2A	chr11:8190176-8190821	GM12878	blood:	n/a	n/a
33	CREB1	chr11:8189905-8190874	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr11:8190302-8190768	SK-N-SH_RA	brain:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
35	CHD2	chr11:8190390-8190784	GM12878	blood:	n/a	n/a
36	GATA2	chr11:8190042-8190747	SH-SY5Y	brain:	n/a	chr11:8190235-8190244
37	YY1	chr11:8190421-8190696	GM12891	blood:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
38	CREB1	chr11:8189902-8190900	H1-hESC	embryonic stem cell:	n/a	n/a
39	PAX5	chr11:8190394-8190717	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:8190344-8190756	GM18951	blood:	n/a	n/a
41	E2F6	chr11:8189939-8190941	H1-hESC	embryonic stem cell:	n/a	chr11:8190624-8190633
42	MAX	chr11:8190052-8190912	A549	lung:	n/a	n/a
43	MXI1	chr11:8189944-8190805	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr11:8190339-8190731	GM12878	blood:	n/a	chr11:8190624-8190633 chr11:8190624-8190638
45	POLR2A	chr11:8190048-8191050	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:8190384-8190792	GM12878	blood:	n/a	n/a
47	MXI1	chr11:8189243-8191706	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr11:8190069-8190816	GM19193	blood:	n/a	n/a
49	POLR2A	chr11:8190182-8190858	GM12892	blood:	n/a	n/a
50	MAX	chr11:8189937-8190844	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8190690-8190740	Hepatocyte	liver:	n/a
2	chr11:8190690-8190740	HIPEpiC	eye:	n/a
3	chr11:8190659-8190709	H1-hESC	embryonic stem cell:	embryo
4	chr11:8190690-8190740	AG04450	lung:	fetal
5	chr11:8190690-8190740	NHDF-neo	bronchial:	n/a
6	chr11:8190659-8190709	AoSMC	blood vessel:	n/a
7	chr11:8190670-8190720	NHBE	bronchial:	n/a
8	chr11:8190690-8190740	ovcar-3	ovarian:	n/a
9	chr11:8190670-8190720	GM12891	blood:	n/a
10	chr11:8190690-8190740	HRPEpiC	eye:	n/a
11	chr11:8190659-8190709	GM06990	blood:	n/a
12	chr11:8190659-8190709	BE2_C	brain:	n/a
13	chr11:8190659-8190709	AG09309	skin:	n/a
14	chr11:8190659-8190709	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:8190659-8190709	HNPCEpiC	eye:	n/a
16	chr11:8190690-8190740	NB4	blood:	n/a
17	chr11:8190690-8190740	HCPEpiC	choroid plexus:	n/a
18	chr11:8190670-8190720	AG04450	lung:	fetal
19	chr11:8190670-8190720	SK-N-SH	brain:	n/a
20	chr11:8190670-8190720	GM12892	blood:	n/a
21	chr11:8190690-8190740	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:8190690-8190740	HEEpiC	esophagus:	n/a
23	chr11:8190670-8190720	BJ	skin:	n/a
24	chr11:8190690-8190740	H1-hESC	embryonic stem cell:	embryo
25	chr11:8190659-8190709	Hela-S3	cervix:	n/a
26	chr11:8190670-8190720	AoSMC	blood vessel:	n/a
27	chr11:8190659-8190709	Caco-2	colon:	n/a
28	chr11:8190659-8190709	NH-A	brain:	n/a
29	chr11:8190659-8190709	HCF	heart:	n/a
30	chr11:8190659-8190709	SK-N-SH	brain:	n/a
31	chr11:8190670-8190720	CMK	blood:	n/a
32	chr11:8190659-8190709	PrEC	prostate:	n/a
33	chr11:8190690-8190740	PrEC	prostate:	n/a
34	chr11:8190690-8190740	HUVEC	blood vessel:	n/a
35	chr11:8190690-8190740	AG09319	gingival:	n/a
36	chr11:8190690-8190740	GM06990	blood:	n/a
37	chr11:8190690-8190740	AG09309	skin:	n/a
38	chr11:8190690-8190740	MCF-7	breast:	n/a
39	chr11:8190659-8190709	PANC-1	pancreas:	n/a
40	chr11:8190670-8190720	AG09309	skin:	n/a
41	chr11:8190690-8190740	HepG2	liver:	n/a
42	chr11:8190659-8190709	U87	brain:	n/a
43	chr11:8190659-8190709	GM19239	blood:	n/a
44	chr11:8190670-8190720	GM19239	blood:	n/a
45	chr11:8190690-8190740	MCF10A-Er-Src	breast:	n/a
46	chr11:8190659-8190709	RPTEC	kidney:	n/a
47	chr11:8190690-8190740	SKMC	muscle:	n/a
48	chr11:8190690-8190740	HCM	heart:	n/a
49	chr11:8190690-8190740	PANC-1	pancreas:	n/a
50	chr11:8190670-8190720	HRE	kidney:	n/a

Variant related genes	Relation type
ENSG00000246820	TF binding region
RIC3	TF binding region
ENSG00000246820	CpG island
RIC3	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10839983	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11041759	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1406093	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2272384	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3750954	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3750956	0.81[ASN][1000 genomes]
rs3930849	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758045	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758295	0.91[ASN][1000 genomes]
rs57845267	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59123180	0.95[ASN][1000 genomes]
rs6578933	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9783349	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8189400-8191000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:8189400-8191200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:8189400-8191400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:8189400-8191400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:8189400-8191400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:8189600-8190800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:8189600-8191000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:8189600-8191000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:8189600-8191000	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr11:8189600-8191000	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:8189600-8191200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:8189600-8191200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:8189600-8191200	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr11:8189600-8191400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:8189600-8191400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:8189600-8191400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:8189600-8191400	Active TSS	GM12878-XiMat	blood
18	chr11:8189800-8190800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
19	chr11:8189800-8190800	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:8189800-8190800	Active TSS	Colon Smooth Muscle	Colon
21	chr11:8189800-8191000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:8189800-8191000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:8189800-8191000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
25	chr11:8189800-8191000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr11:8189800-8191000	Active TSS	Brain Angular Gyrus	brain
28	chr11:8189800-8191000	Active TSS	Brain Hippocampus Middle	brain
29	chr11:8189800-8191000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:8189800-8191000	Active TSS	Brain Substantia Nigra	brain
31	chr11:8189800-8191000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:8189800-8191200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:8189800-8191200	Active TSS	Brain Cingulate Gyrus	brain
34	chr11:8189800-8191200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr11:8189800-8191200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr11:8189800-8191400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:8190000-8190800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:8190000-8190800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:8190000-8190800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:8190000-8190800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr11:8190000-8190800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr11:8190000-8190800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
43	chr11:8190000-8190800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr11:8190000-8190800	Flanking Active TSS	Spleen	Spleen
45	chr11:8190000-8190800	Bivalent/Poised TSS	A549	lung
46	chr11:8190000-8190800	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr11:8190000-8191000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:8190000-8191000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:8190000-8191000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:8190000-8191000	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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