Variant report

Variant	rs10091637
Chromosome Location	chr8:11144314-11144315
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	GATA3	chr8:11144258-11144704	T-47D	breast:	n/a	n/a
2	JUND	chr8:11144203-11144798	T-47D	breast:	n/a	n/a
3	FOXA1	chr8:11144257-11144617	T-47D	breast:	n/a	n/a
4	FOXA1	chr8:11144196-11144977	T-47D	breast:	n/a	n/a
5	GATA3	chr8:11144280-11144711	T-47D	breast:	n/a	n/a
6	EP300	chr8:11144264-11144706	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11142870..11145744-chr8:11152405..11154351,2	K562	blood:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10108740	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11782742	0.96[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12680792	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1369368	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1435279	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1529856	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529858	0.84[AMR][1000 genomes]
rs1545073	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2016285	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2117616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245937	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2256016	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272594	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409754	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409755	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572420	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572426	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572428	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736258	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2736385	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736387	0.89[CEU][hapmap];0.89[CHB][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736388	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736390	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808507	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3808515	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808516	0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3824212	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4410870	0.84[CEU][hapmap]
rs4515509	0.89[EUR][1000 genomes]
rs4841517	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4841518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718427	0.89[CHB][hapmap]
rs7813424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11141600-11144400	Active TSS	GM12878-XiMat	blood
2	chr8:11142800-11145000	Enhancers	Small Intestine	intestine
3	chr8:11143000-11144600	Flanking Active TSS	Dnd41	blood
4	chr8:11143000-11145000	Enhancers	Spleen	Spleen
5	chr8:11143000-11145200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:11143000-11145200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:11143000-11146000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:11143000-11146000	Weak transcription	Lung	lung
9	chr8:11143000-11146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:11143000-11149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
13	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
14	chr8:11143200-11144400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:11143200-11145200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:11143400-11144400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:11143400-11144400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:11143400-11144400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:11143400-11144400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:11143400-11144400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:11143400-11144400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:11143400-11144400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:11143400-11144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:11143400-11144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:11143400-11144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:11143400-11144400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:11143400-11144400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:11143400-11144400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:11143400-11144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:11143400-11144400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:11143400-11144400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:11143400-11144400	Weak transcription	Fetal Lung	lung
33	chr8:11143400-11144400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr8:11143400-11144400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:11143400-11144400	Weak transcription	HMEC	breast
36	chr8:11143400-11144400	Weak transcription	HSMM	muscle
37	chr8:11143400-11144600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:11143400-11144600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:11143400-11144600	Enhancers	Fetal Brain Male	brain
40	chr8:11143400-11144600	Weak transcription	Fetal Heart	heart
41	chr8:11143400-11144600	Active TSS	Hela-S3	cervix
42	chr8:11143400-11144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:11143400-11144800	Enhancers	Liver	Liver
44	chr8:11143400-11144800	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:11143400-11145000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:11143400-11145000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:11143400-11145000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:11143400-11145000	Enhancers	Brain Germinal Matrix	brain
49	chr8:11143400-11146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:11143400-11146000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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