Variant report

Variant	rs11602266
Chromosome Location	chr11:57094509-57094510
allele	A/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	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:57092189-57094529	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:57094483-57094735	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:57094393-57094555	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57065389..57068146-chr11:57093354..57095696,2	MCF-7	breast:
2	chr11:57094351..57096693-chr11:57193203..57197242,3	K562	blood:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000134802	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.85[EUR][1000 genomes]
rs11228995	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11603691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606862	0.80[AMR][1000 genomes]
rs11607950	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12364724	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12365472	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57093200-57094600	Enhancers	Pancreas	Pancrea
2	chr11:57093200-57101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57093200-57102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:57093400-57094600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:57093400-57094600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:57093400-57094600	Genic enhancers	Esophagus	oesophagus
7	chr11:57093400-57094600	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:57093400-57102000	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:57093600-57094600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:57093600-57094600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:57093600-57094600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:57093600-57094600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:57093600-57094600	Genic enhancers	Fetal Intestine Small	intestine
14	chr11:57093600-57094600	Genic enhancers	Left Ventricle	heart
15	chr11:57093600-57094600	Genic enhancers	HUVEC	blood vessel
16	chr11:57093600-57095600	Weak transcription	Aorta	Aorta
17	chr11:57093600-57098400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:57093600-57101400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:57093600-57101600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:57093600-57102000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57093800-57094600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:57093800-57094600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:57093800-57094600	Genic enhancers	A549	lung
24	chr11:57093800-57094600	Genic enhancers	HMEC	breast
25	chr11:57093800-57094600	Genic enhancers	NHDF-Ad	bronchial
26	chr11:57093800-57094800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:57093800-57094800	Genic enhancers	Fetal Kidney	kidney
28	chr11:57093800-57095200	Genic enhancers	K562	blood
29	chr11:57093800-57098800	Genic enhancers	Dnd41	blood
30	chr11:57093800-57100400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:57093800-57100600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57093800-57100800	Strong transcription	Brain Cingulate Gyrus	brain
33	chr11:57093800-57100800	Strong transcription	HSMMtube	muscle
34	chr11:57093800-57101000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:57093800-57101000	Strong transcription	Brain Angular Gyrus	brain
36	chr11:57093800-57101000	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:57093800-57101200	Strong transcription	Fetal Brain Female	brain
38	chr11:57093800-57101600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:57093800-57101600	Strong transcription	Brain Anterior Caudate	brain
40	chr11:57093800-57101800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:57093800-57102000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:57094000-57094600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:57094000-57094600	Genic enhancers	Gastric	stomach
44	chr11:57094000-57094600	Genic enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:57094000-57094600	Genic enhancers	GM12878-XiMat	blood
46	chr11:57094000-57094800	Genic enhancers	Duodenum Mucosa	Duodenum
47	chr11:57094000-57095200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:57094000-57095200	Strong transcription	Fetal Brain Male	brain
49	chr11:57094000-57095400	Genic enhancers	Lung	lung
50	chr11:57094000-57096000	Genic enhancers	Hela-S3	cervix

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