Variant report

Variant	rs7121013
Chromosome Location	chr11:9334961-9334962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:9334920-9337042	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
2	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
3	chr11:9333302..9335667-chr11:9353221..9354766,2	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
6	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
7	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:
8	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	TF binding region
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1039210	0.86[YRI][hapmap]
rs10743104	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743105	0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10769995	0.82[YRI][hapmap]
rs10770002	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770003	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770004	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770008	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770010	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770013	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770016	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840196	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840200	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840204	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840205	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840207	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840208	0.86[ASN][1000 genomes]
rs11042252	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042256	0.86[ASN][1000 genomes]
rs11042262	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042264	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042265	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042266	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042269	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042274	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042278	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11500788	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602591	0.86[ASN][1000 genomes]
rs12577661	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12796666	0.81[ASN][1000 genomes]
rs12801814	0.85[ASN][1000 genomes]
rs2133216	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs34446443	0.85[ASN][1000 genomes]
rs34716494	0.83[ASN][1000 genomes]
rs35381016	0.83[ASN][1000 genomes]
rs35686957	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4325312	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4343026	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4369406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4447178	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4570580	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601779	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4641476	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5014247	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs61875672	0.85[ASN][1000 genomes]
rs61875673	0.86[ASN][1000 genomes]
rs61877916	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6486206	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs6486210	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs6486231	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs7101432	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7104221	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs7112540	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap]
rs7114688	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs7116459	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7123342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123970	0.84[YRI][hapmap]
rs71476818	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358313	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358392	0.83[ASN][1000 genomes]
rs7395151	0.82[YRI][hapmap]
rs7396439	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs7952508	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9888193	0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs9888229	0.87[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
9	esv1810183	chr11:9323886-9334961	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv553464	chr11:9323886-9334961	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9321200-9335200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:9321400-9335000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:9321400-9335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:9332400-9335200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9332800-9335000	Enhancers	Brain Angular Gyrus	brain
6	chr11:9332800-9336800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:9333000-9335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:9333000-9336800	Active TSS	Psoas Muscle	Psoas
9	chr11:9333200-9335000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:9333600-9335000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:9333600-9335000	Enhancers	Brain Anterior Caudate	brain
12	chr11:9333800-9335000	Enhancers	Stomach Mucosa	stomach
13	chr11:9334000-9335000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:9334000-9335000	Weak transcription	Colonic Mucosa	Colon
15	chr11:9334000-9335000	Weak transcription	Ovary	ovary
16	chr11:9334000-9335200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:9334000-9335200	Weak transcription	Small Intestine	intestine
18	chr11:9334000-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:9334000-9336600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:9334000-9336800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:9334200-9335000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:9334200-9335000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:9334200-9335200	Weak transcription	Gastric	stomach
24	chr11:9334200-9335200	Weak transcription	Left Ventricle	heart
25	chr11:9334200-9335200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:9334200-9335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:9334200-9335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:9334200-9335400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:9334200-9335400	Weak transcription	Esophagus	oesophagus
30	chr11:9334200-9335400	Weak transcription	Lung	lung
31	chr11:9334200-9335400	Weak transcription	Pancreas	Pancrea
32	chr11:9334200-9335400	Weak transcription	Spleen	Spleen
33	chr11:9334200-9335600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:9334200-9335600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:9334200-9336400	Active TSS	Hela-S3	cervix
36	chr11:9334200-9336400	Active TSS	HSMM	muscle
37	chr11:9334200-9336600	Active TSS	HMEC	breast
38	chr11:9334200-9336600	Active TSS	K562	blood
39	chr11:9334400-9335000	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:9334400-9335000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:9334600-9335000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:9334600-9335000	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:9334600-9335000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:9334600-9335000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:9334600-9335000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:9334600-9335000	Active TSS	Fetal Brain Female	brain
47	chr11:9334600-9335000	Enhancers	Fetal Intestine Small	intestine
48	chr11:9334600-9335200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:9334600-9335200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:9334600-9335200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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