Variant report

Variant	rs3794067
Chromosome Location	chr11:71194355-71194356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
2	chr11:71194336..71196595-chr11:71275951..71277679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204572	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1044535	0.91[EUR][1000 genomes]
rs10751102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898117	0.91[EUR][1000 genomes]
rs11233555	0.82[CHB][hapmap]
rs11233606	0.91[EUR][1000 genomes]
rs11608138	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623080	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1626291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1790325	0.91[EUR][1000 genomes]
rs1790326	0.91[EUR][1000 genomes]
rs1790327	0.91[EUR][1000 genomes]
rs1790329	0.91[EUR][1000 genomes]
rs1790334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790337	0.81[EUR][1000 genomes]
rs1790346	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.91[EUR][1000 genomes]
rs1790348	0.91[EUR][1000 genomes]
rs1790351	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.91[EUR][1000 genomes]
rs1790355	0.91[EUR][1000 genomes]
rs1790356	0.86[EUR][1000 genomes]
rs1790357	0.91[EUR][1000 genomes]
rs1790373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.91[EUR][1000 genomes]
rs1792268	0.91[EUR][1000 genomes]
rs1792270	0.91[EUR][1000 genomes]
rs1792271	0.91[EUR][1000 genomes]
rs1792272	0.91[EUR][1000 genomes]
rs1792273	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs1792274	0.91[EUR][1000 genomes]
rs1792275	0.91[EUR][1000 genomes]
rs1792276	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792279	0.94[EUR][1000 genomes]
rs1792285	0.91[EUR][1000 genomes]
rs1792316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282619	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	0.90[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944997	1.00[CEU][hapmap]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	0.91[EUR][1000 genomes]
rs7110316	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113783	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.91[EUR][1000 genomes]
rs7129099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	0.91[EUR][1000 genomes]
rs7690	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
3	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:71172200-71195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:71180600-71199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:71180800-71197600	Strong transcription	Fetal Intestine Small	intestine
7	chr11:71180800-71198400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:71180800-71199400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:71182000-71197600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:71182000-71197800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:71182000-71198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:71182000-71198800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:71182200-71195800	Strong transcription	Lung	lung
17	chr11:71182200-71197800	Strong transcription	Brain Cingulate Gyrus	brain
18	chr11:71182200-71197800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr11:71182200-71198000	Strong transcription	Brain Hippocampus Middle	brain
20	chr11:71182200-71198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:71182200-71198400	Strong transcription	Brain Anterior Caudate	brain
22	chr11:71182200-71198600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:71182200-71198600	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:71182200-71198600	Strong transcription	Fetal Stomach	stomach
25	chr11:71182200-71211000	Strong transcription	Liver	Liver
26	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
30	chr11:71182400-71197000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr11:71182400-71197600	Strong transcription	Colonic Mucosa	Colon
32	chr11:71182400-71197800	Strong transcription	Primary B cells from cord blood	blood
33	chr11:71182400-71197800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:71182400-71197800	Strong transcription	Aorta	Aorta
35	chr11:71182400-71197800	Strong transcription	Brain Angular Gyrus	brain
36	chr11:71182400-71197800	Strong transcription	Fetal Brain Female	brain
37	chr11:71182400-71197800	Strong transcription	Fetal Intestine Large	intestine
38	chr11:71182400-71197800	Strong transcription	Rectal Smooth Muscle	rectum
39	chr11:71182400-71198200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:71182400-71198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:71182400-71198400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:71182400-71198400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:71182400-71198400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:71182400-71198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:71182400-71198800	Strong transcription	GM12878-XiMat	blood
46	chr11:71182400-71199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:71182400-71199600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:71182400-71199800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:71182400-71213800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:71182400-71217200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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