Variant report

Variant	rs71457775
Chromosome Location	chr11:67152740-67152741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67120735..67122437-chr11:67152520..67155021,2	K562	blood:
2	chr11:67033643..67035508-chr11:67151370..67153756,2	MCF-7	breast:
3	chr11:67146395..67148840-chr11:67151114..67153909,2	K562	blood:
4	chr11:67150613..67154533-chr11:67231554..67235201,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173020	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10736657	0.82[ASN][1000 genomes]
rs10896166	0.92[ASN][1000 genomes]
rs12788405	0.89[EUR][1000 genomes]
rs12790040	0.81[ASN][1000 genomes]
rs12791853	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12805811	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419861	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638569	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878756	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17883741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790731	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790735	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1790737	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790738	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790739	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790762	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894112	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1944096	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298815	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429459	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429463	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511057	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514257	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2532605	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852875	0.89[ASN][1000 genomes]
rs34000912	0.85[ASN][1000 genomes]
rs34087937	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35176549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35821109	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737460	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244822	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61734600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591241	0.85[ASN][1000 genomes]
rs66466718	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7394531	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7934433	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs867193	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326373	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9734588	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67145200-67158400	Weak transcription	Right Atrium	heart
2	chr11:67147000-67154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:67147200-67158600	Weak transcription	Lung	lung
4	chr11:67147400-67158200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:67147600-67156800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:67149000-67156600	Weak transcription	Colonic Mucosa	Colon
7	chr11:67150200-67153000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:67150200-67154200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:67150200-67154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:67150200-67154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:67150200-67154400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:67150200-67154400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:67150200-67156800	Weak transcription	Spleen	Spleen
14	chr11:67150200-67158200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:67150200-67158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:67150200-67158600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:67150200-67158600	Weak transcription	Ovary	ovary
18	chr11:67150400-67153000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:67150400-67153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:67150400-67154600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:67150400-67157600	Weak transcription	Right Ventricle	heart
22	chr11:67150600-67154200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:67150600-67154600	Weak transcription	K562	blood
24	chr11:67151800-67153200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:67151800-67153400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:67152000-67153000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:67152000-67153000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:67152000-67153000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:67152000-67153000	Enhancers	Stomach Smooth Muscle	stomach
30	chr11:67152000-67153000	Flanking Active TSS	A549	lung
31	chr11:67152000-67153000	Enhancers	HSMM	muscle
32	chr11:67152000-67153000	Enhancers	HSMMtube	muscle
33	chr11:67152000-67153000	Enhancers	NH-A	brain
34	chr11:67152000-67153000	Enhancers	NHEK	skin
35	chr11:67152000-67153200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:67152000-67153200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:67152000-67153200	Enhancers	HMEC	breast
38	chr11:67152000-67153200	Enhancers	Osteobl	bone
39	chr11:67152000-67153400	Enhancers	Brain Germinal Matrix	brain
40	chr11:67152000-67153400	Enhancers	Fetal Brain Female	brain
41	chr11:67152000-67153800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:67152200-67152800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:67152200-67152800	Flanking Active TSS	Hela-S3	cervix
44	chr11:67152200-67153000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:67152200-67153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:67152200-67153000	Enhancers	Brain Anterior Caudate	brain
47	chr11:67152200-67153000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:67152200-67153000	Enhancers	Colon Smooth Muscle	Colon
49	chr11:67152200-67153000	Enhancers	NHDF-Ad	bronchial
50	chr11:67152200-67153000	Enhancers	NHLF	lung

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