Variant report

Variant	rs2532605
Chromosome Location	chr11:67091193-67091194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67088729..67091656-chr11:67105990..67108067,2	K562	blood:
2	chr11:67088738..67091729-chr11:67113065..67116327,3	MCF-7	breast:
3	chr11:67032012..67034132-chr11:67089605..67092011,2	K562	blood:
4	chr11:67076937..67081863-chr11:67086712..67091272,5	K562	blood:
5	chr11:67089180..67091278-chr11:67103775..67106325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173020	Chromatin interaction
ENSG00000172830	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736657	0.85[ASN][1000 genomes]
rs10896166	0.95[ASN][1000 genomes]
rs10896172	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs12288048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12788405	0.96[EUR][1000 genomes]
rs12790040	0.84[ASN][1000 genomes]
rs12791853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12805811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558257	1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs1638569	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17878756	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883741	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1790737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790762	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944096	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286619	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429459	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429463	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511057	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514257	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852875	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2852877	0.88[YRI][hapmap]
rs34000912	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34087937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35176549	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35821109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35876769	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35992831	0.83[EUR][1000 genomes]
rs3737460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4244822	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930192	0.88[MEX][hapmap]
rs4930197	1.00[GIH][hapmap]
rs4930418	0.88[MEX][hapmap]
rs61734600	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591241	0.88[ASN][1000 genomes]
rs66466718	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71457775	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7394531	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867193	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326373	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9734588	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086000-67104400	Weak transcription	Aorta	Aorta
2	chr11:67086200-67092200	Weak transcription	HSMMtube	muscle
3	chr11:67086200-67097400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:67086200-67101400	Weak transcription	Colonic Mucosa	Colon
5	chr11:67086200-67113600	Weak transcription	Osteobl	bone
6	chr11:67086400-67098000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:67086400-67100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:67086400-67102800	Weak transcription	Liver	Liver
9	chr11:67086400-67104000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:67086400-67110200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:67086400-67111200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:67086400-67111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:67086400-67112600	Weak transcription	Fetal Lung	lung
14	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:67086600-67091400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:67086600-67096000	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:67086600-67097800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:67086600-67099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:67086600-67100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:67086600-67103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:67086600-67111200	Weak transcription	Primary B cells from cord blood	blood
22	chr11:67086600-67111200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:67086800-67091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:67086800-67092800	Weak transcription	Dnd41	blood
26	chr11:67086800-67099000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:67086800-67099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:67086800-67100200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:67086800-67101200	Weak transcription	A549	lung
30	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
31	chr11:67087000-67092200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:67087000-67099000	Weak transcription	NHEK	skin
33	chr11:67087000-67100400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:67087000-67101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:67087000-67111800	Weak transcription	Gastric	stomach
36	chr11:67087000-67112800	Weak transcription	Hela-S3	cervix
37	chr11:67087000-67113400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:67087800-67113800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
40	chr11:67088000-67103000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:67088200-67101400	Weak transcription	Ovary	ovary
42	chr11:67088400-67091200	Strong transcription	Fetal Stomach	stomach
43	chr11:67088400-67100800	Weak transcription	Right Ventricle	heart
44	chr11:67088800-67091600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:67089400-67098600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:67089400-67116800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:67089600-67091400	Strong transcription	Esophagus	oesophagus
48	chr11:67089800-67094000	Weak transcription	K562	blood
49	chr11:67089800-67117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:67090000-67100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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