Variant report

Variant	rs11609805
Chromosome Location	chr12:57735045-57735046
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	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
2	chr12:57734197..57736239-chr12:57824447..57826782,2	K562	blood:

Variant related genes	Relation type
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1106766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172134	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs11172147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172181	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11613352	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11614506	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12313306	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313762	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12315434	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2122982	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2229357	1.00[JPT][hapmap]
rs3741414	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4760254	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760278	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540730	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56205943	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61352607	0.82[EUR][1000 genomes]
rs73119306	0.81[EUR][1000 genomes]
rs7397189	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7484541	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964492	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7971133	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974833	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57691000-57736200	Weak transcription	Right Atrium	heart
2	chr12:57693600-57743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:57697000-57735400	Weak transcription	Right Ventricle	heart
6	chr12:57697200-57745000	Weak transcription	Lung	lung
7	chr12:57699800-57762400	Weak transcription	Left Ventricle	heart
8	chr12:57700000-57736000	Weak transcription	Fetal Brain Male	brain
9	chr12:57703400-57742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:57704200-57743200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:57709800-57746800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:57712800-57735400	Weak transcription	NHLF	lung
14	chr12:57713800-57745800	Weak transcription	Stomach Mucosa	stomach
15	chr12:57714400-57736200	Weak transcription	Fetal Lung	lung
16	chr12:57721200-57735600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:57722000-57741000	Weak transcription	Dnd41	blood
18	chr12:57722000-57765200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57722200-57743600	Weak transcription	Aorta	Aorta
20	chr12:57722600-57744200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:57722800-57741000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:57722800-57771200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:57723200-57735400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:57723200-57736200	Weak transcription	Fetal Brain Female	brain
26	chr12:57723800-57735400	Weak transcription	HSMMtube	muscle
27	chr12:57724400-57736200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:57725800-57743200	Weak transcription	Placenta	Placenta
29	chr12:57726000-57759800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:57726200-57741400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:57726600-57754200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:57727200-57745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:57727200-57748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:57727200-57764400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:57728000-57743800	Weak transcription	NHEK	skin
36	chr12:57728000-57766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:57728800-57746600	Weak transcription	Gastric	stomach
38	chr12:57730600-57737600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
40	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:57732600-57736000	Weak transcription	Fetal Thymus	thymus
42	chr12:57732800-57737600	Weak transcription	Primary T cells from cord blood	blood
43	chr12:57732800-57771800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:57733200-57735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:57733200-57736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:57733200-57744200	Weak transcription	Liver	Liver
47	chr12:57733400-57735400	Enhancers	Fetal Heart	heart
48	chr12:57733400-57738600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:57733400-57741200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:57733400-57742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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