Variant report

Variant	rs2686372
Chromosome Location	chr12:121605826-121605827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121604725..121607272-chr12:121663466..121665293,2	MCF-7	breast:
2	chr12:121604306..121607108-chr12:121620261..121622933,3	MCF-7	breast:
3	chr12:121559081..121561979-chr12:121605012..121606674,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11065474	0.87[ASN][1000 genomes]
rs12813980	1.00[CHB][hapmap]
rs12817169	1.00[CHB][hapmap]
rs12819523	1.00[CHB][hapmap]
rs12819930	1.00[CHB][hapmap]
rs17432871	1.00[CHB][hapmap]
rs17434640	1.00[CHB][hapmap]
rs17525809	1.00[CHB][hapmap]
rs2071272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2071273	0.80[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208302	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2272076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2288691	1.00[AMR][1000 genomes]
rs2288693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs25642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969487	1.00[AMR][1000 genomes]
rs3751145	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3815990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57379013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57419819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57983015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60714133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60979871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs618201	1.00[CHB][hapmap]
rs670541	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:121594000-121612600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
10	chr12:121595200-121606200	Strong transcription	Brain Angular Gyrus	brain
11	chr12:121596000-121614800	Weak transcription	Gastric	stomach
12	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
13	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
15	chr12:121596400-121606800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121596400-121609000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr12:121596400-121609400	Strong transcription	Brain Hippocampus Middle	brain
18	chr12:121596400-121610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:121597800-121606600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:121598400-121606200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:121598600-121610400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
25	chr12:121599600-121606000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr12:121599800-121606600	Strong transcription	Liver	Liver
27	chr12:121600000-121610200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
29	chr12:121603600-121606600	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr12:121603600-121608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:121603800-121608600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:121604000-121615800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:121604200-121613200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:121604200-121613200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:121604200-121613800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:121604200-121614600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:121604200-121619800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:121604400-121613200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:121604400-121614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:121604400-121622200	Weak transcription	Lung	lung
42	chr12:121604600-121611400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:121605000-121606400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:121605400-121606200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:121605400-121607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:121605400-121608200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:121605400-121611200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:121605400-121611200	Weak transcription	Pancreas	Pancrea
50	chr12:121605400-121611200	Weak transcription	Spleen	Spleen

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