Variant report

Variant	rs12611496
Chromosome Location	chr2:99374617-99374618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99367443..99369636-chr2:99372138..99374766,2	MCF-7	breast:
2	chr2:99374384..99376088-chr2:99411488..99413627,2	MCF-7	breast:
3	chr2:99373723..99375760-chr2:99377966..99380298,2	MCF-7	breast:
4	chr2:99373556..99376525-chr2:99380957..99383343,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10496331	0.96[ASN][1000 genomes]
rs11123750	0.96[ASN][1000 genomes]
rs12616910	0.96[ASN][1000 genomes]
rs2871242	0.80[ASN][1000 genomes]
rs35979410	0.80[ASN][1000 genomes]
rs56943554	0.85[ASN][1000 genomes]
rs57480100	0.85[ASN][1000 genomes]
rs61419135	0.85[ASN][1000 genomes]
rs61552487	0.85[ASN][1000 genomes]
rs61604726	0.85[ASN][1000 genomes]
rs62157964	1.00[AMR][1000 genomes]
rs62157965	1.00[AMR][1000 genomes]
rs62157967	1.00[AMR][1000 genomes]
rs72956641	0.96[ASN][1000 genomes]
rs72956642	0.96[ASN][1000 genomes]
rs72956651	0.96[ASN][1000 genomes]
rs72958631	0.81[ASN][1000 genomes]
rs7557719	0.88[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99372200-99380800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:99373400-99378600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:99373600-99374800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr2:99373600-99374800	Enhancers	Stomach Mucosa	stomach
5	chr2:99373600-99375200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:99373600-99377800	Enhancers	HUVEC	blood vessel
7	chr2:99373600-99378400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:99373600-99378800	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:99373800-99375200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:99373800-99375200	Flanking Active TSS	Dnd41	blood
11	chr2:99373800-99376800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:99373800-99378800	Enhancers	Fetal Thymus	thymus
13	chr2:99373800-99388000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:99374000-99374800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:99374000-99374800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:99374000-99374800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:99374000-99374800	Enhancers	Esophagus	oesophagus
18	chr2:99374000-99374800	Enhancers	Ovary	ovary
19	chr2:99374000-99374800	Enhancers	Pancreas	Pancrea
20	chr2:99374000-99374800	Enhancers	Right Atrium	heart
21	chr2:99374000-99374800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:99374000-99374800	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:99374000-99375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:99374000-99375000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr2:99374000-99375000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:99374000-99375000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:99374000-99375000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:99374000-99375000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:99374000-99375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:99374000-99375200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:99374000-99375200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:99374000-99375400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:99374000-99377400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:99374000-99378000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:99374200-99374800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:99374200-99374800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:99374200-99374800	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:99374200-99374800	Enhancers	Fetal Stomach	stomach
39	chr2:99374200-99374800	Enhancers	Gastric	stomach
40	chr2:99374200-99375000	Enhancers	Placenta	Placenta
41	chr2:99374200-99375200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:99374200-99375200	Enhancers	NHDF-Ad	bronchial
43	chr2:99374400-99374800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:99374400-99374800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:99374400-99374800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:99374400-99374800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:99374400-99374800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:99374400-99374800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:99374400-99374800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:99374400-99374800	Flanking Active TSS	Colonic Mucosa	Colon

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