Variant report

Variant	rs12476893
Chromosome Location	chr2:67876788-67876789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67866969..67869436-chr2:67874841..67877617,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1D-7	chr2:67876690-67877234	NONHSAT071302

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

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

rs_ID	r²[population]
rs1430783	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1430784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17034087	0.89[ASN][1000 genomes]
rs1897182	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897183	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897184	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2902028	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58185557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621575	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621576	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72621577	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621580	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621581	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621582	0.92[ASN][1000 genomes]
rs72621584	0.92[ASN][1000 genomes]
rs972901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67872800-67876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:67873200-67877000	Weak transcription	Gastric	stomach
4	chr2:67873600-67877000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:67873800-67877000	Weak transcription	Right Ventricle	heart
6	chr2:67874000-67876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:67874800-67876800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:67875000-67877200	Enhancers	Fetal Kidney	kidney
9	chr2:67875000-67878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:67875200-67879000	Enhancers	Hela-S3	cervix
11	chr2:67875200-67879200	Enhancers	Fetal Stomach	stomach
12	chr2:67875600-67876800	Enhancers	Fetal Lung	lung
13	chr2:67875600-67877000	Weak transcription	Psoas Muscle	Psoas
14	chr2:67875600-67878800	Enhancers	Adipose Nuclei	Adipose
15	chr2:67875800-67877400	Enhancers	Fetal Heart	heart
16	chr2:67876200-67877200	Enhancers	Pancreas	Pancrea
17	chr2:67876200-67877400	Enhancers	Right Atrium	heart
18	chr2:67876200-67877600	Enhancers	Left Ventricle	heart
19	chr2:67876200-67878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:67876200-67878800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:67876200-67879000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:67876200-67879000	Enhancers	Colon Smooth Muscle	Colon
23	chr2:67876200-67879000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:67876200-67879000	Enhancers	Ovary	ovary
25	chr2:67876200-67879200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:67876400-67876800	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:67876400-67877000	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:67876400-67877200	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr2:67876400-67877400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:67876400-67877400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:67876400-67877600	Enhancers	NHLF	lung
32	chr2:67876400-67878400	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:67876400-67878800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:67876400-67878800	Enhancers	A549	lung
35	chr2:67876400-67878800	Enhancers	HSMM	muscle
36	chr2:67876400-67879000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:67876400-67879000	Enhancers	NHDF-Ad	bronchial
38	chr2:67876400-67879400	Enhancers	Brain Germinal Matrix	brain
39	chr2:67876600-67877600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:67876600-67877800	Weak transcription	Placenta	Placenta
41	chr2:67876600-67878000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:67876600-67879000	Enhancers	HSMMtube	muscle
43	chr2:67876600-67879000	Enhancers	NH-A	brain

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