Variant report

Variant	rs11695502
Chromosome Location	chr2:56094999-56095000
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	chr2:56094233..56095750-chr2:56109550..56111256,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10173401	0.86[ASN][1000 genomes]
rs10186499	0.86[ASN][1000 genomes]
rs11680015	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11682872	0.89[ASN][1000 genomes]
rs11691472	1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs13403273	0.86[ASN][1000 genomes]
rs13404859	0.86[ASN][1000 genomes]
rs4260283	0.86[ASN][1000 genomes]
rs55867135	0.82[ASN][1000 genomes]
rs56122343	0.89[ASN][1000 genomes]
rs56666949	0.95[EUR][1000 genomes]
rs57419817	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59870589	0.89[ASN][1000 genomes]
rs59877895	0.86[ASN][1000 genomes]
rs7563085	1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs7589466	0.88[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
2	chr2:56089200-56097000	Weak transcription	Lung	lung
3	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
4	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
5	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
6	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
8	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
9	chr2:56090800-56095000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
11	chr2:56092000-56099200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56092400-56100000	Genic enhancers	Osteobl	bone
13	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
14	chr2:56092600-56102600	Strong transcription	HSMM	muscle
15	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:56093000-56097200	Weak transcription	NH-A	brain
19	chr2:56093000-56097600	Weak transcription	NHLF	lung
20	chr2:56093000-56098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:56093200-56096200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:56093600-56096600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:56093800-56095200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:56094000-56095000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:56094000-56095800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56094200-56095400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:56094200-56095800	Strong transcription	HMEC	breast
29	chr2:56094200-56096000	Enhancers	Ovary	ovary
30	chr2:56094200-56096000	Strong transcription	NHEK	skin
31	chr2:56094600-56095000	Enhancers	A549	lung
32	chr2:56094800-56095200	Strong transcription	Placenta	Placenta
33	chr2:56094800-56095600	Strong transcription	Adipose Nuclei	Adipose
34	chr2:56094800-56095600	Enhancers	NHDF-Ad	bronchial
35	chr2:56094800-56096200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:56094800-56116200	Weak transcription	Spleen	Spleen

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