Variant report

Variant	rs17278665
Chromosome Location	chr2:56095994-56095995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56088294..56090507-chr2:56095007..56097587,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11687955	0.81[ASN][1000 genomes]
rs11694213	0.81[ASN][1000 genomes]
rs11899888	0.91[CEU][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1367230	0.84[ASN][1000 genomes]
rs17047262	0.90[ASN][1000 genomes]
rs6545529	0.84[ASN][1000 genomes]
rs6726181	0.81[ASN][1000 genomes]
rs72807749	0.84[ASN][1000 genomes]
rs72807754	0.84[ASN][1000 genomes]
rs7565703	0.86[ASN][1000 genomes]
rs7582381	0.86[ASN][1000 genomes]

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	chr2:56089200-56097000	Weak transcription	Lung	lung
2	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
3	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
4	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
5	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
7	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
8	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
9	chr2:56092000-56099200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56092400-56100000	Genic enhancers	Osteobl	bone
11	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
12	chr2:56092600-56102600	Strong transcription	HSMM	muscle
13	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:56093000-56097200	Weak transcription	NH-A	brain
17	chr2:56093000-56097600	Weak transcription	NHLF	lung
18	chr2:56093000-56098600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:56093200-56096200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:56093600-56096600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:56094200-56096000	Enhancers	Ovary	ovary
23	chr2:56094200-56096000	Strong transcription	NHEK	skin
24	chr2:56094800-56096200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
26	chr2:56095000-56102600	Weak transcription	A549	lung
27	chr2:56095200-56096000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:56095200-56097600	Weak transcription	Placenta	Placenta
29	chr2:56095400-56097000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:56095600-56096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:56095600-56097000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:56095600-56097000	Weak transcription	NHDF-Ad	bronchial
33	chr2:56095600-56097600	Weak transcription	Aorta	Aorta
34	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:56095800-56096200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:56095800-56097000	Weak transcription	HMEC	breast

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