Variant report

Variant	rs10496055
Chromosome Location	chr2:56115859-56115860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56110918..56113507-chr2:56115471..56117431,2	K562	blood:
2	chr2:56114693..56117341-chr2:56117578..56120415,2	K562	blood:
3	chr2:56115118..56117380-chr2:56124971..56126764,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11903784	0.81[AFR][1000 genomes]
rs1430201	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs1594308	0.81[AFR][1000 genomes]
rs17047272	0.84[AFR][1000 genomes]
rs17047277	1.00[AMR][1000 genomes]
rs17047281	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17047300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57692404	0.81[AFR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
2	chr2:56107800-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:56108400-56116000	Weak transcription	Lung	lung
4	chr2:56108800-56116200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:56109800-56120000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56110000-56117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:56110200-56116600	Enhancers	NH-A	brain
8	chr2:56110400-56116600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:56110400-56116600	Enhancers	NHLF	lung
10	chr2:56110400-56116800	Enhancers	NHDF-Ad	bronchial
11	chr2:56111200-56116000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:56112000-56116000	Genic enhancers	HUVEC	blood vessel
13	chr2:56112200-56116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:56112200-56116600	Enhancers	HMEC	breast
15	chr2:56113000-56116000	Weak transcription	Placenta	Placenta
16	chr2:56113400-56116000	Enhancers	A549	lung
17	chr2:56113600-56116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:56113800-56116000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:56114000-56116000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:56114000-56116600	Enhancers	Adipose Nuclei	Adipose
21	chr2:56114400-56116200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:56114400-56116400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:56114400-56116400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:56114400-56116600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:56114800-56116000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:56114800-56116200	Genic enhancers	NHEK	skin
27	chr2:56114800-56116600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:56115000-56116200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:56115000-56116200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:56115000-56116400	Enhancers	Ovary	ovary
31	chr2:56115000-56116400	Enhancers	Pancreas	Pancrea
32	chr2:56115000-56116400	Enhancers	Right Atrium	heart
33	chr2:56115000-56116400	Genic enhancers	HSMM	muscle
34	chr2:56115200-56116000	Enhancers	Osteobl	bone
35	chr2:56115200-56116200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:56115400-56116400	Enhancers	Brain Substantia Nigra	brain
37	chr2:56115400-56118800	Weak transcription	Fetal Lung	lung
38	chr2:56115400-56120000	Enhancers	Hela-S3	cervix
39	chr2:56115400-56125800	Weak transcription	HSMMtube	muscle
40	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:56115600-56116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:56115600-56116000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:56115600-56116000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:56115600-56116200	Enhancers	Aorta	Aorta
45	chr2:56115600-56116400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:56115600-56116400	Enhancers	Gastric	stomach
47	chr2:56115800-56116000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:56115800-56116200	Enhancers	Right Ventricle	heart
49	chr2:56115800-56116400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:56115800-56116600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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