Variant report

Variant	rs62177986
Chromosome Location	chr2:62705544-62705545
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	chr2:62704342..62706452-chr2:62754293..62757210,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34088150	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62696600-62705800	Enhancers	Fetal Stomach	stomach
2	chr2:62699400-62705800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:62699600-62705800	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:62700400-62705600	Enhancers	Placenta	Placenta
5	chr2:62700800-62705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:62700800-62705800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:62702200-62705600	Enhancers	Lung	lung
8	chr2:62702600-62705800	Enhancers	Fetal Intestine Large	intestine
9	chr2:62702800-62705600	Enhancers	Right Ventricle	heart
10	chr2:62702800-62705800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:62703000-62712400	Weak transcription	A549	lung
12	chr2:62703200-62705600	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:62703200-62706200	Enhancers	HUVEC	blood vessel
14	chr2:62703400-62705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:62703400-62705800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:62703400-62707000	Enhancers	Adipose Nuclei	Adipose
17	chr2:62703600-62705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:62703600-62705800	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:62703600-62706200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:62703600-62706400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:62703600-62711600	Weak transcription	Liver	Liver
22	chr2:62703600-62724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:62703800-62705600	Enhancers	Colon Smooth Muscle	Colon
24	chr2:62704200-62706400	Enhancers	HepG2	liver
25	chr2:62704400-62705800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:62704600-62705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:62704600-62705600	Enhancers	Fetal Heart	heart
28	chr2:62704600-62705800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:62704600-62705800	Enhancers	Colonic Mucosa	Colon
30	chr2:62704600-62705800	Enhancers	Esophagus	oesophagus
31	chr2:62704600-62705800	Enhancers	Fetal Intestine Small	intestine
32	chr2:62704600-62705800	Enhancers	Left Ventricle	heart
33	chr2:62704600-62705800	Enhancers	Ovary	ovary
34	chr2:62704600-62705800	Enhancers	Right Atrium	heart
35	chr2:62704600-62705800	Enhancers	NHEK	skin
36	chr2:62704800-62705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:62704800-62705600	Enhancers	Fetal Lung	lung
38	chr2:62704800-62705800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:62704800-62705800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:62704800-62705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:62704800-62705800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:62704800-62705800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:62704800-62705800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:62704800-62705800	Enhancers	Spleen	Spleen
45	chr2:62704800-62705800	Enhancers	HSMMtube	muscle
46	chr2:62705000-62705800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:62705000-62705800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:62705000-62705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:62705000-62705800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:62705000-62705800	Enhancers	Primary monocytes fromperipheralblood	blood

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