Variant report

Variant	rs62135783
Chromosome Location	chr2:38024018-38024019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38019008..38021891-chr2:38022499..38024638,3	MCF-7	breast:
2	chr2:38000546..38002739-chr2:38022244..38024636,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62135625	1.00[AFR][1000 genomes]
rs62135781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833836	chr2:37966343-38114077	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38004200-38025600	Weak transcription	Right Atrium	heart
2	chr2:38019400-38026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:38019400-38028200	Enhancers	HSMMtube	muscle
4	chr2:38019800-38025400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:38019800-38025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:38020600-38024400	Enhancers	NHLF	lung
7	chr2:38021000-38025800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:38021000-38026000	Enhancers	NHDF-Ad	bronchial
9	chr2:38021400-38024600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:38021400-38024800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:38021600-38024200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:38021600-38025400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:38021800-38024800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:38022000-38026400	Enhancers	Osteobl	bone
15	chr2:38022200-38024400	Enhancers	NH-A	brain
16	chr2:38022200-38024600	Enhancers	HMEC	breast
17	chr2:38022200-38024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:38022400-38024600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:38022400-38024600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:38022400-38025600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:38022600-38024400	Enhancers	NHEK	skin
22	chr2:38022600-38026400	Enhancers	HSMM	muscle
23	chr2:38022800-38024200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:38023000-38024400	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:38023200-38024400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:38023200-38024400	Enhancers	Fetal Stomach	stomach
27	chr2:38023400-38024200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:38023400-38024200	Flanking Active TSS	Hela-S3	cervix
29	chr2:38023400-38025600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:38023400-38029200	Weak transcription	Aorta	Aorta
31	chr2:38023600-38024600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:38023600-38025200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:38023600-38025400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:38023600-38025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:38023600-38025600	Weak transcription	Psoas Muscle	Psoas
36	chr2:38023600-38026400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:38023600-38026600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:38023800-38024200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:38023800-38025400	Weak transcription	Placenta	Placenta
40	chr2:38023800-38027000	Weak transcription	A549	lung
41	chr2:38023800-38028600	Weak transcription	Gastric	stomach
42	chr2:38023800-38029400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:38023800-38029800	Weak transcription	Fetal Heart	heart
44	chr2:38024000-38024200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:38024000-38024200	Enhancers	Fetal Kidney	kidney
46	chr2:38024000-38025200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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