Variant report

Variant	rs62135781
Chromosome Location	chr2:38013951-38013952
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	chr2:38008016..38010858-chr2:38012069..38014697,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62135625	1.00[AFR][1000 genomes]
rs62135783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv32731	chr2:37949762-38014411	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38004200-38025600	Weak transcription	Right Atrium	heart
2	chr2:38008200-38014800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:38009600-38014000	Weak transcription	Fetal Kidney	kidney
4	chr2:38010400-38017200	Weak transcription	NHDF-Ad	bronchial
5	chr2:38010600-38014000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:38010800-38015400	Weak transcription	Aorta	Aorta
7	chr2:38011400-38015000	Enhancers	HMEC	breast
8	chr2:38011800-38014200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:38012000-38014800	Genic enhancers	HSMM	muscle
10	chr2:38012200-38014600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:38012400-38014800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:38013000-38014000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:38013000-38014800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:38013000-38014800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:38013000-38014800	Enhancers	NHEK	skin
16	chr2:38013000-38015600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:38013200-38014200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:38013200-38014800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:38013400-38014000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:38013400-38014000	Weak transcription	Left Ventricle	heart
21	chr2:38013400-38014200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:38013600-38014800	Enhancers	Fetal Lung	lung
23	chr2:38013600-38015400	Weak transcription	Psoas Muscle	Psoas
24	chr2:38013800-38014200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:38013800-38014400	Enhancers	A549	lung
26	chr2:38013800-38014400	Enhancers	NH-A	brain
27	chr2:38013800-38014600	Flanking Active TSS	HSMMtube	muscle
28	chr2:38013800-38014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:38013800-38014800	Active TSS	Rectal Mucosa Donor 29	rectum

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