Variant report

Variant	rs62170074
Chromosome Location	chr2:114520292-114520293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114512582..114515674-chr2:114516372..114520568,3	MCF-7	breast:
2	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
3	chr2:114496162..114498041-chr2:114518174..114520618,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17632109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17683255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62170065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515200-114520400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:114515200-114520400	Weak transcription	Left Ventricle	heart
3	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:114517400-114521000	Enhancers	NHDF-Ad	bronchial
5	chr2:114517600-114520400	Enhancers	HSMMtube	muscle
6	chr2:114517600-114521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:114517800-114520800	Enhancers	HSMM	muscle
8	chr2:114517800-114520800	Enhancers	HUVEC	blood vessel
9	chr2:114517800-114520800	Enhancers	NHLF	lung
10	chr2:114517800-114521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114518000-114520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:114519200-114520400	Weak transcription	Psoas Muscle	Psoas
13	chr2:114519200-114520800	Enhancers	NH-A	brain
14	chr2:114519400-114520400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:114519400-114520400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:114519400-114520600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:114519600-114520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:114519600-114520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:114519600-114521000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:114519800-114520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:114519800-114520400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:114519800-114520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:114519800-114520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:114519800-114520600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:114519800-114520600	Flanking Active TSS	Osteobl	bone
26	chr2:114519800-114520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:114520000-114520400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:114520000-114520600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:114520200-114520400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:114520200-114520600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:114520200-114520600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:114520200-114520600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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