Variant report

Variant	rs2056656
Chromosome Location	chr2:39759564-39759565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39742330..39745298-chr2:39759462..39761280,2	MCF-7	breast:
2	chr2:39757987..39759726-chr2:39760387..39763403,3	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1023591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1526026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1547971	0.95[AFR][1000 genomes]
rs4569458	1.00[AMR][1000 genomes]
rs7573067	0.91[AFR][1000 genomes];1.00[AMR][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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:39750800-39760200	Weak transcription	Gastric	stomach
4	chr2:39751200-39760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39751400-39760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:39752600-39760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39752600-39760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:39753200-39760200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:39753400-39761000	Weak transcription	HSMMtube	muscle
10	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
11	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
12	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
13	chr2:39757200-39761800	Weak transcription	Aorta	Aorta
14	chr2:39757800-39761400	Weak transcription	NH-A	brain
15	chr2:39758000-39760800	Weak transcription	NHEK	skin
16	chr2:39758000-39761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:39758000-39761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:39758200-39761800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:39758200-39767400	Weak transcription	Fetal Kidney	kidney
20	chr2:39758400-39760400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:39758400-39760400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:39758400-39760400	Weak transcription	HSMM	muscle
23	chr2:39758400-39760800	Weak transcription	Fetal Heart	heart
24	chr2:39758400-39761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:39758400-39761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:39758400-39761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:39758600-39760800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:39758600-39761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:39758600-39761200	Weak transcription	NHDF-Ad	bronchial
30	chr2:39758600-39761400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:39758600-39761400	Weak transcription	NHLF	lung
32	chr2:39758600-39761400	Weak transcription	Osteobl	bone
33	chr2:39758600-39766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:39758600-39767000	Weak transcription	Lung	lung
35	chr2:39758800-39760200	Weak transcription	Left Ventricle	heart
36	chr2:39759200-39760200	Weak transcription	Placenta	Placenta
37	chr2:39759400-39764200	Enhancers	HepG2	liver

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