Variant report

Variant	rs56337010
Chromosome Location	chr2:39751575-39751576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39750470..39752970-chr2:39756347..39759099,3	K562	blood:
2	chr2:39751067..39752674-chr2:39760072..39761587,2	MCF-7	breast:
3	chr2:39742944..39745586-chr2:39749243..39752053,2	K562	blood:
4	chr2:39749162..39751923-chr2:39751985..39754949,2	MCF-7	breast:
5	chr2:39750470..39752970-chr2:39756347..39759099,2	K562	blood:
6	chr2:39742413..39744444-chr2:39749580..39752053,2	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10191970	0.91[ASN][1000 genomes]
rs11124686	0.89[EUR][1000 genomes]
rs11896239	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13027520	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13391377	0.87[ASN][1000 genomes]
rs1526024	0.88[EUR][1000 genomes]
rs35377016	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4670282	0.80[ASN][1000 genomes]
rs6741839	0.89[EUR][1000 genomes]
rs6753798	0.90[EUR][1000 genomes]
rs72803112	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72803115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs734663	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594967	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39744200-39753200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:39745000-39752000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas
4	chr2:39748600-39753400	Enhancers	Left Ventricle	heart
5	chr2:39748800-39753000	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:39749000-39752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:39749400-39757200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:39749400-39758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:39749600-39753400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:39749800-39752600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:39749800-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:39749800-39753000	Enhancers	HSMM	muscle
14	chr2:39749800-39753400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:39750000-39752000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:39750000-39752400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:39750000-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:39750000-39752600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:39750000-39752600	Enhancers	Hela-S3	cervix
20	chr2:39750000-39752600	Enhancers	NHLF	lung
21	chr2:39750000-39752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:39750200-39751800	Enhancers	HUVEC	blood vessel
24	chr2:39750200-39752600	Enhancers	NHDF-Ad	bronchial
25	chr2:39750200-39752800	Enhancers	NH-A	brain
26	chr2:39750200-39753400	Enhancers	Adipose Nuclei	Adipose
27	chr2:39750200-39753400	Enhancers	Fetal Heart	heart
28	chr2:39750400-39752600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:39750400-39752600	Enhancers	Aorta	Aorta
30	chr2:39750400-39753200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:39750400-39753400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:39750600-39753000	Enhancers	Placenta	Placenta
33	chr2:39750600-39753400	Enhancers	Right Atrium	heart
34	chr2:39750600-39754400	Enhancers	HepG2	liver
35	chr2:39750800-39751600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:39750800-39760200	Weak transcription	Gastric	stomach
37	chr2:39751000-39751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:39751000-39751600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:39751000-39751600	Flanking Active TSS	HSMMtube	muscle
40	chr2:39751200-39752400	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:39751200-39752600	Enhancers	Fetal Stomach	stomach
42	chr2:39751200-39753000	Enhancers	Liver	Liver
43	chr2:39751200-39760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:39751400-39751600	Enhancers	K562	blood
45	chr2:39751400-39751800	Weak transcription	Right Ventricle	heart
46	chr2:39751400-39752400	Weak transcription	Pancreas	Pancrea
47	chr2:39751400-39752400	Weak transcription	Stomach Mucosa	stomach
48	chr2:39751400-39752600	Enhancers	HMEC	breast
49	chr2:39751400-39752600	Enhancers	NHEK	skin
50	chr2:39751400-39752600	Enhancers	Osteobl	bone

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