Variant report

Variant	rs62119392
Chromosome Location	chr2:9714033-9714034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9713260..9716233-chr2:9769016..9771805,2	K562	blood:
2	chr2:9713407..9715979-chr2:9716720..9720102,3	K562	blood:
3	chr2:9713407..9715894-chr2:9718602..9720174,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495571	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17362902	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17453675	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17453724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56372340	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57234614	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119429	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119431	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119432	0.89[AMR][1000 genomes];0.95[EUR][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:9696800-9767600	Weak transcription	Gastric	stomach
3	chr2:9697000-9720000	Weak transcription	Fetal Stomach	stomach
4	chr2:9697200-9719800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:9697200-9723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:9697400-9714200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:9697400-9725000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:9697400-9729800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:9697800-9723600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:9698000-9720000	Weak transcription	Fetal Brain Female	brain
11	chr2:9699600-9725600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:9701000-9720400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:9704600-9719000	Weak transcription	Liver	Liver
14	chr2:9705400-9723600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:9705400-9723600	Weak transcription	Colonic Mucosa	Colon
16	chr2:9706000-9714200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:9706000-9722800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:9706000-9722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
20	chr2:9706200-9720200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:9706200-9722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:9706200-9727800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:9706200-9728000	Weak transcription	Psoas Muscle	Psoas
24	chr2:9706400-9720200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:9706400-9723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:9706400-9725000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:9710800-9723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:9711000-9719000	Weak transcription	Right Atrium	heart
30	chr2:9712800-9714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:9712800-9715000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:9712800-9715000	Enhancers	Osteobl	bone
33	chr2:9713000-9714200	Enhancers	Left Ventricle	heart
34	chr2:9713000-9714400	Enhancers	HMEC	breast
35	chr2:9713000-9715000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:9713200-9714200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:9713200-9714800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:9713200-9715000	Enhancers	NHDF-Ad	bronchial
39	chr2:9713200-9716000	Enhancers	Fetal Heart	heart
40	chr2:9713400-9714200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:9713400-9723400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:9713600-9714200	Enhancers	Adipose Nuclei	Adipose
43	chr2:9713600-9714200	Weak transcription	A549	lung
44	chr2:9713600-9714800	Enhancers	Fetal Intestine Small	intestine
45	chr2:9713600-9715000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:9713600-9715000	Enhancers	GM12878-XiMat	blood
47	chr2:9713600-9722800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:9713600-9723000	Weak transcription	HSMMtube	muscle
49	chr2:9713800-9714600	Enhancers	Fetal Intestine Large	intestine
50	chr2:9713800-9715000	Enhancers	HUVEC	blood vessel

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