Variant report

Variant	rs62487613
Chromosome Location	chr7:138147523-138147524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138146630..138151356-chr7:138166396..138170036,5	K562	blood:
2	chr7:138145878..138147701-chr7:138231100..138232665,2	K562	blood:

Variant related genes	Relation type
ENSG00000239123	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10155993	0.80[ASN][1000 genomes]
rs10215281	0.80[ASN][1000 genomes]
rs10258706	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1077772	0.83[ASN][1000 genomes]
rs11976614	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12112459	0.84[ASN][1000 genomes]
rs1421604	0.80[ASN][1000 genomes]
rs17461551	0.82[ASN][1000 genomes]
rs3807155	0.84[EUR][1000 genomes]
rs3807157	0.85[ASN][1000 genomes]
rs55723768	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56092804	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57407834	0.85[ASN][1000 genomes]
rs58562866	0.84[ASN][1000 genomes]
rs62487615	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62487616	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62487619	0.86[ASN][1000 genomes]
rs6467776	0.81[ASN][1000 genomes]
rs6467778	0.80[ASN][1000 genomes]
rs6970175	0.87[ASN][1000 genomes]
rs6974877	0.87[ASN][1000 genomes]
rs749546	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7795981	0.86[ASN][1000 genomes]
rs888609	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:138144200-138147600	Active TSS	Brain Germinal Matrix	brain
9	chr7:138144200-138147600	Active TSS	Fetal Brain Female	brain
10	chr7:138144200-138147800	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr7:138144200-138148000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:138144200-138148000	Active TSS	GM12878-XiMat	blood
13	chr7:138144400-138147600	Active TSS	Placenta	Placenta
14	chr7:138144400-138148000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:138146000-138147600	Bivalent/Poised TSS	HepG2	liver
16	chr7:138146000-138150600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr7:138146400-138147600	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:138146400-138148400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:138146400-138150200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
20	chr7:138146600-138147600	Enhancers	Psoas Muscle	Psoas
21	chr7:138146600-138148200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:138146600-138149400	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
23	chr7:138146800-138148200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:138146800-138148200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:138146800-138163200	Weak transcription	Aorta	Aorta
26	chr7:138147000-138147600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:138147000-138147600	Active TSS	Brain Angular Gyrus	brain
28	chr7:138147000-138147600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:138147000-138147600	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:138147000-138147600	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr7:138147000-138147600	Enhancers	Pancreas	Pancrea
32	chr7:138147000-138147600	Enhancers	Stomach Mucosa	stomach
33	chr7:138147000-138147600	Active TSS	Hela-S3	cervix
34	chr7:138147000-138147600	Active TSS	HSMM	muscle
35	chr7:138147000-138148000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:138147000-138148000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:138147000-138148000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:138147000-138148000	Weak transcription	Colonic Mucosa	Colon
39	chr7:138147000-138148000	Weak transcription	Fetal Lung	lung
40	chr7:138147000-138148000	Weak transcription	Lung	lung
41	chr7:138147000-138148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:138147000-138148400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:138147000-138148400	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr7:138147000-138148600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:138147000-138149000	Weak transcription	Primary T cells from cord blood	blood
46	chr7:138147000-138149000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:138147000-138149400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:138147000-138149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:138147000-138149600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:138147000-138149600	Weak transcription	Fetal Heart	heart

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