Variant report

Variant	rs1731667
Chromosome Location	chr12:63318214-63318215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63307556..63310416-chr12:63316957..63319836,2	MCF-7	breast:
2	chr12:63311089..63313901-chr12:63317542..63319982,2	K562	blood:
3	chr12:63311594..63314180-chr12:63316529..63319500,2	MCF-7	breast:
4	chr12:63314546..63316947-chr12:63317010..63319516,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10506468	0.91[ASN][1000 genomes]
rs13377803	0.87[ASN][1000 genomes]
rs13378081	0.87[ASN][1000 genomes]
rs2019497	0.91[ASN][1000 genomes]
rs36183582	0.90[ASN][1000 genomes]
rs58389317	0.94[ASN][1000 genomes]
rs58869921	0.97[ASN][1000 genomes]
rs699587	0.97[ASN][1000 genomes]
rs7977184	0.86[ASN][1000 genomes]
rs7977300	0.87[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63309600-63323400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63312000-63325000	Weak transcription	K562	blood
3	chr12:63313400-63322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:63313600-63326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:63313800-63327000	Weak transcription	Left Ventricle	heart
6	chr12:63314000-63324800	Weak transcription	Hela-S3	cervix
7	chr12:63314000-63326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63314000-63327000	Weak transcription	Gastric	stomach
9	chr12:63314200-63322200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:63314200-63327000	Weak transcription	Aorta	Aorta
11	chr12:63315200-63318600	Enhancers	Brain Hippocampus Middle	brain
12	chr12:63315400-63318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:63315800-63318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:63316600-63322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:63316800-63318400	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:63316800-63318600	Enhancers	Brain Substantia Nigra	brain
17	chr12:63316800-63319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:63316800-63321800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:63316800-63322200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:63316800-63324400	Weak transcription	Osteobl	bone
21	chr12:63317000-63318600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:63317000-63319400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:63317000-63321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:63317000-63322000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:63317000-63322000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:63317000-63322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:63317000-63322400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:63317000-63324600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:63317000-63325200	Weak transcription	Fetal Intestine Large	intestine
30	chr12:63317600-63318600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:63317600-63323200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:63317600-63324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:63318000-63318400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:63318200-63318400	Genic enhancers	HepG2	liver
35	chr12:63318200-63322200	Weak transcription	Brain Anterior Caudate	brain

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