Variant report

Variant	rs812560
Chromosome Location	chr12:120937340-120937341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120936608-120937406	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:120936217-120937982	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:120936227-120937836	K562	blood:	n/a	n/a
4	POLR2A	chr12:120936429-120937412	U87	brain:	n/a	n/a
5	POLR2A	chr12:120936014-120937712	U87	brain:	n/a	n/a
6	POLR2A	chr12:120936539-120937368	K562	blood:	n/a	n/a
7	POLR2A	chr12:120936138-120937411	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:120933282-120938110	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr12:120936270-120937438	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:120936228-120937341	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr12:120936101-120938530	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:120936674-120937376	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:120936137-120937375	U87	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120932097..120935610-chr12:120935741..120938488,5	MCF-7	breast:
2	chr12:120936621..120939116-chr12:120939943..120941715,2	MCF-7	breast:
3	chr12:120881121..120885738-chr12:120933710..120938677,7	MCF-7	breast:
4	chr12:120936251..120938670-chr12:120977737..120980679,2	K562	blood:
5	chr12:120936942..120938466-chr12:120966216..120968071,2	MCF-7	breast:
6	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
7	chr12:120936822..120939481-chr12:120942042..120944124,2	K562	blood:
8	chr12:120895908..120898400-chr12:120936308..120939235,2	K562	blood:
9	chr12:120936907..120938548-chr12:120942568..120944463,2	MCF-7	breast:
10	chr12:120932725..120938580-chr12:120938743..120942478,11	MCF-7	breast:

No data

Variant related genes	Relation type
DYNLL1-AS1	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1037611	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774550	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774557	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774558	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774559	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849756	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849760	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849762	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849764	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065144	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11065147	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065157	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065158	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065163	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065164	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151845	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151846	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1167688	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167696	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167699	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167701	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167702	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167704	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167705	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167706	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167713	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167714	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167715	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167716	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167719	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1167720	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167721	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167722	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167723	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1167724	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179460	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1179462	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1179463	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1179464	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1179465	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12227470	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12369178	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370706	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1592361	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1671762	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1671765	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1671766	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671769	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710130	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1710132	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1710142	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710143	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1710144	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1710146	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794751	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1794752	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2235223	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292680	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301456	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2673623	0.83[ASN][1000 genomes]
rs2673624	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2673625	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28390349	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3088345	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35801170	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3847971	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767898	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496370	0.82[EUR][1000 genomes]
rs526176	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs606443	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs634688	0.82[EUR][1000 genomes]
rs667913	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs671566	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs680795	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135855	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307666	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs787818	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787821	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs787822	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs787823	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs787826	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs787828	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787830	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787831	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787833	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787834	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963890	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972060	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8903	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9669663	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs812560	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs812560	RNF10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120938800	Weak transcription	Lung	lung
2	chr12:120935200-120941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120935400-120937800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:120935400-120945800	Weak transcription	Pancreas	Pancrea
7	chr12:120935600-120941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:120935800-120937600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:120935800-120938600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:120935800-120939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:120935800-120939000	Weak transcription	Small Intestine	intestine
13	chr12:120935800-120940800	Weak transcription	Ovary	ovary
14	chr12:120935800-120941200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:120935800-120941200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:120935800-120941200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:120935800-120941400	Weak transcription	Gastric	stomach
18	chr12:120935800-120947000	Weak transcription	Aorta	Aorta
19	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
20	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:120936000-120937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:120936000-120938200	Strong transcription	Fetal Thymus	thymus
23	chr12:120936000-120938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:120936000-120939200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:120936000-120939600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:120936000-120940400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:120936000-120941400	Weak transcription	Spleen	Spleen
28	chr12:120936000-120943200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:120936000-120943400	Strong transcription	Placenta	Placenta
30	chr12:120936000-120944200	Strong transcription	Left Ventricle	heart
31	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
33	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:120936200-120937400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:120936200-120937400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:120936200-120939000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:120936200-120941600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:120936400-120938600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:120936400-120939400	Strong transcription	Brain Substantia Nigra	brain
42	chr12:120936400-120940800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:120936400-120941200	Weak transcription	GM12878-XiMat	blood
44	chr12:120936400-120942000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
46	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:120936600-120937400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:120936600-120938400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:120936600-120938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links