Variant report

Variant	rs7764070
Chromosome Location	chr6:27430372-27430373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27386703..27389483-chr6:27429188..27431655,2	K562	blood:
2	chr6:27387983..27390252-chr6:27430155..27433045,2	K562	blood:
3	chr6:27429105..27431185-chr6:27434916..27437111,2	K562	blood:
4	chr6:27414915..27419456-chr6:27425103..27430538,5	MCF-7	breast:
5	chr6:27427630..27430892-chr6:27435526..27437127,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1014227	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452601	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10484396	0.83[ASN][1000 genomes]
rs10484397	0.86[ASN][1000 genomes]
rs10484398	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10807023	0.86[ASN][1000 genomes]
rs10807024	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10807025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946916	0.86[EUR][1000 genomes]
rs10946919	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10946920	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10946921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946931	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946932	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946933	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11970336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197858	0.86[ASN][1000 genomes]
rs12199110	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12200018	0.86[ASN][1000 genomes]
rs12205189	0.82[ASN][1000 genomes]
rs12206045	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212288	0.82[ASN][1000 genomes]
rs12212293	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12213598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215117	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524409	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525544	0.82[ASN][1000 genomes]
rs12528904	0.82[ASN][1000 genomes]
rs12529839	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12529840	0.83[ASN][1000 genomes]
rs13201443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201985	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13207099	0.82[ASN][1000 genomes]
rs13212050	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215560	0.92[ASN][1000 genomes]
rs13217162	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217248	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217798	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13220155	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569566	0.86[ASN][1000 genomes]
rs1883216	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2049944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049945	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092120	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2092121	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2092122	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2103557	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142705	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205831	0.83[ASN][1000 genomes]
rs2206253	0.83[ASN][1000 genomes]
rs2206254	0.86[ASN][1000 genomes]
rs2235252	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2235254	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2272814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272815	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294308	0.92[ASN][1000 genomes]
rs2294309	0.91[ASN][1000 genomes]
rs2893916	0.83[ASN][1000 genomes]
rs2893917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34185469	0.82[ASN][1000 genomes]
rs35394453	0.99[ASN][1000 genomes]
rs4478400	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711151	0.81[ASN][1000 genomes]
rs4711153	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713101	0.82[ASN][1000 genomes]
rs4713104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713105	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4713106	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713107	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713109	0.92[ASN][1000 genomes]
rs55705181	0.84[ASN][1000 genomes]
rs57647048	0.86[ASN][1000 genomes]
rs62401365	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456784	0.82[ASN][1000 genomes]
rs6456785	0.82[ASN][1000 genomes]
rs6456786	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6456788	0.92[ASN][1000 genomes]
rs6456789	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6456791	0.85[ASN][1000 genomes]
rs6650992	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6899780	0.86[ASN][1000 genomes]
rs6899950	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6903282	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6904844	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6908086	0.86[ASN][1000 genomes]
rs6911865	0.92[ASN][1000 genomes]
rs6914542	0.86[ASN][1000 genomes]
rs6914585	0.86[ASN][1000 genomes]
rs6918131	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6918794	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6920010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920733	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921071	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926142	0.83[ASN][1000 genomes]
rs6928314	0.82[ASN][1000 genomes]
rs6929812	0.82[ASN][1000 genomes]
rs6931659	0.88[ASN][1000 genomes]
rs6933354	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938689	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs726830	0.94[ASN][1000 genomes]
rs7509	0.98[ASN][1000 genomes]
rs760880	0.86[ASN][1000 genomes]
rs764460	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs764461	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7741031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743443	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7743465	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7744110	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7745380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747283	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7747444	0.83[ASN][1000 genomes]
rs7748366	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7750795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754086	0.82[ASN][1000 genomes]
rs7754678	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7754724	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7754977	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7756216	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756377	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7764634	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7771590	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7771598	0.82[ASN][1000 genomes]
rs7772160	0.96[ASN][1000 genomes]
rs7774613	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776338	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9468134	0.89[AFR][1000 genomes]
rs9468140	0.92[ASN][1000 genomes]
rs9468141	0.92[ASN][1000 genomes]
rs979352	0.86[ASN][1000 genomes]
rs979353	0.86[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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
3	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7764070	ZNF391	cis	Nerve Tibial	GTEx
rs7764070	ZNF391	cis	Esophagus Muscularis	GTEx
rs7764070	ZNF391	cis	Artery Tibial	GTEx
rs7764070	BRP44	trans	lymphoblastoid	RTeQTL
rs7764070	ZNF391	cis	Esophagus Mucosa	GTEx
rs7764070	ZNF391	cis	Heart Left Ventricle	GTEx
rs7764070	ZNF391	cis	lung	GTEx
rs7764070	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27412600-27438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27414200-27430600	ZNF genes & repeats	Liver	Liver
3	chr6:27414400-27432000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr6:27415400-27438600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:27415800-27434000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr6:27416000-27432400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:27416200-27432600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:27416800-27430600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
9	chr6:27417200-27432600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:27422800-27430400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:27424000-27439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:27425000-27438800	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:27425200-27433800	Weak transcription	Psoas Muscle	Psoas
14	chr6:27425200-27435000	Weak transcription	Right Ventricle	heart
15	chr6:27425400-27435200	Weak transcription	Brain Substantia Nigra	brain
16	chr6:27425400-27438400	Weak transcription	Fetal Brain Male	brain
17	chr6:27425600-27439400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:27426400-27430600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr6:27426400-27430800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:27426400-27438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr6:27426600-27438200	Strong transcription	Fetal Thymus	thymus
22	chr6:27427200-27430600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:27427600-27430400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:27427600-27430600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:27427600-27430600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr6:27427600-27430800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr6:27427800-27440000	Weak transcription	Esophagus	oesophagus
28	chr6:27428200-27433600	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr6:27428400-27430600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:27428400-27430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:27428400-27430800	ZNF genes & repeats	Fetal Lung	lung
32	chr6:27428400-27434800	Weak transcription	HUVEC	blood vessel
33	chr6:27428400-27438800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:27428800-27430600	Strong transcription	Fetal Stomach	stomach
35	chr6:27428800-27434800	Weak transcription	Gastric	stomach
36	chr6:27428800-27437800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:27428800-27439800	Weak transcription	Pancreas	Pancrea
38	chr6:27429000-27431600	Weak transcription	Left Ventricle	heart
39	chr6:27429000-27433400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:27429000-27433600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:27429000-27433800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:27429000-27433800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:27429000-27434600	Weak transcription	NHEK	skin
44	chr6:27429000-27435000	Weak transcription	Aorta	Aorta
45	chr6:27429000-27435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:27429200-27431800	Weak transcription	HSMM	muscle
47	chr6:27429200-27433400	Weak transcription	Placenta	Placenta
48	chr6:27429200-27435000	Strong transcription	Thymus	Thymus
49	chr6:27429200-27437400	Weak transcription	Small Intestine	intestine
50	chr6:27429400-27431800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links