Variant report

Variant	rs7731443
Chromosome Location	chr5:14337891-14337892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14333298..14335289-chr5:14337872..14339600,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10866506	0.81[EUR][1000 genomes]
rs10866507	0.81[EUR][1000 genomes]
rs11133785	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949756	0.82[CEU][hapmap]
rs11950000	0.82[CEU][hapmap]
rs11959397	0.85[EUR][1000 genomes]
rs12109756	0.82[CEU][hapmap]
rs12109880	0.85[EUR][1000 genomes]
rs12110161	0.82[CEU][hapmap]
rs12110267	0.85[EUR][1000 genomes]
rs16903375	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16903389	0.87[EUR][1000 genomes]
rs16903421	0.82[CEU][hapmap];0.92[GIH][hapmap];0.85[EUR][1000 genomes]
rs16903423	0.85[EUR][1000 genomes]
rs16903428	0.85[EUR][1000 genomes]
rs16903434	0.81[EUR][1000 genomes]
rs16903453	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs16903460	0.82[CEU][hapmap]
rs16903464	0.82[CEU][hapmap]
rs1697168	0.83[EUR][1000 genomes]
rs2463803	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs57017859	0.85[EUR][1000 genomes]
rs58383010	0.87[EUR][1000 genomes]
rs59405120	0.81[EUR][1000 genomes]
rs60738268	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60768136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892841	0.85[EUR][1000 genomes]
rs61059406	0.85[EUR][1000 genomes]
rs61469842	0.81[EUR][1000 genomes]
rs62344973	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62344976	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344979	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62344981	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62344983	0.85[EUR][1000 genomes]
rs62345009	0.81[EUR][1000 genomes]
rs62345012	0.81[EUR][1000 genomes]
rs62346588	0.83[EUR][1000 genomes]
rs62346590	0.87[EUR][1000 genomes]
rs66554336	0.85[EUR][1000 genomes]
rs6879505	0.87[EUR][1000 genomes]
rs6887831	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs697558	0.83[EUR][1000 genomes]
rs697559	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs7706484	0.81[EUR][1000 genomes]
rs7710935	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732548	0.83[EUR][1000 genomes]
rs773764	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs773765	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs773766	1.00[CEU][hapmap];0.83[EUR][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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7731443	ZNF185	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
5	chr5:14314600-14338200	Strong transcription	HSMM	muscle
6	chr5:14314800-14342200	Strong transcription	Osteobl	bone
7	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
13	chr5:14328000-14338800	Strong transcription	NHLF	lung
14	chr5:14328000-14339200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:14328000-14344400	Strong transcription	HMEC	breast
16	chr5:14328200-14338800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:14328400-14338200	Strong transcription	NH-A	brain
19	chr5:14329800-14340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:14330000-14339600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:14330400-14338600	Strong transcription	HUVEC	blood vessel
22	chr5:14330400-14340000	Strong transcription	Liver	Liver
23	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:14330800-14339800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:14330800-14340000	Strong transcription	HepG2	liver
27	chr5:14330800-14341600	Strong transcription	Placenta	Placenta
28	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
29	chr5:14331000-14340200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:14331000-14341800	Strong transcription	Fetal Intestine Large	intestine
31	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:14331600-14341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:14331600-14342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:14332200-14341800	Strong transcription	GM12878-XiMat	blood
36	chr5:14332400-14338200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14332400-14340000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:14332600-14344400	Strong transcription	NHEK	skin
39	chr5:14332800-14338200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:14332800-14338200	Strong transcription	Hela-S3	cervix
41	chr5:14332800-14339800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:14332800-14340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:14332800-14340000	Strong transcription	Fetal Stomach	stomach
44	chr5:14333000-14338800	Strong transcription	Esophagus	oesophagus
45	chr5:14333000-14340000	Strong transcription	Fetal Intestine Small	intestine
46	chr5:14333000-14343400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:14333200-14341000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:14333400-14340000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:14333400-14340800	Strong transcription	Primary B cells from cord blood	blood
50	chr5:14333600-14341400	Weak transcription	Brain Substantia Nigra	brain

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