Variant report

Variant	rs7634847
Chromosome Location	chr3:157159145-157159146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:157159033-157159380	HepG2	liver:	n/a	chr3:157159208-157159223
2	POLR2A	chr3:157154220-157161217	HUVEC	blood vessel:	n/a	n/a
3	RCOR1	chr3:157158993-157159189	K562	blood:	n/a	n/a
4	MAFK	chr3:157159034-157159386	K562	blood:	n/a	chr3:157159208-157159223
5	IRF1	chr3:157159129-157159290	K562	blood:	n/a	n/a
6	MAFK	chr3:157159072-157159281	H1-hESC	embryonic stem cell:	n/a	chr3:157159208-157159223
7	MAFK	chr3:157159030-157159392	HepG2	liver:	n/a	chr3:157159208-157159223
8	POLR2A	chr3:157159019-157159237	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr3:157159009-157159176	K562	blood:	n/a	n/a
10	MAFF	chr3:157159029-157159381	K562	blood:	n/a	chr3:157159207-157159225
11	MAFK	chr3:157159026-157159394	IMR90	lung:	n/a	chr3:157159208-157159223
12	MAFF	chr3:157159026-157159376	HepG2	liver:	n/a	chr3:157159207-157159225
13	POLR2A	chr3:157154238-157163149	HUVEC	blood vessel:	n/a	n/a
14	MAFK	chr3:157159032-157159379	Hela-S3	cervix:	n/a	chr3:157159208-157159223

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1456105	0.80[ASN][1000 genomes]
rs1456106	0.80[ASN][1000 genomes]
rs1840680	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2305619	0.82[AMR][1000 genomes]
rs2316706	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2316708	0.89[AMR][1000 genomes]
rs2316709	0.89[AMR][1000 genomes]
rs2316710	0.89[AMR][1000 genomes]
rs3816527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816528	0.80[ASN][1000 genomes]
rs4640512	0.80[ASN][1000 genomes]
rs4680364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680367	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6441128	0.80[ASN][1000 genomes]
rs6803043	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6803236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7609926	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7615621	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7616177	0.89[AMR][1000 genomes]
rs7626884	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7639254	0.80[ASN][1000 genomes]
rs9868133	0.89[AMR][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	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157154600-157160800	Transcr. at gene 5' and 3'	Osteobl	bone
2	chr3:157154600-157161000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:157155000-157159400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:157155200-157159200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:157155200-157160800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:157155200-157163400	Weak transcription	Hela-S3	cervix
7	chr3:157156200-157160200	Weak transcription	Spleen	Spleen
8	chr3:157156400-157160200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:157156400-157160200	Weak transcription	K562	blood
10	chr3:157156400-157160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:157156400-157160400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:157156400-157162600	Weak transcription	Gastric	stomach
13	chr3:157156600-157160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:157156600-157160400	Weak transcription	Pancreas	Pancrea
15	chr3:157156600-157160600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:157156800-157160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:157156800-157160200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:157156800-157160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:157156800-157161800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:157157000-157160200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:157157000-157161800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:157157200-157160600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:157157200-157163400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:157157400-157160200	Weak transcription	Fetal Stomach	stomach
25	chr3:157157400-157160800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:157157400-157162400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:157157600-157160200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:157157600-157160200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:157157800-157159800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
30	chr3:157157800-157160200	Weak transcription	Fetal Lung	lung
31	chr3:157157800-157162000	Weak transcription	HSMMtube	muscle
32	chr3:157158000-157159200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:157158000-157159800	Strong transcription	HSMM	muscle
34	chr3:157158200-157159200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
35	chr3:157158200-157160600	Transcr. at gene 5' and 3'	NHLF	lung
36	chr3:157158200-157161600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:157158200-157164000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:157158400-157161000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr3:157158600-157159200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:157158600-157159200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:157158600-157161200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
42	chr3:157158800-157159200	Enhancers	Fetal Brain Female	brain
43	chr3:157158800-157159200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:157159000-157159800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:157159000-157160000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:157159000-157177400	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links