Variant report

Variant	rs4670547
Chromosome Location	chr2:36605417-36605418
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	POLR2A	chr2:36605041-36605812	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36602922-36605915	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:36605411-36605668	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:36602829-36605623	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:36602824-36605829	A549	lung:	n/a	n/a
6	POLR2A	chr2:36604919-36605643	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:36602709-36605505	HUVEC	blood vessel:	n/a	n/a
8	JUND	chr2:36605383-36605479	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:36605013-36606051	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr2:36605026-36605473	IMR90	lung:	n/a	n/a
11	POLR2A	chr2:36602908-36605846	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10167894	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178804	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186135	1.00[CHB][hapmap]
rs10192912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198159	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10203010	1.00[CHB][hapmap]
rs11124514	1.00[CHB][hapmap]
rs11124515	1.00[CHB][hapmap]
rs1159133	1.00[CHB][hapmap]
rs11885395	1.00[ASN][1000 genomes]
rs11898050	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465282	1.00[CHB][hapmap]
rs12465297	1.00[CHB][hapmap]
rs12477836	1.00[CHB][hapmap]
rs12712500	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394052	1.00[CHB][hapmap]
rs13407488	1.00[CHB][hapmap]
rs17480064	1.00[ASN][1000 genomes]
rs3755214	1.00[CHB][hapmap]
rs3770932	1.00[CHB][hapmap]
rs3770936	1.00[CHB][hapmap]
rs4233914	1.00[CHB][hapmap]
rs4670144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4670545	1.00[ASN][1000 genomes]
rs4670554	1.00[CHB][hapmap]
rs55653640	1.00[ASN][1000 genomes]
rs6711707	1.00[CHB][hapmap]
rs7589917	1.00[CHB][hapmap]
rs9308991	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308992	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997602	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4670547	QPCT	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:36599400-36609600	Enhancers	HMEC	breast
6	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
8	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
9	chr2:36600600-36608800	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr2:36600800-36607200	Weak transcription	Pancreas	Pancrea
11	chr2:36601200-36605600	Enhancers	NHDF-Ad	bronchial
12	chr2:36603200-36607400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:36603400-36605800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:36603400-36606200	Enhancers	Psoas Muscle	Psoas
15	chr2:36603800-36607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:36603800-36607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36603800-36612600	Weak transcription	Fetal Brain Female	brain
18	chr2:36604000-36605600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:36604000-36605600	Genic enhancers	NHLF	lung
20	chr2:36604000-36606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:36604000-36606600	Enhancers	Fetal Heart	heart
24	chr2:36604000-36614400	Genic enhancers	HUVEC	blood vessel
25	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:36604200-36605600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:36604200-36605600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:36604200-36605800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:36604200-36606400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36604200-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:36604200-36606800	Genic enhancers	HepG2	liver
32	chr2:36604200-36607200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:36604200-36607400	Weak transcription	Fetal Lung	lung
34	chr2:36604400-36605600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:36604400-36606000	Weak transcription	NH-A	brain
36	chr2:36604400-36606400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:36604400-36606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:36604400-36607000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:36604400-36607200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:36604400-36607200	Weak transcription	Fetal Stomach	stomach
41	chr2:36604400-36607200	Weak transcription	Spleen	Spleen
42	chr2:36604400-36607400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:36604400-36607600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:36604400-36608000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:36604400-36608200	Weak transcription	Esophagus	oesophagus
46	chr2:36604400-36608200	Weak transcription	Right Atrium	heart
47	chr2:36604400-36608400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:36604400-36608600	Genic enhancers	NHEK	skin
49	chr2:36604400-36609400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:36604400-36611200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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