Variant report

Variant	rs4670546
Chromosome Location	chr2:36605304-36605305
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	chr2:36602829-36605623	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:36602824-36605829	A549	lung:	n/a	n/a
5	POLR2A	chr2:36603263-36605324	SK-N-SH	brain:	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	POLR2A	chr2:36605013-36606051	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:36605026-36605473	IMR90	lung:	n/a	n/a
10	POLR2A	chr2:36602908-36605846	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10195305	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10195419	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2287084	0.83[ASN][1000 genomes]
rs3755221	1.00[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3821165	0.88[CEU][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs6544008	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7604086	0.84[JPT][hapmap]

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
rs4670546	SULT6B1	cis	cerebellum	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	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:36599400-36609600	Enhancers	HMEC	breast
7	chr2:36599800-36605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
10	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
11	chr2:36600600-36608800	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr2:36600800-36607200	Weak transcription	Pancreas	Pancrea
13	chr2:36601000-36605400	Weak transcription	Aorta	Aorta
14	chr2:36601200-36605600	Enhancers	NHDF-Ad	bronchial
15	chr2:36602600-36605400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:36603200-36605400	Enhancers	Small Intestine	intestine
17	chr2:36603200-36605400	Transcr. at gene 5' and 3'	A549	lung
18	chr2:36603200-36607400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:36603400-36605800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:36603400-36606200	Enhancers	Psoas Muscle	Psoas
21	chr2:36603800-36607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:36603800-36607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:36603800-36612600	Weak transcription	Fetal Brain Female	brain
24	chr2:36604000-36605600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:36604000-36605600	Genic enhancers	NHLF	lung
26	chr2:36604000-36606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:36604000-36606600	Enhancers	Fetal Heart	heart
30	chr2:36604000-36614400	Genic enhancers	HUVEC	blood vessel
31	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:36604200-36605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:36604200-36605600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:36604200-36605600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:36604200-36605800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:36604200-36606400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:36604200-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:36604200-36606800	Genic enhancers	HepG2	liver
39	chr2:36604200-36607200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:36604200-36607400	Weak transcription	Fetal Lung	lung
41	chr2:36604400-36605600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:36604400-36606000	Weak transcription	NH-A	brain
43	chr2:36604400-36606400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:36604400-36606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:36604400-36607000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:36604400-36607200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:36604400-36607200	Weak transcription	Fetal Stomach	stomach
48	chr2:36604400-36607200	Weak transcription	Spleen	Spleen
49	chr2:36604400-36607400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:36604400-36607600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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