Variant report

Variant	rs2229716
Chromosome Location	chr12:57626582-57626583
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	chr12:57626504-57626614	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:57622967-57627887	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:57626572-57627550	K562	blood:	n/a	n/a
4	POLR2A	chr12:57622811-57628074	HepG2	liver:	n/a	n/a
5	SREBP1	chr12:57624416-57628801	HepG2	liver:	n/a	chr12:57627314-57627325
6	POLR2A	chr12:57626438-57626665	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:57624940-57628230	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr12:57625845-57626942	PFSK-1	brain:	n/a	n/a
9	ZNF263	chr12:57623482-57626590	HEK293-T-REx	kidney:	n/a	chr12:57626413-57626422 chr12:57625025-57625034
10	POLR2A	chr12:57626406-57626708	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:57626402-57626636	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57626405-57626669	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:57626394-57626803	K562	blood:	n/a	n/a
14	POLR2A	chr12:57625843-57628116	HL-60	blood:	n/a	n/a
15	POLR2A	chr12:57623308-57633262	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:57625114-57626587	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57625841..57628130-chr12:57851805..57854009,2	K562	blood:

Variant related genes	Relation type
SHMT2	TF binding region
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1800138	1.00[AFR][1000 genomes]
rs1800161	1.00[AFR][1000 genomes]
rs34100010	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57623800-57628200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57624400-57628200	Genic enhancers	Spleen	Spleen
3	chr12:57624400-57630400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:57624600-57626600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:57624600-57627800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:57624800-57626600	Genic enhancers	Pancreas	Pancrea
7	chr12:57624800-57628400	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr12:57624800-57628400	Strong transcription	Primary T cells from cord blood	blood
9	chr12:57624800-57628600	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr12:57625000-57627200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:57625000-57627400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:57625000-57627600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:57625000-57628200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:57625000-57628200	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:57625000-57628200	Strong transcription	Colon Smooth Muscle	Colon
16	chr12:57625000-57628400	Strong transcription	Fetal Lung	lung
17	chr12:57625000-57628800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:57625000-57628800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:57625000-57628800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:57625000-57629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:57625200-57626600	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr12:57625200-57626800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:57625200-57627000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:57625200-57627200	Transcr. at gene 5' and 3'	HepG2	liver
25	chr12:57625200-57627400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:57625200-57627400	Weak transcription	Stomach Mucosa	stomach
27	chr12:57625200-57627600	Strong transcription	Esophagus	oesophagus
28	chr12:57625200-57627600	Strong transcription	Thymus	Thymus
29	chr12:57625200-57628000	Genic enhancers	Primary B cells from cord blood	blood
30	chr12:57625200-57628000	Strong transcription	Brain Anterior Caudate	brain
31	chr12:57625200-57628000	Strong transcription	Brain Germinal Matrix	brain
32	chr12:57625200-57628200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:57625200-57628400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:57625200-57628600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:57625200-57628600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:57625200-57628600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:57625200-57628600	Strong transcription	Colonic Mucosa	Colon
38	chr12:57625200-57628600	Strong transcription	Fetal Intestine Large	intestine
39	chr12:57625200-57628600	Strong transcription	Fetal Intestine Small	intestine
40	chr12:57625200-57628600	Strong transcription	Fetal Stomach	stomach
41	chr12:57625200-57628800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:57625200-57628800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:57625200-57629000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:57625200-57629200	Weak transcription	Fetal Brain Male	brain
45	chr12:57625200-57629200	Weak transcription	Fetal Heart	heart
46	chr12:57625200-57629600	Weak transcription	Right Atrium	heart
47	chr12:57625200-57631400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:57625400-57626600	Weak transcription	HUVEC	blood vessel
49	chr12:57625400-57627000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:57625400-57627000	Strong transcription	A549	lung

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