Variant report

Variant	rs7314872
Chromosome Location	chr12:58004563-58004564
allele	C/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	E2F6	chr12:58004234-58005187	H1-hESC	embryonic stem cell:	n/a	chr12:58004752-58004762 chr12:58005116-58005128
2	POLR2A	chr12:58004389-58004606	HepG2	liver:	n/a	n/a
3	CHD2	chr12:58004509-58005234	K562	blood:	n/a	n/a
4	MXI1	chr12:58004136-58006760	SK-N-SH	brain:	n/a	n/a
5	SIN3A	chr12:58002857-58005570	H1-hESC	embryonic stem cell:	n/a	chr12:58004864-58004877
6	MXI1	chr12:58004266-58005659	IMR90	lung:	n/a	n/a
7	MAZ	chr12:58004400-58006081	IMR90	lung:	n/a	chr12:58005549-58005559 chr12:58005577-58005587 chr12:58005016-58005026 chr12:58005375-58005385
8	POLR2A	chr12:58004419-58005727	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57912257..57915408-chr12:58000825..58006358,4	K562	blood:
2	chr12:57930705..57935401-chr12:58001977..58005950,4	K562	blood:
3	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
4	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
5	chr12:57939583..57941703-chr12:58002111..58004794,2	K562	blood:
6	chr12:58004396..58008788-chr12:58163385..58167140,4	MCF-7	breast:
7	chr12:58003234..58004876-chr12:58145695..58148256,2	K562	blood:
8	chr12:57634341..57637032-chr12:58003121..58004920,2	K562	blood:
9	chr12:58003448..58005159-chr12:58329612..58331307,2	K562	blood:

Variant related genes	Relation type
ARHGEF25	TF binding region
ENSG00000135446	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11172262	0.89[EUR][1000 genomes]
rs1806652	0.89[EUR][1000 genomes]
rs34181394	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60586224	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71461330	0.81[EUR][1000 genomes]
rs7305391	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964896	0.85[EUR][1000 genomes]
rs812315	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57999400-58004800	Weak transcription	Gastric	stomach
2	chr12:57999600-58004600	Weak transcription	GM12878-XiMat	blood
3	chr12:57999800-58004600	Weak transcription	A549	lung
4	chr12:57999800-58004800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:57999800-58004800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:58001600-58004600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:58002800-58004800	Enhancers	K562	blood
8	chr12:58003000-58005800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:58003200-58004600	Weak transcription	Spleen	Spleen
10	chr12:58003200-58004800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr12:58003200-58005000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr12:58003200-58005800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:58003200-58005800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:58003400-58005800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr12:58003400-58006000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:58003400-58006000	Active TSS	Fetal Kidney	kidney
17	chr12:58003600-58004600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:58003600-58006000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:58003600-58006000	Active TSS	Colon Smooth Muscle	Colon
20	chr12:58003600-58006000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr12:58003600-58006000	Active TSS	Ovary	ovary
22	chr12:58003800-58004600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:58003800-58004800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:58003800-58005200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:58003800-58005200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr12:58003800-58005400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr12:58003800-58005800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:58003800-58005800	Active TSS	Aorta	Aorta
29	chr12:58003800-58005800	Enhancers	Fetal Brain Male	brain
30	chr12:58003800-58005800	Active TSS	Right Atrium	heart
31	chr12:58003800-58006000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:58003800-58006400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:58003800-58006400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:58004000-58004600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr12:58004000-58004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:58004000-58004600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:58004000-58004600	Flanking Active TSS	Fetal Heart	heart
38	chr12:58004000-58004600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr12:58004000-58004800	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr12:58004000-58004800	Bivalent Enhancer	Placenta	Placenta
41	chr12:58004000-58005000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr12:58004000-58005000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr12:58004000-58006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:58004200-58004600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:58004200-58004600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:58004200-58004600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:58004200-58004600	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr12:58004200-58004600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:58004200-58004600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr12:58004200-58004600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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