Variant report

Variant	rs2707075
Chromosome Location	chr12:122296084-122296085
allele	C/T
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	CREB1	chr12:122295050-122296094	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:122294436-122297491	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:

Variant related genes	Relation type
HPD	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10840623	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10840626	0.88[ASN][1000 genomes]
rs10840627	0.90[ASN][1000 genomes]
rs11043214	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11043222	0.96[ASN][1000 genomes]
rs11502392	0.87[ASN][1000 genomes]
rs1154510	0.99[ASN][1000 genomes]
rs1154515	0.98[ASN][1000 genomes]
rs11613865	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11614623	0.95[ASN][1000 genomes]
rs1449562	0.93[EUR][1000 genomes]
rs1795963	0.86[ASN][1000 genomes]
rs1795967	0.88[ASN][1000 genomes]
rs1947826	0.90[ASN][1000 genomes]
rs2101017	0.90[ASN][1000 genomes]
rs2230681	0.86[ASN][1000 genomes]
rs2247291	0.91[ASN][1000 genomes]
rs2309274	0.86[ASN][1000 genomes]
rs2596137	0.86[ASN][1000 genomes]
rs2596140	0.93[EUR][1000 genomes]
rs2596144	0.98[ASN][1000 genomes]
rs2620332	0.98[ASN][1000 genomes]
rs2620334	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2620339	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2688412	0.88[ASN][1000 genomes]
rs2707056	0.98[ASN][1000 genomes]
rs2707070	0.93[EUR][1000 genomes]
rs2928283	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34943778	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35384269	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4760099	0.86[ASN][1000 genomes]
rs4760102	0.90[EUR][1000 genomes]
rs4760103	0.93[EUR][1000 genomes]
rs7314056	0.88[ASN][1000 genomes]
rs895959	0.86[ASN][1000 genomes]
rs9668191	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2707075	HPD	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122292000-122296400	Weak transcription	Right Atrium	heart
3	chr12:122292200-122296400	Weak transcription	Colonic Mucosa	Colon
4	chr12:122292800-122296400	Weak transcription	Right Ventricle	heart
5	chr12:122292800-122296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122294000-122298600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122294200-122297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:122294200-122297800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:122294200-122299000	Enhancers	A549	lung
10	chr12:122294400-122296400	Weak transcription	Spleen	Spleen
11	chr12:122294600-122297800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122294800-122298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:122295200-122298600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122295400-122296200	Enhancers	Fetal Intestine Large	intestine
15	chr12:122295400-122296400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:122295400-122296400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:122295400-122296400	Weak transcription	Fetal Stomach	stomach
18	chr12:122295400-122297000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:122295400-122297400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122295400-122297400	Enhancers	Pancreas	Pancrea
21	chr12:122295400-122297800	Enhancers	Fetal Intestine Small	intestine
22	chr12:122295400-122300000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:122295400-122300400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:122295600-122296200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:122295600-122296200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:122295600-122296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:122295600-122296600	Weak transcription	NH-A	brain
28	chr12:122295600-122296800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:122295600-122298000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:122295600-122298400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:122295600-122298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:122295600-122298400	Enhancers	Adipose Nuclei	Adipose
33	chr12:122295600-122298600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:122295600-122298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:122295800-122296200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:122295800-122296200	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr12:122295800-122296600	Enhancers	Colon Smooth Muscle	Colon
38	chr12:122295800-122296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:122295800-122297000	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:122295800-122297200	Enhancers	Fetal Muscle Trunk	muscle
41	chr12:122295800-122297600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:122295800-122297600	Enhancers	Osteobl	bone
43	chr12:122295800-122299200	Weak transcription	K562	blood
44	chr12:122296000-122296600	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:122296000-122297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:122296000-122297200	Active TSS	Liver	Liver

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