Variant report

Variant	rs1151827
Chromosome Location	chr12:120681214-120681215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120681213-120681861	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:120680704-120682022	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
5	chr12:120678787..120681833-chr12:120700591..120705170,4	K562	blood:
6	chr12:120636299..120641088-chr12:120677088..120682968,7	K562	blood:

No data

Variant related genes	Relation type
RPS20P31	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10744748	0.81[CHB][hapmap]
rs10849739	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065035	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11065036	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11065061	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065064	0.96[EUR][1000 genomes]
rs1151824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1151830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151832	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151837	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182860	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11831552	0.98[EUR][1000 genomes]
rs1183781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12164847	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12305146	0.95[EUR][1000 genomes]
rs12308431	0.85[EUR][1000 genomes]
rs12310433	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12312562	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12321884	0.92[ASN][1000 genomes]
rs12581983	0.87[ASN][1000 genomes]
rs1634814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1634815	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2006194	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2074540	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2238155	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2238156	0.98[EUR][1000 genomes]
rs2238157	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2239208	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2240312	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs2240317	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2240318	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2240321	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2240322	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2240323	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2240325	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs2269941	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2269944	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2269945	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2283362	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2283364	0.83[CEU][hapmap];0.85[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs2283365	0.99[EUR][1000 genomes]
rs2286049	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2286050	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2286051	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2524391	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742039	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs3759397	0.98[EUR][1000 genomes]
rs3888586	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs3888587	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3888588	0.99[EUR][1000 genomes]
rs3890165	0.98[EUR][1000 genomes]
rs3956833	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs4767886	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs61198412	0.98[EUR][1000 genomes]
rs7134706	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7296380	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7300273	0.98[EUR][1000 genomes]
rs739809	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7953949	0.98[EUR][1000 genomes]
rs7966099	1.00[CEU][hapmap];0.98[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 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	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
4	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:120671800-120682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:120673800-120682800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120674200-120682800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
10	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr12:120675400-120682000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:120675800-120682000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
14	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:120676400-120682600	Weak transcription	Ovary	ovary
16	chr12:120676400-120685000	Genic enhancers	NHEK	skin
17	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
19	chr12:120676600-120682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:120676800-120682000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:120676800-120682600	Weak transcription	NH-A	brain
22	chr12:120676800-120682800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
24	chr12:120677000-120681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:120677000-120681800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:120677000-120682000	Genic enhancers	HSMM	muscle
27	chr12:120677000-120683400	Enhancers	HSMMtube	muscle
28	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:120677600-120682000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:120677800-120681600	Enhancers	HepG2	liver
31	chr12:120677800-120681800	Enhancers	Fetal Heart	heart
32	chr12:120677800-120682000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:120677800-120682000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:120677800-120682000	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr12:120677800-120682000	Enhancers	Right Atrium	heart
36	chr12:120678000-120681600	Enhancers	Right Ventricle	heart
37	chr12:120678000-120681800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:120678000-120682000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:120678000-120683000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:120678000-120683200	Enhancers	NHDF-Ad	bronchial
41	chr12:120678200-120681400	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:120678200-120682000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
44	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:120679000-120681800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:120679000-120682000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:120679200-120682000	Enhancers	Liver	Liver
48	chr12:120679200-120682800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:120679400-120681800	Enhancers	K562	blood
50	chr12:120679400-120682800	Weak transcription	Pancreas	Pancrea

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