Variant report

Variant	rs7120814
Chromosome Location	chr11:34236890-34236891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34230274..34232780-chr11:34235455..34237065,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1022722	0.97[ASN][1000 genomes]
rs11032552	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032554	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032555	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032557	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032561	0.87[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.81[ASN][1000 genomes]
rs11032562	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11604651	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224748	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12271968	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12272398	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12286749	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12417958	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418582	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12420504	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1883959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2473900	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2611088	0.84[ASN][1000 genomes]
rs2611089	0.95[ASN][1000 genomes]
rs2746628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2746629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs55954105	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56126876	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949361	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv515783	chr11:34230517-34237292	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7120814	HIPK3	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
2	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
3	chr11:34227000-34244400	Weak transcription	Pancreas	Pancrea
4	chr11:34228800-34237200	Enhancers	HepG2	liver
5	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:34230600-34238600	Weak transcription	Psoas Muscle	Psoas
7	chr11:34230600-34244400	Weak transcription	Right Ventricle	heart
8	chr11:34230800-34241000	Weak transcription	Placenta	Placenta
9	chr11:34232400-34241800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:34234000-34237000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:34234800-34241600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:34235000-34237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:34235000-34237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:34235000-34237200	Enhancers	Liver	Liver
15	chr11:34235200-34237200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:34235200-34237200	Enhancers	NH-A	brain
17	chr11:34235200-34237600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:34235200-34237600	Enhancers	Hela-S3	cervix
19	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
20	chr11:34236200-34237200	Enhancers	NHEK	skin
21	chr11:34236200-34238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:34236400-34237000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:34236400-34237000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:34236400-34237000	Enhancers	Fetal Lung	lung
25	chr11:34236400-34237000	Enhancers	HSMM	muscle
26	chr11:34236400-34237000	Enhancers	NHLF	lung
27	chr11:34236400-34237000	Enhancers	Osteobl	bone
28	chr11:34236400-34237200	Enhancers	NHDF-Ad	bronchial
29	chr11:34236400-34237800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34236400-34237800	Enhancers	HMEC	breast
31	chr11:34236600-34237000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:34236600-34237000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:34236600-34237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:34236600-34237000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:34236600-34237000	Enhancers	Right Atrium	heart
36	chr11:34236600-34237000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:34236600-34237000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:34236600-34237000	Enhancers	GM12878-XiMat	blood
39	chr11:34236600-34237000	Enhancers	HSMMtube	muscle
40	chr11:34236600-34237200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:34236600-34237200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:34236600-34237200	Flanking Active TSS	A549	lung
43	chr11:34236600-34237400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:34236600-34237400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:34236600-34237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:34236800-34237200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:34236800-34237800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:34236800-34238600	Weak transcription	Gastric	stomach
49	chr11:34236800-34241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:34236800-34241800	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links