Variant report

Variant	rs2746628
Chromosome Location	chr11:34237292-34237293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1022722	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10768052	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10836161	0.88[EUR][1000 genomes]
rs11032552	0.96[ASN][1000 genomes]
rs11032554	0.96[ASN][1000 genomes]
rs11032555	0.97[ASN][1000 genomes]
rs11032556	0.98[ASN][1000 genomes]
rs11032557	0.97[ASN][1000 genomes]
rs11032558	0.98[ASN][1000 genomes]
rs11032559	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11032561	0.87[CHB][hapmap];0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs11032562	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11604651	0.98[ASN][1000 genomes]
rs12224748	0.98[ASN][1000 genomes]
rs12271968	0.96[ASN][1000 genomes]
rs12272398	0.96[ASN][1000 genomes]
rs12286749	0.96[ASN][1000 genomes]
rs12417958	0.97[ASN][1000 genomes]
rs12418582	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs12420504	0.94[ASN][1000 genomes]
rs167054	0.82[EUR][1000 genomes]
rs1883959	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2179829	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2473900	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2611088	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2611089	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746629	0.96[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];1.00[ASN][1000 genomes]
rs2746632	0.84[EUR][1000 genomes]
rs4755362	0.87[EUR][1000 genomes]
rs4755363	0.83[CEU][hapmap];0.80[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4756116	0.85[EUR][1000 genomes]
rs4756117	0.88[EUR][1000 genomes]
rs55954105	0.96[ASN][1000 genomes]
rs56126876	0.96[ASN][1000 genomes]
rs6484701	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7118745	0.88[EUR][1000 genomes]
rs7120814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7124297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7927282	0.87[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs7941795	0.88[EUR][1000 genomes]
rs7949361	0.98[ASN][1000 genomes]
rs9783356	0.88[EUR][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
rs2746628	HIPK3	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

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	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:34230600-34238600	Weak transcription	Psoas Muscle	Psoas
6	chr11:34230600-34244400	Weak transcription	Right Ventricle	heart
7	chr11:34230800-34241000	Weak transcription	Placenta	Placenta
8	chr11:34232400-34241800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:34234800-34241600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:34235200-34237600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:34235200-34237600	Enhancers	Hela-S3	cervix
12	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
13	chr11:34236200-34238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:34236400-34237800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:34236400-34237800	Enhancers	HMEC	breast
16	chr11:34236600-34237400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:34236600-34237400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:34236600-34237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:34236800-34237800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:34236800-34238600	Weak transcription	Gastric	stomach
21	chr11:34236800-34241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:34236800-34241800	Weak transcription	Lung	lung
23	chr11:34236800-34244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:34236800-34244400	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:34237000-34239400	Weak transcription	Fetal Lung	lung
26	chr11:34237000-34241200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:34237000-34244200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:34237000-34244200	Weak transcription	Osteobl	bone
31	chr11:34237000-34244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:34237000-34244400	Weak transcription	Right Atrium	heart
33	chr11:34237000-34244400	Weak transcription	HSMMtube	muscle
34	chr11:34237200-34238200	Enhancers	A549	lung
35	chr11:34237200-34240000	Weak transcription	HepG2	liver
36	chr11:34237200-34241200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:34237200-34243800	Weak transcription	Liver	Liver
38	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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