Variant report

Variant	rs11650427
Chromosome Location	chr17:16158774-16158775
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1029809	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852834	0.95[EUR][1000 genomes]
rs11078337	0.88[EUR][1000 genomes]
rs11078342	1.00[JPT][hapmap]
rs11078343	1.00[JPT][hapmap]
rs1125156	0.85[CEU][hapmap]
rs1160109	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs11650283	0.83[TSI][hapmap]
rs11650678	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs11650956	0.87[EUR][1000 genomes]
rs11651578	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs11653500	0.82[EUR][1000 genomes]
rs11653650	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654658	0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs11656811	0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs11868284	0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs11869614	1.00[JPT][hapmap]
rs11871929	1.00[JPT][hapmap]
rs11871963	1.00[JPT][hapmap]
rs11872032	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs12150564	0.93[EUR][1000 genomes]
rs12936233	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936529	0.95[EUR][1000 genomes]
rs12938397	0.81[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs12938878	0.85[EUR][1000 genomes]
rs12939078	0.86[EUR][1000 genomes]
rs12945855	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945959	0.80[EUR][1000 genomes]
rs12946619	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1476810	0.83[TSI][hapmap]
rs15739	0.83[TSI][hapmap]
rs178657	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs178787	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs178789	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs178791	0.81[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs178797	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs178798	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs178799	0.85[CEU][hapmap]
rs178802	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs178805	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs178809	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs178816	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap]
rs178820	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs178837	0.81[TSI][hapmap]
rs1963811	0.89[EUR][1000 genomes]
rs1989856	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs2109262	0.82[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs2324306	0.85[EUR][1000 genomes]
rs2324307	0.88[EUR][1000 genomes]
rs34331598	0.82[EUR][1000 genomes]
rs3785620	0.80[EUR][1000 genomes]
rs3785622	0.86[EUR][1000 genomes]
rs3785625	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs3785626	0.82[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs4470185	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs4791662	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs4792728	0.82[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs4792729	0.89[EUR][1000 genomes]
rs4792731	0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs62072527	0.82[EUR][1000 genomes]
rs62072528	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502498	0.83[EUR][1000 genomes]
rs7210990	0.88[CEU][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs7215071	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223428	0.82[EUR][1000 genomes]
rs8074727	0.88[EUR][1000 genomes]
rs941411	1.00[JPT][hapmap]
rs9889720	0.83[ASN][1000 genomes]
rs9891379	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs9897073	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9902141	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs9903464	1.00[CHB][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs9903871	0.80[ASN][1000 genomes]
rs9909022	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9909697	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9910148	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs9914734	0.90[EUR][1000 genomes]
rs9916220	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944524	0.91[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs11650427	CENPV	cis	lymphoblastoid	seeQTL
rs11650427	PRR6	cis	multi-tissue	Pritchard
rs11650427	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs11650427	ZSWIM7	cis	Muscle Skeletal	GTEx
rs11650427	CENPV	cis	Artery Tibial	GTEx
rs11650427	ADORA2B	cis	Nerve Tibial	GTEx
rs11650427	TTC19	cis	lymphoblastoid	seeQTL
rs11650427	ADORA2B	cis	Muscle Skeletal	GTEx
rs11650427	CENPV	cis	parietal	SCAN
rs11650427	LOC125150	cis	uninvolved skin	skin_eQTL
rs11650427	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs11650427	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs11650427	ADORA2B	cis	Esophagus Muscularis	GTEx
rs11650427	TRPV2	cis	parietal	SCAN
rs11650427	LOC125150	cis	lesional skin	skin_eQTL
rs11650427	ADORA2B	cis	Thyroid	GTEx
rs11650427	ELAC2	cis	parietal	SCAN
rs11650427	LOC125150	cis	normal skin	skin_eQTL
rs11650427	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs11650427	ADORA2B	cis	Artery Tibial	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
3	chr17:16121200-16159800	Weak transcription	Lung	lung
4	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
11	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:16126400-16158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:16132200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:16132400-16163600	Weak transcription	HSMM	muscle
16	chr17:16133800-16163000	Weak transcription	Fetal Thymus	thymus
17	chr17:16133800-16176200	Weak transcription	NHEK	skin
18	chr17:16134000-16170600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:16134200-16162400	Weak transcription	Dnd41	blood
20	chr17:16134400-16163200	Weak transcription	Thymus	Thymus
21	chr17:16134800-16163200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:16138600-16163400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:16138600-16170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:16139000-16163400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:16139400-16163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:16139600-16163400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:16140000-16170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr17:16141400-16159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:16143800-16160600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr17:16144000-16163000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:16147400-16158800	Weak transcription	NH-A	brain
32	chr17:16147400-16163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:16147400-16167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:16147600-16158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:16147600-16158800	Weak transcription	GM12878-XiMat	blood
36	chr17:16147600-16158800	Weak transcription	K562	blood
37	chr17:16147600-16163200	Weak transcription	Primary T cells from cord blood	blood
38	chr17:16148000-16159200	Weak transcription	Small Intestine	intestine
39	chr17:16150800-16158800	Weak transcription	Pancreas	Pancrea
40	chr17:16151600-16158800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:16151600-16160000	Weak transcription	Aorta	Aorta
42	chr17:16154400-16176600	Weak transcription	Hela-S3	cervix
43	chr17:16155200-16158800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:16156600-16158800	Weak transcription	Ovary	ovary
45	chr17:16156600-16163400	Weak transcription	Esophagus	oesophagus
46	chr17:16157000-16161200	Enhancers	Fetal Intestine Small	intestine
47	chr17:16157400-16185200	Weak transcription	Gastric	stomach
48	chr17:16157800-16158800	Enhancers	Colonic Mucosa	Colon
49	chr17:16157800-16158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:16158000-16158800	Enhancers	Fetal Intestine Large	intestine

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