Variant report

Variant	rs10500551
Chromosome Location	chr16:69666970-69666971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69660423..69662352-chr16:69665460..69668239,3	MCF-7	breast:
2	chr16:69665807..69668565-chr16:69668796..69671600,3	K562	blood:
3	chr16:69665807..69668565-chr16:69668907..69671600,2	K562	blood:
4	chr16:69661329..69663803-chr16:69664795..69667678,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10048108	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10163235	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10454066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10852457	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10852458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075727	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11075728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075730	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[ASN][1000 genomes]
rs11075733	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11075734	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs1139178	0.82[EUR][1000 genomes]
rs11639947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641050	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641233	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11642030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11642115	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643240	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11643530	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646884	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648249	0.81[ASN][1000 genomes]
rs12232410	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12447326	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs12447883	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12449005	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595878	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595927	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12596679	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs12596823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12925371	0.82[EUR][1000 genomes]
rs13337236	0.99[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1437136	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16959025	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs16959035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865965	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161631	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2196574	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2217950	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361839	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3169315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3743673	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3885612	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4464069	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs4497676	1.00[CEU][hapmap]
rs4985518	1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs4985523	1.00[CEU][hapmap]
rs55701476	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751101	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56316408	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57488237	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57565297	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60010276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60099379	0.83[EUR][1000 genomes]
rs60472033	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61310815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61426398	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61460899	0.97[ASN][1000 genomes]
rs6499239	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6499255	1.00[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs689455	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7186002	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187653	1.00[CEU][hapmap]
rs7189424	0.82[EUR][1000 genomes]
rs7190652	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7194753	1.00[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7196943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7198242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200935	1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs72783115	0.98[ASN][1000 genomes]
rs74026882	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74029403	0.92[EUR][1000 genomes]
rs8045142	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045682	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs8045705	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8046314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8047885	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052086	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053080	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054000	0.95[ASN][1000 genomes]
rs8054096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8060588	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs920191	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9788803	0.99[ASN][1000 genomes]
rs9788837	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929720	1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs9933526	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940548	0.90[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10500551	HPR	cis	parietal	SCAN
rs10500551	SLC7A6	cis	cerebellum	SCAN
rs10500551	HPR	cis	cerebellum	SCAN
rs10500551	FAM96B	cis	parietal	SCAN
rs10500551	LOC440348	cis	multi-tissue	Pritchard
rs10500551	NRN1L	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69624200-69669600	Weak transcription	Ovary	ovary
2	chr16:69645000-69669600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:69645400-69669800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:69645800-69669600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:69645800-69681000	Weak transcription	Fetal Brain Female	brain
6	chr16:69647200-69669000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:69647600-69670200	Weak transcription	Fetal Kidney	kidney
8	chr16:69647600-69705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:69647800-69669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:69647800-69669200	Weak transcription	Adipose Nuclei	Adipose
11	chr16:69648000-69669200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:69648000-69669600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:69648400-69668400	Weak transcription	HMEC	breast
14	chr16:69648800-69668400	Weak transcription	Dnd41	blood
15	chr16:69650200-69670000	Weak transcription	Pancreas	Pancrea
16	chr16:69650200-69670200	Weak transcription	Gastric	stomach
17	chr16:69650200-69670200	Weak transcription	Spleen	Spleen
18	chr16:69650400-69669200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:69650600-69670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:69653000-69668800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:69653600-69669400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:69653600-69669800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:69653600-69670000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr16:69653600-69680800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:69653600-69689600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:69653800-69669200	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:69653800-69670000	Weak transcription	Right Ventricle	heart
28	chr16:69653800-69670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:69653800-69670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:69653800-69670200	Weak transcription	Brain Germinal Matrix	brain
31	chr16:69654000-69667400	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:69654200-69669800	Weak transcription	Brain Anterior Caudate	brain
33	chr16:69654200-69670000	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:69654200-69670200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:69654200-69703600	Weak transcription	Brain Angular Gyrus	brain
36	chr16:69654200-69705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:69654600-69705000	Weak transcription	Psoas Muscle	Psoas
38	chr16:69655400-69667000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:69656000-69670600	Weak transcription	Small Intestine	intestine
40	chr16:69658800-69669000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:69659200-69670000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:69659800-69669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:69660000-69669000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:69660200-69670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:69660200-69670400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:69660200-69671800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:69660400-69670200	Weak transcription	NHLF	lung
48	chr16:69660400-69709600	Weak transcription	Fetal Brain Male	brain
49	chr16:69660600-69669200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:69660600-69670000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links