Variant report

Variant	rs16832512
Chromosome Location	chr2:191151658-191151659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10173593	0.83[EUR][1000 genomes]
rs10183133	0.82[EUR][1000 genomes]
rs10188044	0.84[EUR][1000 genomes]
rs10191068	0.82[EUR][1000 genomes]
rs10196013	0.83[EUR][1000 genomes]
rs10196351	0.83[EUR][1000 genomes]
rs10200496	0.84[EUR][1000 genomes]
rs10209516	0.81[EUR][1000 genomes]
rs10209984	0.82[EUR][1000 genomes]
rs1058180	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10931448	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1114863	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11216	0.81[EUR][1000 genomes]
rs11683636	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11683763	0.83[EUR][1000 genomes]
rs11684995	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11685119	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11689196	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689666	0.83[EUR][1000 genomes]
rs11692448	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11695166	0.83[EUR][1000 genomes]
rs11883568	0.84[EUR][1000 genomes]
rs11888626	0.84[EUR][1000 genomes]
rs11894766	0.82[EUR][1000 genomes]
rs13010589	0.81[EUR][1000 genomes]
rs13011138	0.83[EUR][1000 genomes]
rs13405019	0.82[EUR][1000 genomes]
rs13415995	0.82[EUR][1000 genomes]
rs13416673	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1366672	0.83[EUR][1000 genomes]
rs1583878	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16832420	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16832456	0.84[EUR][1000 genomes]
rs176712	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1866849	0.88[EUR][1000 genomes]
rs1866850	0.88[EUR][1000 genomes]
rs1972288	0.82[EUR][1000 genomes]
rs2028431	0.82[AMR][1000 genomes]
rs2099127	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2099128	0.84[EUR][1000 genomes]
rs2099129	0.84[EUR][1000 genomes]
rs2136567	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2136570	0.80[AMR][1000 genomes]
rs2136571	0.80[AMR][1000 genomes]
rs2244075	0.84[EUR][1000 genomes]
rs2244076	0.84[EUR][1000 genomes]
rs2256301	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2271270	0.81[EUR][1000 genomes]
rs2303827	0.84[EUR][1000 genomes]
rs2353890	0.82[EUR][1000 genomes]
rs2354871	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2562796	0.84[EUR][1000 genomes]
rs2582738	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2582739	0.85[EUR][1000 genomes]
rs2582740	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2582742	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582744	0.82[EUR][1000 genomes]
rs2582745	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582747	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2582757	0.83[EUR][1000 genomes]
rs2582762	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2582763	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2582769	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582771	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2582773	0.88[EUR][1000 genomes]
rs2664241	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664242	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664243	0.86[EUR][1000 genomes]
rs2664244	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2664246	0.86[EUR][1000 genomes]
rs2664247	0.88[EUR][1000 genomes]
rs2664249	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2664255	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2664256	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664261	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2664264	0.84[EUR][1000 genomes]
rs2664266	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664267	0.86[EUR][1000 genomes]
rs2664269	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664272	0.84[EUR][1000 genomes]
rs2664273	0.83[EUR][1000 genomes]
rs2664274	0.84[EUR][1000 genomes]
rs2664275	0.84[EUR][1000 genomes]
rs2664276	0.83[EUR][1000 genomes]
rs2664277	0.84[EUR][1000 genomes]
rs28887221	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291402	0.84[EUR][1000 genomes]
rs291403	0.84[EUR][1000 genomes]
rs291404	0.84[EUR][1000 genomes]
rs291405	0.84[EUR][1000 genomes]
rs291407	0.84[EUR][1000 genomes]
rs291409	0.84[EUR][1000 genomes]
rs291410	0.84[EUR][1000 genomes]
rs291411	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291412	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291413	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291414	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291415	0.84[EUR][1000 genomes]
rs291418	0.83[EUR][1000 genomes]
rs291419	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291420	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291421	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs291422	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291423	0.85[EUR][1000 genomes]
rs291424	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291425	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291426	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291436	0.80[AMR][1000 genomes]
rs291440	0.80[AMR][1000 genomes]
rs291441	0.80[AMR][1000 genomes]
rs291442	0.80[AMR][1000 genomes]
rs291450	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291451	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291455	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291456	0.81[AMR][1000 genomes]
rs2919675	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2919676	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2941092	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2966470	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34760043	0.82[EUR][1000 genomes]
rs35214387	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762548	0.82[EUR][1000 genomes]
rs3791788	0.82[EUR][1000 genomes]
rs3791789	0.82[EUR][1000 genomes]
rs3791790	0.81[EUR][1000 genomes]
rs3791791	0.83[EUR][1000 genomes]
rs3791792	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791805	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791806	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3815961	0.82[EUR][1000 genomes]
rs3828269	0.82[EUR][1000 genomes]
rs4146044	0.82[EUR][1000 genomes]
rs4853503	0.84[EUR][1000 genomes]
rs4853684	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4853687	0.82[EUR][1000 genomes]
rs4853688	0.83[EUR][1000 genomes]
rs4853689	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853693	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55684836	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55742982	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55815425	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56742312	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56853355	0.82[EUR][1000 genomes]
rs57110838	0.81[EUR][1000 genomes]
rs57199157	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58400804	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60068799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60469543	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61038868	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6434381	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434382	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66738092	0.82[EUR][1000 genomes]
rs66867328	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6720060	0.83[EUR][1000 genomes]
rs6723792	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6737514	0.84[EUR][1000 genomes]
rs6737846	0.81[EUR][1000 genomes]
rs6749512	0.83[EUR][1000 genomes]
rs6751238	0.82[EUR][1000 genomes]
rs6751588	0.82[EUR][1000 genomes]
rs6752703	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753459	0.81[EUR][1000 genomes]
rs67791002	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs713425	0.84[EUR][1000 genomes]
rs713426	0.84[EUR][1000 genomes]
rs72625301	0.82[EUR][1000 genomes]
rs72625302	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72627903	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72627904	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72627905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562807	0.82[EUR][1000 genomes]
rs7565423	0.82[EUR][1000 genomes]
rs7566380	0.83[EUR][1000 genomes]
rs7567973	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569296	0.82[EUR][1000 genomes]
rs7573689	0.84[EUR][1000 genomes]
rs7574028	0.84[EUR][1000 genomes]
rs7574495	0.82[EUR][1000 genomes]
rs7580863	0.84[EUR][1000 genomes]
rs7582209	0.84[EUR][1000 genomes]
rs7583250	0.82[EUR][1000 genomes]
rs7590942	0.82[EUR][1000 genomes]
rs7599085	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7602400	0.83[EUR][1000 genomes]
rs760307	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16832512	HIBCH	cis	Thyroid	GTEx
rs16832512	HIBCH	cis	lung	GTEx
rs16832512	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
2	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
11	chr2:191123400-191160000	Weak transcription	Ovary	ovary
12	chr2:191123600-191155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:191123800-191155800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:191124400-191153000	Weak transcription	Placenta	Placenta
15	chr2:191125800-191159000	Weak transcription	HSMM	muscle
16	chr2:191132600-191180200	Weak transcription	NH-A	brain
17	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
18	chr2:191137400-191183200	Weak transcription	A549	lung
19	chr2:191137600-191154400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:191140000-191165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:191141600-191152400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:191141800-191183000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:191142400-191173200	Weak transcription	NHLF	lung
24	chr2:191142600-191180200	Weak transcription	Hela-S3	cervix
25	chr2:191142600-191181200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:191143000-191167000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:191143000-191183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:191143200-191162000	Strong transcription	Liver	Liver
29	chr2:191143800-191152800	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:191144400-191165600	Weak transcription	Stomach Mucosa	stomach
31	chr2:191145200-191164800	Weak transcription	Fetal Brain Female	brain
32	chr2:191145200-191166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:191145600-191183200	Weak transcription	HUVEC	blood vessel
34	chr2:191145800-191166000	Weak transcription	Right Ventricle	heart
35	chr2:191145800-191183000	Weak transcription	HMEC	breast
36	chr2:191146000-191160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:191146000-191171000	Weak transcription	Psoas Muscle	Psoas
38	chr2:191146000-191181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:191146000-191181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:191146200-191157600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:191146200-191165800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:191146400-191172600	Weak transcription	HSMMtube	muscle
43	chr2:191146600-191154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:191146600-191166800	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:191147200-191156400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:191147400-191154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:191148000-191156200	Strong transcription	Dnd41	blood
48	chr2:191148400-191153400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:191148400-191161800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:191148600-191161400	Strong transcription	Fetal Thymus	thymus

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