Variant report

Variant	rs60068799
Chromosome Location	chr2:191088614-191088615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10173593	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10183133	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10188044	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10191068	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10196013	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10196351	0.85[EUR][1000 genomes]
rs10200496	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10209516	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10209984	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1058180	0.93[AMR][1000 genomes]
rs1058227	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1058230	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10931448	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1114863	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11216	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11542	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11683636	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683763	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11684995	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685119	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689666	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11692448	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11695166	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11883568	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11888626	0.85[EUR][1000 genomes]
rs11894667	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11894766	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13010589	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13011138	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13405019	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13415995	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13416673	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13429540	0.82[AMR][1000 genomes]
rs1366672	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1583878	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16832420	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16832456	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16832512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176712	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1866849	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1866850	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1972288	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2099127	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099128	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2099129	0.85[EUR][1000 genomes]
rs2136567	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2136570	0.87[AMR][1000 genomes]
rs2136571	0.87[AMR][1000 genomes]
rs2244075	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2244076	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2256301	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2271270	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2303827	0.85[EUR][1000 genomes]
rs2353890	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2354871	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2562796	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582738	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582739	0.86[AMR][1000 genomes]
rs2582740	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582742	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2582743	0.87[AMR][1000 genomes]
rs2582744	0.86[AMR][1000 genomes]
rs2582745	0.93[AMR][1000 genomes]
rs2582747	0.93[AMR][1000 genomes]
rs2582749	0.84[AMR][1000 genomes]
rs2582757	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582762	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582763	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582769	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2582771	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2582772	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582773	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664241	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2664242	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2664243	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2664244	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664246	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2664247	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664249	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664255	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2664256	0.93[AMR][1000 genomes]
rs2664261	0.93[AMR][1000 genomes]
rs2664264	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664266	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2664267	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2664269	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664272	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664273	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664274	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664275	0.85[EUR][1000 genomes]
rs2664276	0.84[EUR][1000 genomes]
rs2664277	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28887221	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs291402	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291403	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291404	0.85[EUR][1000 genomes]
rs291405	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291407	0.85[EUR][1000 genomes]
rs291409	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291410	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291411	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291412	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291413	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291414	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291415	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291418	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291419	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291420	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291421	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs291422	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs291423	0.85[EUR][1000 genomes]
rs291424	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291425	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291426	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291434	0.84[AMR][1000 genomes]
rs291435	0.84[AMR][1000 genomes]
rs291436	0.87[AMR][1000 genomes]
rs291437	0.81[AMR][1000 genomes]
rs291438	0.81[AMR][1000 genomes]
rs291439	0.84[AMR][1000 genomes]
rs291440	0.87[AMR][1000 genomes]
rs291441	0.87[AMR][1000 genomes]
rs291442	0.87[AMR][1000 genomes]
rs291450	0.90[AMR][1000 genomes]
rs291451	0.90[AMR][1000 genomes]
rs291455	0.93[AMR][1000 genomes]
rs291456	0.85[AMR][1000 genomes]
rs2919675	0.90[AMR][1000 genomes]
rs2919676	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2941091	0.83[AMR][1000 genomes]
rs2941092	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2966470	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34760043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35214387	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749015	0.85[EUR][1000 genomes]
rs3749016	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3762548	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791788	0.87[EUR][1000 genomes]
rs3791789	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791790	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791791	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3791792	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791800	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791805	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3791806	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3815961	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3828269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4853503	0.85[EUR][1000 genomes]
rs4853684	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4853685	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4853687	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4853688	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4853689	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4853693	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55684836	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742982	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55815425	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56742312	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56853355	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57110838	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57199157	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58400804	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60469543	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61038868	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434381	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434382	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434383	0.81[AMR][1000 genomes]
rs66738092	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66867328	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720060	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6723792	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737514	0.85[EUR][1000 genomes]
rs6737846	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6749512	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6751238	0.87[EUR][1000 genomes]
rs6751588	0.87[EUR][1000 genomes]
rs6752703	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6753459	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67791002	0.80[EUR][1000 genomes]
rs713425	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs713426	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72625301	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72625302	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72627903	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72627904	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72627905	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7371399	0.83[EUR][1000 genomes]
rs7371409	0.82[EUR][1000 genomes]
rs7562807	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7565423	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7566380	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7567973	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7569296	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7573689	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7574028	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7574495	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7580863	0.85[EUR][1000 genomes]
rs7582209	0.85[EUR][1000 genomes]
rs7583250	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7590942	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599085	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602400	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60068799	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:191056800-191131800	Weak transcription	NHEK	skin
4	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:191060200-191090600	Weak transcription	A549	lung
6	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
7	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:191065000-191088800	Weak transcription	Gastric	stomach
10	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
13	chr2:191077000-191088800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:191077200-191100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:191079200-191099000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:191079400-191109400	Weak transcription	NH-A	brain
18	chr2:191079600-191091400	Weak transcription	Psoas Muscle	Psoas
19	chr2:191079800-191106600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:191080800-191089800	Weak transcription	HSMM	muscle
21	chr2:191081000-191107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:191081600-191107400	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:191081800-191100200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:191081800-191108800	Weak transcription	Fetal Heart	heart
25	chr2:191082000-191096400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:191082000-191106600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:191082000-191107000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:191082000-191107000	Weak transcription	Left Ventricle	heart
29	chr2:191082000-191107200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:191082000-191107200	Weak transcription	Brain Anterior Caudate	brain
31	chr2:191082000-191107800	Weak transcription	Pancreas	Pancrea
32	chr2:191082600-191107000	Weak transcription	Right Ventricle	heart
33	chr2:191082800-191107200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:191083800-191106800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:191084800-191106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:191087000-191088800	Weak transcription	Colonic Mucosa	Colon
37	chr2:191087000-191089000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:191087000-191091200	Weak transcription	Brain Angular Gyrus	brain
39	chr2:191087000-191108000	Weak transcription	K562	blood
40	chr2:191087400-191089000	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr2:191087400-191089000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr2:191087600-191088800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:191087600-191089000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:191087600-191089000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr2:191087600-191089000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:191087600-191089200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr2:191087600-191089200	Strong transcription	Primary T cells from cord blood	blood
48	chr2:191087800-191088800	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr2:191087800-191089000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:191087800-191089000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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