Variant report

Variant	rs3791815
Chromosome Location	chr2:191219614-191219615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr2:191218929-191219631	K562	blood:	n/a	n/a
2	POLR2A	chr2:191219489-191219642	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr2:191218993-191219616	K562	blood:	n/a	n/a

Variant related genes	Relation type
INPP1	TF binding region

Extended variants
information (count: 185 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10183133	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs10188044	0.90[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs10188870	0.81[CEU][hapmap]
rs10191068	0.95[CEU][hapmap]
rs10200496	0.80[EUR][1000 genomes]
rs10209516	0.95[CEU][hapmap]
rs10209984	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs1058180	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs10931448	0.82[EUR][1000 genomes]
rs10931450	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1114863	0.81[EUR][1000 genomes]
rs11216	0.91[CEU][hapmap]
rs11683763	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs11689196	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11692448	0.92[MEX][hapmap];0.87[TSI][hapmap]
rs11695166	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs11883568	0.80[EUR][1000 genomes]
rs11888626	0.91[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs11894667	0.95[CEU][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs11894766	0.95[CEU][hapmap]
rs13415995	0.95[CEU][hapmap]
rs13429540	0.86[CEU][hapmap]
rs1366672	0.91[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs1372054	0.87[ASN][1000 genomes]
rs1583878	0.81[EUR][1000 genomes]
rs16832420	0.83[MEX][hapmap];0.89[TSI][hapmap]
rs16832456	0.91[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs176712	0.90[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs1866849	0.95[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs1866850	0.80[EUR][1000 genomes]
rs1882892	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs188339	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs1984626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2015744	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2016037	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2028431	0.83[EUR][1000 genomes]
rs2067391	0.99[ASN][1000 genomes]
rs2067392	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067393	0.99[ASN][1000 genomes]
rs2067394	0.99[ASN][1000 genomes]
rs2067395	0.99[ASN][1000 genomes]
rs2067397	0.99[ASN][1000 genomes]
rs2067398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2067400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067406	0.99[ASN][1000 genomes]
rs2067407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067408	0.99[ASN][1000 genomes]
rs2067409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067411	0.90[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2067412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067415	0.99[ASN][1000 genomes]
rs2067416	0.91[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067417	0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067418	0.89[ASW][hapmap];0.90[CEU][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2067419	0.90[CEU][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2067420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067421	0.99[ASN][1000 genomes]
rs2067423	0.99[ASN][1000 genomes]
rs2067424	0.98[ASN][1000 genomes]
rs2067425	0.99[ASN][1000 genomes]
rs2067454	0.83[EUR][1000 genomes]
rs2099128	0.80[EUR][1000 genomes]
rs2099129	0.80[EUR][1000 genomes]
rs2136567	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs2136568	0.90[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2136570	0.87[EUR][1000 genomes]
rs2136571	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2244075	0.80[EUR][1000 genomes]
rs2244076	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2256301	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs2271270	0.90[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs2303827	0.91[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs2353890	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs2354871	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2562796	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs2582738	0.81[EUR][1000 genomes]
rs2582740	0.81[EUR][1000 genomes]
rs2582742	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs2582743	0.95[CEU][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs2582744	0.95[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs2582745	0.85[EUR][1000 genomes]
rs2582747	0.86[EUR][1000 genomes]
rs2582749	0.86[EUR][1000 genomes]
rs2582753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582762	0.91[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs2582763	0.80[EUR][1000 genomes]
rs2582772	0.81[EUR][1000 genomes]
rs2582773	0.81[EUR][1000 genomes]
rs2664241	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs2664244	0.81[EUR][1000 genomes]
rs2664247	0.81[EUR][1000 genomes]
rs2664249	0.81[EUR][1000 genomes]
rs2664255	0.81[EUR][1000 genomes]
rs2664256	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs2664261	0.86[EUR][1000 genomes]
rs2664264	0.80[EUR][1000 genomes]
rs2664266	0.82[EUR][1000 genomes]
rs2664267	0.82[EUR][1000 genomes]
rs2664269	0.80[EUR][1000 genomes]
rs2664272	0.80[EUR][1000 genomes]
rs2664274	0.95[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs2664275	0.90[CEU][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs2664277	0.80[EUR][1000 genomes]
rs2736621	0.97[ASN][1000 genomes]
rs2736622	0.98[ASN][1000 genomes]
rs291402	0.95[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs291403	0.80[EUR][1000 genomes]
rs291404	0.80[EUR][1000 genomes]
rs291405	0.80[EUR][1000 genomes]
rs291407	0.91[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs291409	0.80[EUR][1000 genomes]
rs291410	0.80[EUR][1000 genomes]
rs291412	0.80[EUR][1000 genomes]
rs291413	0.91[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs291414	0.80[EUR][1000 genomes]
rs291415	0.80[EUR][1000 genomes]
rs291418	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs291419	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs291423	0.95[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs291424	0.95[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs291425	0.81[EUR][1000 genomes]
rs291426	0.81[EUR][1000 genomes]
rs291434	0.95[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs291435	0.95[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs291436	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs291437	0.87[EUR][1000 genomes]
rs291438	0.87[EUR][1000 genomes]
rs291439	0.87[EUR][1000 genomes]
rs291440	0.87[EUR][1000 genomes]
rs291441	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs291442	0.95[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs291446	0.86[EUR][1000 genomes]
rs291450	0.85[EUR][1000 genomes]
rs291451	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs291455	0.85[EUR][1000 genomes]
rs291463	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2941092	0.82[EUR][1000 genomes]
rs2966470	0.82[EUR][1000 genomes]
rs3749016	0.91[CEU][hapmap];0.89[TSI][hapmap]
rs3791788	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs3791789	0.91[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs3791791	0.91[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs3791805	0.92[MEX][hapmap];0.87[TSI][hapmap]
rs3791806	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3791813	0.90[EUR][1000 genomes]
rs3791816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3828269	0.91[CEU][hapmap];0.95[TSI][hapmap]
rs4656	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4853503	0.80[EUR][1000 genomes]
rs4853684	0.84[MEX][hapmap];0.92[TSI][hapmap]
rs4853685	0.95[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap]
rs4853687	0.95[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs4853689	0.83[MEX][hapmap];0.89[TSI][hapmap]
rs4853693	0.80[EUR][1000 genomes]
rs4853694	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs57199157	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58400804	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60986316	0.91[EUR][1000 genomes]
rs6707602	0.99[ASN][1000 genomes]
rs6707681	0.99[ASN][1000 genomes]
rs6720060	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs6721431	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs6737514	0.80[EUR][1000 genomes]
rs6751588	0.90[CEU][hapmap]
rs6753459	0.95[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs67791002	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs713425	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs713426	0.80[EUR][1000 genomes]
rs72627906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562807	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap]
rs7565423	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs7567973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7573689	0.95[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs7574028	0.95[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs7580863	0.80[EUR][1000 genomes]
rs7582209	0.80[EUR][1000 genomes]
rs7590942	0.91[CEU][hapmap]
rs760307	0.81[CEU][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs972689	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs972690	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs972691	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs979329	0.97[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3791815	HIBCH	cis	Muscle Skeletal	GTEx
rs3791815	INPP1	cis	multi-tissue	Pritchard
rs3791815	INPP1	cis	Lymphoblastoid	GTEx
rs3791815	INPP1	cis	parietal	SCAN
rs3791815	HIBCH	cis	multi-tissue	Pritchard
rs3791815	HIBCH	cis	Thyroid	GTEx
rs3791815	INPP1	cis	lymphoblastoid	seeQTL
rs3791815	MFSD6	cis	cerebellum	SCAN
rs3791815	HIBCH	cis	cerebellum	SCAN
rs3791815	HIBCH	cis	parietal	SCAN
rs3791815	INPP1	cis	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
2	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
4	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191209800-191224600	Weak transcription	NH-A	brain
8	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:191210000-191223600	Weak transcription	Osteobl	bone
11	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:191210400-191223400	Weak transcription	NHLF	lung
13	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
15	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
16	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
18	chr2:191215400-191220800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:191216400-191219800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:191216600-191220200	Enhancers	Liver	Liver
21	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
22	chr2:191216800-191220400	Enhancers	Brain Angular Gyrus	brain
23	chr2:191216800-191221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:191216800-191224600	Enhancers	HMEC	breast
26	chr2:191217200-191220200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:191217200-191220800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:191217200-191224200	Weak transcription	HSMM	muscle
29	chr2:191217400-191220800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:191217600-191222800	Enhancers	Fetal Intestine Small	intestine
31	chr2:191217800-191220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:191217800-191220800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:191217800-191221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:191217800-191222400	Weak transcription	Fetal Lung	lung
35	chr2:191218000-191220800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:191218000-191220800	Weak transcription	Psoas Muscle	Psoas
37	chr2:191218000-191220800	Weak transcription	Right Atrium	heart
38	chr2:191218000-191220800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:191218000-191220800	Weak transcription	Spleen	Spleen
40	chr2:191218000-191221000	Weak transcription	Thymus	Thymus
41	chr2:191218200-191220200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:191218200-191220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:191218200-191220800	Weak transcription	Left Ventricle	heart
44	chr2:191218200-191221800	Enhancers	HepG2	liver
45	chr2:191218200-191223600	Weak transcription	Fetal Thymus	thymus
46	chr2:191218200-191224400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:191218200-191224600	Weak transcription	Right Ventricle	heart
48	chr2:191218400-191220800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:191218400-191220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:191218400-191223400	Weak transcription	Fetal Heart	heart

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