Variant report

Variant	rs2016037
Chromosome Location	chr2:191217257-191217258
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	NR2F2	chr2:191217239-191218357	HepG2	liver:	n/a	chr2:191217527-191217542
2	SP1	chr2:191217243-191218125	HepG2	liver:	n/a	chr2:191217690-191217699 chr2:191217690-191217700
3	TBL1XR1	chr2:191217105-191218044	K562	blood:	n/a	n/a
4	FOXA2	chr2:191216923-191218922	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:191217221-191218103	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:191217186-191218110	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:191217124-191218080	HepG2	liver:	n/a	n/a
8	NFIC	chr2:191217111-191218234	HepG2	liver:	n/a	n/a
9	MAX	chr2:191217167-191218511	HepG2	liver:	n/a	n/a
10	MYBL2	chr2:191217202-191218300	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:191217170-191218038	HepG2	liver:	n/a	n/a
12	HDAC2	chr2:191217153-191218071	HepG2	liver:	n/a	n/a
13	MBD4	chr2:191216750-191218166	HepG2	liver:	n/a	n/a
14	MYBL2	chr2:191217182-191218251	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191047766..191050235-chr2:191216230..191218317,2	K562	blood:
2	chr2:191212674..191214440-chr2:191216192..191218730,2	MCF-7	breast:
3	chr2:191211450..191214402-chr2:191215945..191217480,2	MCF-7	breast:
4	chr2:191207771..191209541-chr2:191216571..191218107,2	MCF-7	breast:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 179 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs10183133	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs10188044	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs10191068	0.91[CEU][hapmap]
rs10200496	0.80[EUR][1000 genomes]
rs10209516	0.91[CEU][hapmap]
rs10209984	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs1058180	0.90[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs10931448	0.82[EUR][1000 genomes]
rs10931450	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1114863	0.81[EUR][1000 genomes]
rs11216	0.95[CEU][hapmap]
rs11683763	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs11689196	0.87[EUR][1000 genomes]
rs11695166	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs11883568	0.80[EUR][1000 genomes]
rs11888626	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs11894667	0.90[CEU][hapmap]
rs11894766	0.95[CEU][hapmap]
rs13415995	0.91[CEU][hapmap]
rs13429540	0.83[CEU][hapmap]
rs1366672	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs1372054	0.89[ASN][1000 genomes]
rs1583878	0.81[EUR][1000 genomes]
rs16832456	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs176712	0.86[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs1866849	0.91[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs1866850	0.80[EUR][1000 genomes]
rs1882892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs188339	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs1984626	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2015744	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2028431	0.83[EUR][1000 genomes]
rs2067391	0.99[ASN][1000 genomes]
rs2067392	1.00[CHB][hapmap];0.95[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	0.92[EUR][1000 genomes]
rs2067400	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067402	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067405	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067406	0.99[ASN][1000 genomes]
rs2067407	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067408	0.99[ASN][1000 genomes]
rs2067409	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067411	0.86[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes]
rs2067412	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067414	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067415	0.99[ASN][1000 genomes]
rs2067416	0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067417	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067418	0.86[CEU][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes]
rs2067419	0.86[CEU][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes]
rs2067420	1.00[CHB][hapmap];0.96[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	0.90[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs2136568	0.95[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs2136570	0.87[EUR][1000 genomes]
rs2136571	0.95[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs2244075	0.80[EUR][1000 genomes]
rs2244076	0.91[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs2256301	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs2271270	0.95[CEU][hapmap]
rs2303827	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs2353890	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs2354871	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2562796	0.90[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs2582738	0.81[EUR][1000 genomes]
rs2582740	0.81[EUR][1000 genomes]
rs2582742	0.90[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2582743	0.91[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs2582744	0.91[CEU][hapmap];0.83[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	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582762	0.95[CEU][hapmap];0.83[JPT][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	0.91[CEU][hapmap];0.83[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	0.87[CEU][hapmap];0.82[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	0.91[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs2664275	0.95[CEU][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs2664277	0.80[EUR][1000 genomes]
rs2736621	0.99[ASN][1000 genomes]
rs2736622	0.99[ASN][1000 genomes]
rs291402	0.91[CEU][hapmap];0.83[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	0.95[CEU][hapmap];0.83[JPT][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	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs291414	0.80[EUR][1000 genomes]
rs291415	0.80[EUR][1000 genomes]
rs291418	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs291419	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs291423	0.90[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs291424	0.91[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs291425	0.81[EUR][1000 genomes]
rs291426	0.81[EUR][1000 genomes]
rs291434	0.91[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs291435	0.91[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs291436	0.90[CEU][hapmap];0.83[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	0.90[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs291442	0.91[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs291446	0.86[EUR][1000 genomes]
rs291450	0.85[EUR][1000 genomes]
rs291451	0.90[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs291455	0.85[EUR][1000 genomes]
rs291463	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2941092	0.82[EUR][1000 genomes]
rs2966470	0.82[EUR][1000 genomes]
rs3749016	0.95[CEU][hapmap]
rs3791788	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs3791789	0.95[CEU][hapmap]
rs3791791	0.95[CEU][hapmap];0.82[JPT][hapmap]
rs3791806	0.80[EUR][1000 genomes]
rs3791813	0.90[EUR][1000 genomes]
rs3791815	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]
rs3791816	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs3828269	0.95[CEU][hapmap]
rs4656	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4853503	0.80[EUR][1000 genomes]
rs4853685	0.90[CEU][hapmap]
rs4853687	0.90[CEU][hapmap]
rs4853693	0.80[EUR][1000 genomes]
rs4853694	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs57199157	0.85[EUR][1000 genomes]
rs58400804	0.81[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	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs6721431	1.00[CHB][hapmap];0.96[JPT][hapmap];0.98[ASN][1000 genomes]
rs6737514	0.80[EUR][1000 genomes]
rs6751588	0.95[CEU][hapmap]
rs6753459	0.90[CEU][hapmap]
rs67791002	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs713425	0.90[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs713426	0.80[EUR][1000 genomes]
rs72627906	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7562807	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs7565423	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs7567973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7573689	0.91[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs7574028	0.91[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs7580863	0.80[EUR][1000 genomes]
rs7582209	0.80[EUR][1000 genomes]
rs7590942	0.95[CEU][hapmap]
rs760307	0.89[EUR][1000 genomes]
rs972689	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs972690	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs972691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs979329	0.98[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2016037	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2016037	HIBCH	cis	Muscle Skeletal	GTEx
rs2016037	HIBCH	cis	Thyroid	GTEx
rs2016037	INPP1	cis	multi-tissue	Pritchard
rs2016037	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
3	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
5	chr2:191209600-191217800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:191209800-191217400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:191209800-191217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:191209800-191224600	Weak transcription	NH-A	brain
12	chr2:191210000-191218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:191210000-191223600	Weak transcription	Osteobl	bone
16	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:191210400-191217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:191210400-191218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:191210400-191223400	Weak transcription	NHLF	lung
20	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:191210600-191218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
23	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
24	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
26	chr2:191214800-191218600	Enhancers	Brain Anterior Caudate	brain
27	chr2:191214800-191219600	Enhancers	Brain Substantia Nigra	brain
28	chr2:191215400-191220800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:191215800-191218000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:191216200-191217400	Enhancers	K562	blood
31	chr2:191216200-191219600	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:191216400-191218400	Enhancers	Fetal Heart	heart
33	chr2:191216400-191219800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:191216600-191217800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:191216600-191218800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:191216600-191218800	Enhancers	Brain Hippocampus Middle	brain
37	chr2:191216600-191220200	Enhancers	Liver	Liver
38	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
39	chr2:191216800-191217400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:191216800-191217600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:191216800-191217600	Genic enhancers	Gastric	stomach
42	chr2:191216800-191217800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:191216800-191217800	Enhancers	Fetal Lung	lung
44	chr2:191216800-191218000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:191216800-191218000	Enhancers	Esophagus	oesophagus
46	chr2:191216800-191218000	Enhancers	Pancreas	Pancrea
47	chr2:191216800-191218000	Enhancers	Psoas Muscle	Psoas
48	chr2:191216800-191218000	Enhancers	Right Atrium	heart
49	chr2:191216800-191218000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:191216800-191218000	Enhancers	Spleen	Spleen

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