Variant report

Variant	rs3791816
Chromosome Location	chr2:191221366-191221367
allele	A/C
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	RCOR1	chr2:191220770-191221383	K562	blood:	n/a	n/a

Variant related genes	Relation type
INPP1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10183133	0.87[JPT][hapmap]
rs10188044	0.87[JPT][hapmap]
rs10209984	0.87[JPT][hapmap]
rs1058180	0.87[JPT][hapmap]
rs10931450	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11683763	0.87[JPT][hapmap]
rs11695166	0.87[JPT][hapmap]
rs11888626	0.87[JPT][hapmap]
rs1366672	0.87[JPT][hapmap]
rs1372054	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16832456	0.87[JPT][hapmap]
rs176712	0.87[JPT][hapmap]
rs1866849	0.87[JPT][hapmap]
rs1882892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188339	0.87[JPT][hapmap]
rs1984626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016037	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067391	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067393	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067395	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067408	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067411	0.91[JPT][hapmap]
rs2067412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067415	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067416	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067418	0.91[JPT][hapmap]
rs2067419	0.91[JPT][hapmap]
rs2067420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067421	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067423	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067424	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136567	0.87[JPT][hapmap]
rs2136568	0.87[JPT][hapmap]
rs2136571	0.86[JPT][hapmap]
rs2244076	0.87[JPT][hapmap]
rs2256301	0.87[JPT][hapmap]
rs2303827	0.87[JPT][hapmap]
rs2353890	0.87[JPT][hapmap]
rs2562796	0.87[JPT][hapmap]
rs2582742	0.87[JPT][hapmap]
rs2582743	0.95[JPT][hapmap]
rs2582744	0.87[JPT][hapmap]
rs2582753	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2582762	0.87[JPT][hapmap]
rs2664241	0.87[JPT][hapmap]
rs2664256	0.86[JPT][hapmap]
rs2664274	0.87[JPT][hapmap]
rs2664275	0.89[JPT][hapmap]
rs2736621	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736622	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291402	0.87[JPT][hapmap]
rs291407	0.87[JPT][hapmap]
rs291413	0.87[JPT][hapmap]
rs291418	0.87[JPT][hapmap]
rs291419	0.87[JPT][hapmap]
rs291423	0.87[JPT][hapmap]
rs291424	0.87[JPT][hapmap]
rs291434	0.91[JPT][hapmap]
rs291435	0.87[JPT][hapmap]
rs291436	0.87[JPT][hapmap]
rs291441	0.87[JPT][hapmap]
rs291442	0.87[JPT][hapmap]
rs291451	0.87[JPT][hapmap]
rs3791788	0.87[JPT][hapmap]
rs3791791	0.86[JPT][hapmap]
rs3791815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707602	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707681	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720060	0.87[JPT][hapmap]
rs6721431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713425	0.87[JPT][hapmap]
rs72627906	0.99[ASN][1000 genomes]
rs7562807	0.87[JPT][hapmap]
rs7565423	0.87[JPT][hapmap]
rs7573689	0.87[JPT][hapmap]
rs7574028	0.87[JPT][hapmap]
rs972689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs979329	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3791816	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs3791816	HIBCH	cis	Thyroid	GTEx
rs3791816	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
3	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:191209800-191224600	Weak transcription	NH-A	brain
7	chr2:191210000-191223600	Weak transcription	Osteobl	bone
8	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:191210400-191223400	Weak transcription	NHLF	lung
10	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
12	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
13	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
15	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
16	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:191216800-191224600	Enhancers	HMEC	breast
18	chr2:191217200-191224200	Weak transcription	HSMM	muscle
19	chr2:191217600-191222800	Enhancers	Fetal Intestine Small	intestine
20	chr2:191217800-191221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:191217800-191222400	Weak transcription	Fetal Lung	lung
22	chr2:191218200-191221800	Enhancers	HepG2	liver
23	chr2:191218200-191223600	Weak transcription	Fetal Thymus	thymus
24	chr2:191218200-191224400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:191218200-191224600	Weak transcription	Right Ventricle	heart
26	chr2:191218400-191223400	Weak transcription	Fetal Heart	heart
27	chr2:191219400-191221400	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:191219400-191222400	Weak transcription	Fetal Stomach	stomach
29	chr2:191219400-191223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:191219400-191223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:191219600-191223000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:191219600-191223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:191219600-191224200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:191219600-191224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:191219600-191243800	Weak transcription	Gastric	stomach
37	chr2:191220000-191223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:191220200-191222000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:191220600-191221400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:191220600-191222600	Weak transcription	Primary B cells from cord blood	blood
41	chr2:191220600-191224600	Enhancers	Liver	Liver
42	chr2:191220800-191221400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191220800-191221400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:191220800-191221400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:191220800-191221400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:191220800-191221400	Enhancers	Brain Angular Gyrus	brain
47	chr2:191220800-191221400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:191220800-191221400	Enhancers	Brain Substantia Nigra	brain
49	chr2:191220800-191221400	Enhancers	Esophagus	oesophagus
50	chr2:191220800-191221400	Enhancers	Fetal Kidney	kidney

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