Variant report

Variant	rs2067418
Chromosome Location	chr2:191226932-191226933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191225210..191228112-chr2:191310509..191313040,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10183133	0.82[CEU][hapmap]
rs10188044	0.81[CEU][hapmap]
rs10191068	0.86[CEU][hapmap]
rs10209516	0.85[CEU][hapmap]
rs10209984	0.86[CEU][hapmap]
rs1058180	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs10931450	0.90[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11216	0.82[CEU][hapmap]
rs11683763	0.81[CEU][hapmap]
rs11684995	0.84[CEU][hapmap]
rs11689196	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692448	0.84[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs11695166	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs11888626	0.82[CEU][hapmap]
rs11894667	0.86[CEU][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs11894766	0.85[CEU][hapmap]
rs13415995	0.85[CEU][hapmap]
rs1366672	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs16832420	0.84[CEU][hapmap];0.86[TSI][hapmap]
rs16832456	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs176712	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs1866849	0.86[CEU][hapmap]
rs1882892	0.87[JPT][hapmap]
rs188339	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs1984626	0.91[JPT][hapmap]
rs2015744	0.91[JPT][hapmap]
rs2016037	0.86[CEU][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes]
rs2028431	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2067392	0.91[JPT][hapmap]
rs2067398	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067400	0.91[JPT][hapmap]
rs2067402	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];0.94[EUR][1000 genomes]
rs2067405	0.91[JPT][hapmap]
rs2067407	0.91[JPT][hapmap]
rs2067409	0.91[JPT][hapmap]
rs2067411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067412	0.91[JPT][hapmap]
rs2067414	0.91[JPT][hapmap]
rs2067416	0.91[JPT][hapmap]
rs2067417	0.91[JPT][hapmap]
rs2067419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067420	0.91[JPT][hapmap]
rs2067454	0.87[EUR][1000 genomes]
rs2099127	0.84[CEU][hapmap]
rs2136567	0.86[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs2136568	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2136570	0.83[EUR][1000 genomes]
rs2136571	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2244076	0.90[CEU][hapmap]
rs2256301	0.86[CEU][hapmap]
rs2271270	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs2303827	0.82[CEU][hapmap]
rs2353890	0.86[CEU][hapmap]
rs2354871	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562796	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs2582742	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs2582743	0.85[CEU][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs2582744	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2582745	0.80[EUR][1000 genomes]
rs2582747	0.81[EUR][1000 genomes]
rs2582749	0.82[EUR][1000 genomes]
rs2582753	0.89[ASW][hapmap];0.90[CEU][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2582762	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs2664241	0.86[CEU][hapmap]
rs2664256	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs2664261	0.81[EUR][1000 genomes]
rs2664274	0.86[CEU][hapmap]
rs2664275	0.80[CEU][hapmap]
rs291402	0.86[CEU][hapmap]
rs291407	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs291413	0.82[CEU][hapmap]
rs291418	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs291419	0.82[CEU][hapmap]
rs291423	0.85[CEU][hapmap]
rs291424	0.86[CEU][hapmap]
rs291434	0.85[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs291435	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs291436	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs291437	0.83[EUR][1000 genomes]
rs291438	0.83[EUR][1000 genomes]
rs291439	0.83[EUR][1000 genomes]
rs291440	0.83[EUR][1000 genomes]
rs291441	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs291442	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs291446	0.81[EUR][1000 genomes]
rs291450	0.80[EUR][1000 genomes]
rs291451	0.86[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs291455	0.80[EUR][1000 genomes]
rs291463	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs3749016	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs3791788	0.86[CEU][hapmap]
rs3791789	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs3791791	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs3791800	0.84[CEU][hapmap]
rs3791805	0.84[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs3791806	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3791813	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791815	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]
rs3791816	0.91[JPT][hapmap]
rs3828269	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs4656	0.91[JPT][hapmap]
rs4853684	0.84[CEU][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap]
rs4853685	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs4853687	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs4853689	0.84[CEU][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs4853693	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4853694	0.91[JPT][hapmap]
rs57199157	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58400804	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60469543	0.83[EUR][1000 genomes]
rs60986316	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6720060	0.82[CEU][hapmap]
rs6721431	0.82[JPT][hapmap]
rs6751588	0.81[CEU][hapmap]
rs6752703	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6753459	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs67791002	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs713425	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs72627906	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7562807	0.86[CEU][hapmap];0.90[TSI][hapmap]
rs7565423	0.86[CEU][hapmap]
rs7567973	0.90[EUR][1000 genomes]
rs7573689	0.86[CEU][hapmap]
rs7574028	0.86[CEU][hapmap]
rs7590942	0.82[CEU][hapmap]
rs760307	0.90[CEU][hapmap];0.96[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs972689	0.91[JPT][hapmap]
rs972690	0.91[JPT][hapmap]
rs972691	0.91[JPT][hapmap]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2067418	HIBCH	cis	cerebellum	SCAN
rs2067418	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2067418	INPP1	cis	lymphoblastoid	seeQTL
rs2067418	MFSD6	cis	cerebellum	SCAN
rs2067418	INPP1	cis	parietal	SCAN
rs2067418	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs2067418	INPP1	cis	cerebellum	SCAN
rs2067418	HIBCH	cis	parietal	SCAN
rs2067418	HIBCH	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
3	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:191219600-191243800	Weak transcription	Gastric	stomach
5	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
6	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
7	chr2:191224200-191230400	Weak transcription	Esophagus	oesophagus
8	chr2:191224400-191227200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:191225000-191227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:191225000-191229400	Weak transcription	Left Ventricle	heart
12	chr2:191225000-191230400	Weak transcription	Lung	lung
13	chr2:191225000-191232000	Weak transcription	Ovary	ovary
14	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
15	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
16	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
18	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
20	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
21	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
22	chr2:191225200-191227200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:191225200-191227600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:191225200-191227800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:191225200-191228600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:191225200-191229400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:191225200-191229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:191225200-191229600	Weak transcription	Adipose Nuclei	Adipose
29	chr2:191225200-191229800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:191225200-191230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:191225200-191230400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:191225200-191230400	Weak transcription	Fetal Stomach	stomach
33	chr2:191225200-191231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:191225200-191231000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:191225200-191231800	Weak transcription	HSMMtube	muscle
36	chr2:191225200-191232000	Weak transcription	HepG2	liver
37	chr2:191225200-191232000	Weak transcription	Osteobl	bone
38	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:191225200-191233800	Weak transcription	NHLF	lung
41	chr2:191225200-191234400	Weak transcription	K562	blood
42	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
47	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
49	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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