Variant report

Variant	rs1128723
Chromosome Location	chr2:191366707-191366708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191271278..191273188-chr2:191365942..191368392,2	K562	blood:
2	chr2:191362419..191364235-chr2:191364760..191367673,2	MCF-7	breast:
3	chr2:191366095..191368854-chr2:191371585..191374379,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MFSD6	hsa-miR-101-3p	chr2:191366685-191366707

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction
MFSD6	miRNA target site

Extended variants
information (count: 54 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10084203	0.80[ASN][1000 genomes]
rs10174174	0.82[ASN][1000 genomes]
rs10188341	0.84[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs10190082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10197348	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs10432434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931458	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11885992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12053190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472081	0.90[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476782	0.84[YRI][hapmap]
rs12477369	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693579	0.93[ASN][1000 genomes]
rs13417431	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16832765	0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2192010	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35818159	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4129082	0.83[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4258824	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[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];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4261750	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4287794	0.87[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4340549	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4371384	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4439990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4641969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4853510	0.98[ASN][1000 genomes]
rs4853710	0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4853713	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4853716	0.98[ASN][1000 genomes]
rs56127319	0.81[EUR][1000 genomes]
rs56342910	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58568707	0.89[EUR][1000 genomes]
rs59929070	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60915953	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61709084	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62180992	0.81[ASN][1000 genomes]
rs62181018	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181019	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181020	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181029	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181034	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181052	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62182865	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62182885	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62182897	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6712426	0.98[ASN][1000 genomes]
rs6727669	0.98[ASN][1000 genomes]
rs6731287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7567059	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7569128	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7581762	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7581986	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7593240	0.80[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1128723	INPP1	cis	cerebellum	SCAN
rs1128723	INPP1	cis	parietal	SCAN
rs1128723	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs1128723	HIBCH	cis	parietal	SCAN
rs1128723	HIBCH	cis	cerebellum	SCAN
rs1128723	MFSD6	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191334200-191370200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
3	chr2:191343000-191372000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:191343400-191373800	Weak transcription	Colonic Mucosa	Colon
5	chr2:191349600-191394600	Weak transcription	NHLF	lung
6	chr2:191351200-191369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:191351200-191373400	Weak transcription	Small Intestine	intestine
8	chr2:191351400-191385400	Weak transcription	NHEK	skin
9	chr2:191352200-191380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:191352400-191381600	Weak transcription	Osteobl	bone
11	chr2:191354600-191394600	Weak transcription	HSMM	muscle
12	chr2:191354800-191369200	Weak transcription	HMEC	breast
13	chr2:191356400-191366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:191356400-191367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:191356400-191368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:191356600-191369800	Weak transcription	Adipose Nuclei	Adipose
17	chr2:191357000-191367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
19	chr2:191358200-191367200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:191358400-191379200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:191359600-191371000	Weak transcription	K562	blood
22	chr2:191359600-191374800	Weak transcription	Fetal Heart	heart
23	chr2:191361000-191376000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:191361600-191370400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:191361600-191379800	Strong transcription	Fetal Thymus	thymus
26	chr2:191361800-191375800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:191361800-191376000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:191362000-191371200	Strong transcription	Primary B cells from cord blood	blood
29	chr2:191362000-191371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:191362000-191374000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:191362000-191375200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:191362000-191375400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:191362000-191375400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:191362000-191375400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:191362200-191369000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:191362200-191371200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:191362200-191379200	Strong transcription	Dnd41	blood
38	chr2:191362400-191369000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:191362400-191369400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:191362400-191370200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
42	chr2:191363000-191374800	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:191363200-191372000	Weak transcription	Psoas Muscle	Psoas
44	chr2:191363600-191368400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:191363600-191374200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:191364000-191367800	Genic enhancers	Brain Hippocampus Middle	brain
47	chr2:191364000-191372000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:191364000-191374000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:191364200-191367600	Enhancers	Stomach Mucosa	stomach
50	chr2:191364200-191369800	Strong transcription	Rectal Mucosa Donor 29	rectum

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