Variant report

Variant	rs7584794
Chromosome Location	chr2:191386158-191386159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191385072..191387258-chr2:191388433..191390982,2	K562	blood:
2	chr2:191385869..191388991-chr2:191394619..191398567,3	K562	blood:
3	chr2:191375176..191377648-chr2:191385217..191387688,2	K562	blood:
4	chr2:191384935..191386487-chr2:191391629..191394341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10165897	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10209172	0.98[ASN][1000 genomes]
rs12478437	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12613365	0.85[LWK][hapmap]
rs12693578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019278	0.93[LWK][hapmap];0.81[AFR][1000 genomes]
rs13392968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3811609	0.85[LWK][hapmap]
rs4129697	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4146923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264585	0.85[LWK][hapmap]
rs4324342	0.85[LWK][hapmap]
rs4438514	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4500977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586658	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853509	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853708	0.89[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6707773	0.85[LWK][hapmap]
rs6711006	0.80[AFR][1000 genomes]
rs7585173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7584794	INPP1	cis	parietal	SCAN
rs7584794	HIBCH	cis	parietal	SCAN
rs7584794	MFSD6	cis	lymphoblastoid	seeQTL
rs7584794	INPP1	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
2	chr2:191349600-191394600	Weak transcription	NHLF	lung
3	chr2:191354600-191394600	Weak transcription	HSMM	muscle
4	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
5	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
6	chr2:191365200-191398000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:191365400-191392400	Weak transcription	HepG2	liver
8	chr2:191365800-191397400	Weak transcription	Liver	Liver
9	chr2:191366400-191386400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:191367200-191393000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:191369000-191394400	Weak transcription	Aorta	Aorta
12	chr2:191370800-191394400	Weak transcription	A549	lung
13	chr2:191371000-191393000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:191372000-191394600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:191372200-191394600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:191373800-191390800	Weak transcription	Spleen	Spleen
17	chr2:191374000-191390800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:191374000-191390800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:191375200-191398600	Weak transcription	Ovary	ovary
20	chr2:191376000-191397800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:191377800-191392800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:191377800-191393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:191378000-191393000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:191378400-191392400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:191378400-191393200	Weak transcription	Esophagus	oesophagus
26	chr2:191378400-191394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:191378800-191390800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:191378800-191394400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:191378800-191394400	Weak transcription	Fetal Stomach	stomach
30	chr2:191379200-191389400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:191379200-191390600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:191379200-191392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:191379400-191391800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:191379400-191394000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:191379400-191394000	Weak transcription	Left Ventricle	heart
36	chr2:191379400-191397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:191379400-191398200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:191380200-191393200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:191381600-191394000	Weak transcription	Fetal Lung	lung
40	chr2:191382600-191398400	Weak transcription	Psoas Muscle	Psoas
41	chr2:191383400-191394800	Weak transcription	NHDF-Ad	bronchial
42	chr2:191383800-191386400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:191384000-191386200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:191384000-191386600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:191384200-191386200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:191384200-191386200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:191384400-191386200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:191384400-191386400	Genic enhancers	Dnd41	blood
49	chr2:191384600-191386200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:191385000-191386200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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