Variant report

Variant	rs12471159
Chromosome Location	chr2:191232131-191232132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11544940	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693568	0.93[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1530225	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1530226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067434	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[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];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067446	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582736	1.00[JPT][hapmap]
rs291430	0.83[ASN][1000 genomes]
rs291445	1.00[JPT][hapmap]
rs291447	1.00[JPT][hapmap]
rs291449	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs291458	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs291460	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs291468	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs35277625	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs56044907	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434387	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6730620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590991	0.88[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs909270	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909272	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12471159	INPP1	cis	lymphoblastoid	seeQTL
rs12471159	INPP1	cis	cerebellum	SCAN
rs12471159	HIBCH	cis	lymphoblastoid	seeQTL
rs12471159	HIBCH	cis	Muscle Skeletal	GTEx
rs12471159	INPP1	cis	parietal	SCAN
rs12471159	HIBCH	cis	parietal	SCAN
rs12471159	HIBCH	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:191219600-191243800	Weak transcription	Gastric	stomach
4	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
5	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
6	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
8	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
9	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
11	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
13	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
14	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
15	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:191225200-191233800	Weak transcription	NHLF	lung
18	chr2:191225200-191234400	Weak transcription	K562	blood
19	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
24	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
26	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:191225200-191236600	Weak transcription	NH-A	brain
30	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
32	chr2:191225200-191237000	Weak transcription	HMEC	breast
33	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:191225200-191238200	Weak transcription	NHEK	skin
36	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
37	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
38	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:191225400-191232200	Weak transcription	Primary B cells from cord blood	blood
40	chr2:191225400-191236200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:191225400-191237200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:191225400-191239200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:191225600-191232400	Weak transcription	NHDF-Ad	bronchial
44	chr2:191225800-191234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:191226000-191232400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:191226000-191232800	Weak transcription	HSMM	muscle
47	chr2:191226000-191237000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:191226400-191236000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:191226600-191235400	Weak transcription	Primary T cells from cord blood	blood
50	chr2:191226600-191237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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