Variant report

Variant	rs130287
Chromosome Location	chr22:33216760-33216761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33207504..33210476-chr22:33215716..33217906,2	K562	blood:

Variant related genes	Relation type
ENSG00000197047	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11089594	0.82[AMR][1000 genomes]
rs130269	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130270	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130274	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs130275	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs130276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs130525	0.82[AMR][1000 genomes]
rs130530	0.82[AMR][1000 genomes]
rs130532	0.82[AMR][1000 genomes]
rs130533	0.82[AMR][1000 genomes]
rs130538	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs130548	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs130551	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs130559	1.00[ASW][hapmap];0.87[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs130560	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs135149	0.82[AMR][1000 genomes]
rs1962223	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4821095	0.82[AMR][1000 genomes]
rs4821096	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs5998622	0.82[AMR][1000 genomes]
rs715572	0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs762887	0.80[CEU][hapmap]
rs80269	0.87[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs929013	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs929014	0.80[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs9606993	0.80[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs9609622	0.82[AMR][1000 genomes]
rs9609631	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs130287	INPP5J	cis	cerebellum	SCAN
rs130287	LARGE	cis	parietal	SCAN
rs130287	OSBP2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
2	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:33201600-33226200	Weak transcription	NH-A	brain
4	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:33203200-33223600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:33204600-33220200	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:33205200-33219800	Weak transcription	Brain Angular Gyrus	brain
9	chr22:33206400-33220800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:33206600-33219800	Strong transcription	Osteobl	bone
11	chr22:33206800-33224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:33207000-33217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33207000-33226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:33210800-33216800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:33211000-33218400	Strong transcription	HepG2	liver
16	chr22:33211000-33221400	Genic enhancers	Adipose Nuclei	Adipose
17	chr22:33211000-33225600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:33211000-33225800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
20	chr22:33211200-33217800	Genic enhancers	Fetal Stomach	stomach
21	chr22:33211200-33218800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:33211400-33217200	Weak transcription	Ovary	ovary
23	chr22:33211400-33220600	Weak transcription	Fetal Kidney	kidney
24	chr22:33211800-33218600	Genic enhancers	Placenta	Placenta
25	chr22:33212000-33218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:33212000-33218600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr22:33212000-33218800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:33212200-33216800	Enhancers	Right Atrium	heart
29	chr22:33212200-33217400	Genic enhancers	Stomach Smooth Muscle	stomach
30	chr22:33212200-33217600	Weak transcription	Gastric	stomach
31	chr22:33212200-33219200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:33212400-33220800	Weak transcription	Fetal Intestine Large	intestine
33	chr22:33212600-33222600	Weak transcription	HSMMtube	muscle
34	chr22:33212600-33227000	Weak transcription	Liver	Liver
35	chr22:33213000-33217600	Enhancers	Spleen	Spleen
36	chr22:33213400-33217200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr22:33213600-33227000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:33214200-33216800	Enhancers	Brain Anterior Caudate	brain
39	chr22:33214200-33216800	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr22:33214200-33217200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr22:33214200-33218200	Weak transcription	HSMM	muscle
42	chr22:33214400-33217600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:33214400-33217800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:33214400-33218600	Genic enhancers	Right Ventricle	heart
45	chr22:33214400-33220800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:33214800-33216800	Enhancers	HMEC	breast
47	chr22:33214800-33222600	Weak transcription	Fetal Lung	lung
48	chr22:33215000-33217600	Enhancers	Colon Smooth Muscle	Colon
49	chr22:33215000-33219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:33215000-33219600	Weak transcription	Brain Substantia Nigra	brain

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