Variant report

Variant	rs130275
Chromosome Location	chr22:33204987-33204988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32284948-32287956..22:33190123-33206921	K562	blood:
2	22:32846948-32860159..22:33190123-33206921	K562	blood:
3	chr22:33192924..33193438-chr22:33204502..33205172,2	MCF-7	breast:
4	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000184459	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];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130270	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130274	0.95[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs130276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130287	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]
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];0.91[EUR][1000 genomes]
rs130551	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs130559	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs130560	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs135149	0.82[AMR][1000 genomes]
rs1962223	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][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	0.84[CHD][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs762887	0.80[CEU][hapmap]
rs80269	0.87[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs929013	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs929014	0.80[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs9606993	0.80[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs9609622	0.82[AMR][1000 genomes]
rs9609631	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs130275	INPP5J	cis	cerebellum	SCAN
rs130275	OSBP2	cis	cerebellum	SCAN
rs130275	LARGE	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
2	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:33200600-33215200	Weak transcription	NHEK	skin
4	chr22:33201000-33205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:33201000-33207200	Enhancers	Fetal Intestine Large	intestine
6	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
7	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
9	chr22:33201200-33206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:33201200-33206400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:33201200-33211800	Weak transcription	Gastric	stomach
12	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:33201400-33205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:33201400-33205800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:33201400-33208800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:33201600-33206000	Weak transcription	Fetal Thymus	thymus
17	chr22:33201600-33206200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:33201600-33208000	Genic enhancers	Fetal Stomach	stomach
19	chr22:33201600-33226200	Weak transcription	NH-A	brain
20	chr22:33201800-33206600	Genic enhancers	Osteobl	bone
21	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:33202600-33206200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:33202600-33206200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:33202600-33206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:33202600-33206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33202600-33206400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:33202600-33206600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:33202600-33207000	Enhancers	Fetal Intestine Small	intestine
29	chr22:33202600-33211200	Weak transcription	Esophagus	oesophagus
30	chr22:33202600-33211800	Weak transcription	Brain Substantia Nigra	brain
31	chr22:33202800-33205800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:33203200-33223600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:33204000-33205000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:33204000-33205000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:33204000-33205000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr22:33204000-33205000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr22:33204000-33205000	Strong transcription	HSMM	muscle
38	chr22:33204000-33205200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:33204000-33205200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:33204000-33205200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:33204000-33205200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:33204000-33205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:33204000-33205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:33204000-33205200	Enhancers	Brain Angular Gyrus	brain
45	chr22:33204000-33205200	Genic enhancers	Placenta	Placenta
46	chr22:33204000-33205400	Enhancers	Fetal Lung	lung
47	chr22:33204000-33205800	Enhancers	Fetal Heart	heart
48	chr22:33204000-33206000	Genic enhancers	Spleen	Spleen
49	chr22:33204000-33207000	Genic enhancers	Fetal Muscle Leg	muscle
50	chr22:33204000-33208000	Genic enhancers	HepG2	liver

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