Variant report

Variant	rs7567059
Chromosome Location	chr2:191332169-191332170
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:191331616-191332179	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr2:191331477-191332173	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr2:191331495-191332186	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr2:191331497-191332192	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MFSD6	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10084203	0.81[ASN][1000 genomes]
rs10174174	0.82[ASN][1000 genomes]
rs10188341	0.80[ASN][1000 genomes]
rs10190082	0.98[ASN][1000 genomes]
rs10432434	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931458	0.98[ASN][1000 genomes]
rs1128723	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11885992	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12052514	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053190	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470863	0.80[ASN][1000 genomes]
rs12472081	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477369	0.82[ASN][1000 genomes]
rs12693579	0.94[ASN][1000 genomes]
rs13417431	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16832765	0.81[ASN][1000 genomes]
rs2192010	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35818159	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4129082	0.81[ASN][1000 genomes]
rs4258824	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261750	0.81[ASN][1000 genomes]
rs4287794	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4340549	0.98[ASN][1000 genomes]
rs4371384	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4439990	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4641969	0.98[ASN][1000 genomes]
rs4853510	0.98[ASN][1000 genomes]
rs4853710	0.86[ASN][1000 genomes]
rs4853716	0.98[ASN][1000 genomes]
rs56127319	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56342910	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58568707	0.83[EUR][1000 genomes]
rs59929070	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60915953	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61709084	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62180992	0.82[ASN][1000 genomes]
rs62181018	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181019	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181020	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62181029	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181034	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62181052	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62182865	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182885	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62182897	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6712426	0.98[ASN][1000 genomes]
rs6727669	0.98[ASN][1000 genomes]
rs6731287	0.98[ASN][1000 genomes]
rs7569128	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7581762	0.81[ASN][1000 genomes]
rs7581986	0.81[ASN][1000 genomes]
rs7593240	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7567059	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
3	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
6	chr2:191322600-191335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:191323000-191334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:191323200-191332400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:191323200-191335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:191323400-191333600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:191324600-191332400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:191325400-191332600	Weak transcription	Gastric	stomach
13	chr2:191325600-191335800	Weak transcription	Lung	lung
14	chr2:191325600-191346200	Weak transcription	Right Ventricle	heart
15	chr2:191327600-191353000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:191327800-191332200	Weak transcription	Aorta	Aorta
17	chr2:191327800-191332200	Weak transcription	Spleen	Spleen
18	chr2:191328800-191332800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:191328800-191334400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:191328800-191334600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:191329400-191332200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:191329400-191332600	Weak transcription	Fetal Thymus	thymus
23	chr2:191329600-191334600	Weak transcription	Thymus	Thymus
24	chr2:191330000-191332600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:191330000-191334800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:191330200-191332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:191330200-191334800	Enhancers	K562	blood
28	chr2:191330400-191332600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:191330600-191333000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:191330600-191335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:191330800-191332600	Strong transcription	Dnd41	blood
32	chr2:191330800-191333800	Enhancers	Brain Hippocampus Middle	brain
33	chr2:191330800-191334800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:191330800-191335400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:191330800-191335400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:191331000-191332200	Enhancers	Small Intestine	intestine
37	chr2:191331000-191333400	Enhancers	HepG2	liver
38	chr2:191331000-191333600	Enhancers	A549	lung
39	chr2:191331000-191334400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:191331000-191334800	Enhancers	NHDF-Ad	bronchial
41	chr2:191331000-191335000	Enhancers	Brain Substantia Nigra	brain
42	chr2:191331000-191335200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:191331000-191335400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:191331000-191335400	Enhancers	Hela-S3	cervix
45	chr2:191331000-191335400	Enhancers	Osteobl	bone
46	chr2:191331200-191333000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:191331200-191335400	Enhancers	NHLF	lung
48	chr2:191331200-191335600	Enhancers	Fetal Lung	lung
49	chr2:191331400-191333800	Enhancers	Right Atrium	heart
50	chr2:191331400-191333800	Enhancers	Sigmoid Colon	Sigmoid Colon

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