Variant report

Variant	rs2291316
Chromosome Location	chr10:118594289-118594290
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	chr10:118588963..118590591-chr10:118593090..118595906,2	K562	blood:
2	chr10:118564030..118565650-chr10:118593409..118595052,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10787730	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10886014	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11591751	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11596173	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1614092	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1626678	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1637556	0.82[ASN][1000 genomes]
rs1637558	0.85[ASN][1000 genomes]
rs1681721	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1681723	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1681725	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681748	0.89[ASN][1000 genomes]
rs2531687	0.86[CHB][hapmap]
rs4752013	0.85[ASN][1000 genomes]
rs726525	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740363	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9420210	0.85[ASN][1000 genomes]
rs9421242	0.85[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2291316	MAEL	trans	cerebellum	SCAN
rs2291316	INPP5F	cis	parietal	SCAN
rs2291316	DKFZp781N1041	cis	multi-tissue	Pritchard
rs2291316	KIAA1598	cis	multi-tissue	Pritchard

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118578200-118598000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:118578600-118595000	Weak transcription	Ovary	ovary
3	chr10:118580400-118597000	Weak transcription	Gastric	stomach
4	chr10:118580800-118596600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:118581400-118595800	Weak transcription	Esophagus	oesophagus
6	chr10:118582800-118594600	Weak transcription	Aorta	Aorta
7	chr10:118585400-118594800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:118587200-118594400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:118587200-118595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:118587200-118598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:118587400-118607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:118587800-118598600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:118590800-118607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:118591000-118597600	Weak transcription	Liver	Liver
15	chr10:118591000-118597800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:118592400-118595400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:118592400-118597200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:118592600-118594600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr10:118592600-118596600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:118592600-118600600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:118592800-118595200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:118593000-118595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:118593200-118595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:118593200-118595400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:118593200-118596600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr10:118593200-118599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:118593400-118594600	Genic enhancers	Brain Cingulate Gyrus	brain
28	chr10:118593400-118595400	Enhancers	Fetal Thymus	thymus
29	chr10:118593400-118596200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:118593600-118594800	Enhancers	Brain Hippocampus Middle	brain
31	chr10:118593600-118595000	Enhancers	Brain Angular Gyrus	brain
32	chr10:118593800-118594400	Enhancers	Brain Substantia Nigra	brain
33	chr10:118593800-118595000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr10:118593800-118595400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:118593800-118595400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:118593800-118596600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr10:118593800-118607600	Weak transcription	Pancreas	Pancrea
38	chr10:118594000-118595000	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr10:118594000-118595200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr10:118594000-118595400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:118594000-118598400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:118594000-118600200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:118594200-118594400	Enhancers	Brain Anterior Caudate	brain
44	chr10:118594200-118595200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr10:118594200-118596000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr10:118594200-118596800	Weak transcription	Fetal Intestine Small	intestine

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