Variant report

Variant	rs7844932
Chromosome Location	chr8:95883232-95883233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10956927	0.96[GIH][hapmap]
rs11775475	0.82[YRI][hapmap]
rs11775899	0.92[EUR][1000 genomes]
rs11776830	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11778250	0.87[EUR][1000 genomes]
rs11778553	0.88[GIH][hapmap]
rs11779041	0.92[EUR][1000 genomes]
rs11782617	0.96[GIH][hapmap]
rs11782818	0.92[GIH][hapmap]
rs11783878	0.92[GIH][hapmap]
rs11783941	0.85[CEU][hapmap];0.91[YRI][hapmap];0.91[EUR][1000 genomes]
rs11784299	0.96[GIH][hapmap]
rs16893774	0.92[GIH][hapmap]
rs16917079	0.96[GIH][hapmap]
rs16917081	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs16917093	0.85[CEU][hapmap]
rs16917102	0.80[ASW][hapmap];0.95[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs16917106	0.87[ASW][hapmap];0.85[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.91[YRI][hapmap];0.91[EUR][1000 genomes]
rs16917117	0.92[GIH][hapmap]
rs2305466	1.00[CHB][hapmap]
rs28399553	0.92[GIH][hapmap]
rs3802191	0.92[GIH][hapmap]
rs4345531	0.92[EUR][1000 genomes]
rs6471496	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs6986418	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs6989591	0.96[GIH][hapmap]
rs7009940	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs716733	0.87[ASW][hapmap];0.85[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.91[YRI][hapmap];0.91[EUR][1000 genomes]
rs73269162	0.82[EUR][1000 genomes]
rs73269170	0.92[EUR][1000 genomes]
rs73269191	0.92[EUR][1000 genomes]
rs7834966	0.96[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7844932	MATN2	cis	parietal	SCAN
rs7844932	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
7	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
9	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
11	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
14	chr8:95871400-95889600	Weak transcription	NHLF	lung
15	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
16	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
18	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
19	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:95874200-95883400	Strong transcription	Liver	Liver
21	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:95874600-95884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:95874600-95886000	Strong transcription	Left Ventricle	heart
34	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:95874800-95886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:95875400-95887600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:95875600-95885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:95875600-95893200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:95875600-95894400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
42	chr8:95875800-95883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:95875800-95884800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:95875800-95885000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:95876200-95886400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:95876400-95886000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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