Variant report

Variant	rs7822495
Chromosome Location	chr8:19677915-19677916
allele	A/G
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	MAFF	chr8:19677648-19677994	HepG2	liver:	n/a	chr8:19677816-19677834
2	MAFK	chr8:19677664-19677993	K562	blood:	n/a	chr8:19677817-19677832
3	MAFF	chr8:19677650-19677990	K562	blood:	n/a	chr8:19677816-19677834
4	MAFK	chr8:19677642-19677993	IMR90	lung:	n/a	chr8:19677817-19677832
5	MAFK	chr8:19677631-19678003	HepG2	liver:	n/a	chr8:19677817-19677832
6	MAFK	chr8:19677667-19677933	Hela-S3	cervix:	n/a	chr8:19677817-19677832
7	POLR2A	chr8:19674362-19680077	K562	blood:	n/a	n/a
8	MAFK	chr8:19677641-19677993	HepG2	liver:	n/a	chr8:19677817-19677832

No.	Distal block	Cell Line	Cell type
1	chr8:19169628..19172105-chr8:19676058..19678927,2	MCF-7	breast:
2	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
3	chr8:19665994..19668297-chr8:19676557..19678273,2	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction
ENSG00000104611	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10090615	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs1492639	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs17091534	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28413168	0.91[EUR][1000 genomes]
rs3899017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4922101	0.82[EUR][1000 genomes]
rs57462676	0.96[ASN][1000 genomes]
rs57837509	0.96[ASN][1000 genomes]
rs59259846	0.96[ASN][1000 genomes]
rs59565447	0.96[ASN][1000 genomes]
rs60369789	1.00[ASN][1000 genomes]
rs61180388	0.95[ASN][1000 genomes]
rs62496731	0.94[ASN][1000 genomes]
rs67989257	0.94[ASN][1000 genomes]
rs6981306	0.91[ASN][1000 genomes]
rs6981674	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6993525	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7005767	0.85[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs7012358	0.94[ASN][1000 genomes]
rs73667432	0.82[EUR][1000 genomes]
rs7461774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7832638	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7822495	INTS10	cis	parietal	SCAN
rs7822495	INTS10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19678000	Weak transcription	Spleen	Spleen
2	chr8:19676000-19678400	Weak transcription	Thymus	Thymus
3	chr8:19676000-19678600	Weak transcription	Esophagus	oesophagus
4	chr8:19676000-19678800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19676000-19678800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:19676000-19678800	Weak transcription	Aorta	Aorta
7	chr8:19676000-19678800	Weak transcription	Gastric	stomach
8	chr8:19676000-19678800	Weak transcription	Pancreas	Pancrea
9	chr8:19676000-19681000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:19676000-19683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:19676000-19689600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:19676200-19678000	Weak transcription	Fetal Stomach	stomach
15	chr8:19676400-19678200	Weak transcription	Fetal Kidney	kidney
16	chr8:19676400-19678800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:19676400-19680400	Weak transcription	Small Intestine	intestine
18	chr8:19676400-19680600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:19676400-19680600	Weak transcription	Fetal Brain Male	brain
20	chr8:19676400-19683800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:19676400-19684600	Weak transcription	Right Ventricle	heart
22	chr8:19676400-19689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:19676600-19678400	Weak transcription	Brain Germinal Matrix	brain
24	chr8:19676600-19678800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:19676600-19679600	Strong transcription	NHEK	skin
26	chr8:19676600-19680200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:19676600-19681000	Weak transcription	Fetal Heart	heart
28	chr8:19676600-19705800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:19676600-19707800	Strong transcription	Osteobl	bone
31	chr8:19676800-19679400	Genic enhancers	A549	lung
32	chr8:19676800-19682600	Strong transcription	Fetal Lung	lung
33	chr8:19676800-19685000	Strong transcription	K562	blood
34	chr8:19676800-19685200	Strong transcription	HMEC	breast
35	chr8:19676800-19686800	Strong transcription	Hela-S3	cervix
36	chr8:19676800-19702400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:19677000-19683000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:19677000-19686800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:19677000-19694800	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:19677000-19700400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:19677000-19701200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:19677000-19703800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:19677200-19678000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:19677200-19678000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:19677200-19678600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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