Variant report

Variant	rs62535381
Chromosome Location	chr8:99614432-99614433
allele	C/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	SP1	chr8:99613583-99614689	HCT-116	colon:	n/a	n/a
2	FOS	chr8:99614355-99614757	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:99614370-99614791	MCF10A-Er-Src	breast:	n/a	n/a
4	SRF	chr8:99613542-99614946	HCT-116	colon:	n/a	n/a
5	MYC	chr8:99614407-99614769	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr8:99613667-99614820	IMR90	lung:	n/a	n/a
7	POLR2A	chr8:99614350-99614649	MCF10A-Er-Src	breast:	n/a	n/a
8	SRF	chr8:99613673-99614851	HCT-116	colon:	n/a	n/a
9	CEBPB	chr8:99613594-99614736	HCT-116	colon:	n/a	n/a
10	SRF	chr8:99614418-99614857	ECC-1	luminal epithelium:	n/a	n/a
11	FOS	chr8:99613612-99614848	MCF10A-Er-Src	breast:	n/a	chr8:99613938-99613949

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99607382..99608915-chr8:99611725..99614614,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPAL2-3	chr8:99614407-99614504	NONHSAT127930

Variant related genes	Relation type
ENSG00000253911	TF binding region
STK3	TF binding region
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10447977	0.82[AMR][1000 genomes]
rs10755896	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10755897	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10955186	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955187	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955188	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955189	0.81[AMR][1000 genomes]
rs10955190	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11774463	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775055	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11780292	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11780369	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12542069	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542758	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547297	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12549803	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12550783	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12677183	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679268	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12679734	0.84[AMR][1000 genomes]
rs12680195	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680490	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680602	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258214	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13269932	0.82[AMR][1000 genomes]
rs13271844	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13275372	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13275915	0.80[AMR][1000 genomes]
rs13279438	0.80[AMR][1000 genomes]
rs34114299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34281206	0.82[AMR][1000 genomes]
rs34477118	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34855977	0.81[AMR][1000 genomes]
rs35447893	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35536167	0.82[AMR][1000 genomes]
rs4131873	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4255105	0.84[AMR][1000 genomes]
rs4279561	0.80[AMR][1000 genomes]
rs4440607	0.80[AMR][1000 genomes]
rs4442112	0.90[ASN][1000 genomes]
rs4509292	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4517094	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4549741	0.80[AMR][1000 genomes]
rs4734410	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4735568	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735569	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735570	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735571	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735574	0.81[AMR][1000 genomes]
rs57034072	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62532577	0.80[AMR][1000 genomes]
rs62535382	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62535383	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62535404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62535408	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535410	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535412	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6651182	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67186645	0.89[ASN][1000 genomes]
rs6992925	0.84[AMR][1000 genomes]
rs7016626	0.85[ASN][1000 genomes]
rs7818010	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656842	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:99602800-99615000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:99602800-99622800	Weak transcription	Esophagus	oesophagus
6	chr8:99603000-99616000	Weak transcription	Fetal Stomach	stomach
7	chr8:99603000-99635600	Weak transcription	Lung	lung
8	chr8:99606600-99615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:99606800-99616200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:99606800-99635800	Weak transcription	Aorta	Aorta
11	chr8:99606800-99637400	Weak transcription	Ovary	ovary
12	chr8:99608400-99616600	Weak transcription	Liver	Liver
13	chr8:99610400-99615600	Enhancers	HMEC	breast
14	chr8:99611000-99616200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99611800-99639800	Weak transcription	Small Intestine	intestine
16	chr8:99612600-99618600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:99613000-99615600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:99613200-99615400	Enhancers	GM12878-XiMat	blood
19	chr8:99613400-99614800	Flanking Active TSS	NHEK	skin
20	chr8:99613600-99614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:99613600-99614800	Enhancers	NHDF-Ad	bronchial
22	chr8:99614000-99614600	Enhancers	Hela-S3	cervix
23	chr8:99614000-99614800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:99614000-99614800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:99614200-99615000	Weak transcription	Osteobl	bone
26	chr8:99614200-99615200	Enhancers	A549	lung
27	chr8:99614200-99616600	Weak transcription	K562	blood
28	chr8:99614400-99614600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:99614400-99615200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:99614400-99624800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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