Variant report

Variant	rs8100640
Chromosome Location	chr19:35992691-35992692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35992519-35992857	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:35992546-35993434	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:35992406-35993045	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:35992231-35993312	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:35992428-35992883	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:35992629-35992869	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:35992530-35992764	H1-hESC	embryonic stem cell:	n/a	n/a
8	ESR1	chr19:35992155-35992873	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF263	chr19:35992441-35993108	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr19:35992126-35993283	H1-hESC	embryonic stem cell:	n/a	n/a
11	ESR1	chr19:35992150-35992770	ECC-1	luminal epithelium:	n/a	n/a
12	HMGN3	chr19:35992625-35992800	K562	blood:	n/a	n/a
13	POLR2A	chr19:35992568-35992859	HCT-116	colon:	n/a	n/a
14	ESR1	chr19:35992128-35992892	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr19:35992690-35992723	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35990632..35993520-chr19:36000182..36002050,2	MCF-7	breast:
2	chr19:35988209..35991439-chr19:35991792..35995590,3	MCF-7	breast:
3	chr19:35991484..35996459-chr19:35997926..36003071,7	MCF-7	breast:
4	chr19:35991475..35994230-chr19:35996710..35999292,3	MCF-7	breast:

No data

Variant related genes	Relation type
DMKN	TF binding region
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11666154	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008189	0.87[EUR][1000 genomes]
rs2293693	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293694	0.88[ASN][1000 genomes]
rs2293695	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293698	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv978907	chr19:35987077-35993083	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35986400-35994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
5	chr19:35986600-35993800	Weak transcription	Spleen	Spleen
6	chr19:35986800-35995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:35986800-36000200	Weak transcription	Gastric	stomach
9	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:35987800-35998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:35988000-35992800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:35988000-35998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:35988000-35999000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:35988000-35999200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:35988200-35996600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:35988200-35997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:35988200-35998400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:35988200-35999000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr19:35988600-35995200	Strong transcription	Fetal Stomach	stomach
20	chr19:35988800-35998600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr19:35989000-35993200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:35989400-35992800	Strong transcription	NHEK	skin
23	chr19:35989400-35997600	Strong transcription	Pancreas	Pancrea
24	chr19:35989400-35998800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:35989600-35999200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:35990200-35997000	Weak transcription	Fetal Intestine Large	intestine
27	chr19:35990200-36000400	Weak transcription	Lung	lung
28	chr19:35991000-36000200	Weak transcription	Ovary	ovary
29	chr19:35991200-35992800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:35991200-36000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:35992000-35993000	Enhancers	GM12878-XiMat	blood
32	chr19:35992000-35996000	Weak transcription	Esophagus	oesophagus
33	chr19:35992200-35993400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr19:35992200-35994200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:35992200-36000400	Weak transcription	Aorta	Aorta
36	chr19:35992400-35992800	Active TSS	Brain Anterior Caudate	brain
37	chr19:35992400-35993000	Bivalent Enhancer	Placenta	Placenta
38	chr19:35992400-35996000	Weak transcription	HepG2	liver
39	chr19:35992600-35992800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:35992600-35992800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:35992600-35992800	Enhancers	Hela-S3	cervix
42	chr19:35992600-35993000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:35992600-35993000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:35992600-35993000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:35992600-35993200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:35992600-35993200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
47	chr19:35992600-35993200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr19:35992600-35993200	Genic enhancers	HMEC	breast

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