Variant report

Variant	rs8107732
Chromosome Location	chr19:35993919-35993920
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35993648-35994110	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr19:35993694-35993940	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:35993491-35994358	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:35993713-35994205	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:35993696-35994260	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:35993683-35994156	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:35993695-35994045	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35989496..35991210-chr19:35992693..35995113,2	K562	blood:
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10410228	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10414731	0.85[ASN][1000 genomes]
rs10421540	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11880364	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17638216	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17705450	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59551721	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111717	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6510489	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7253910	0.91[EUR][1000 genomes]
rs7976	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8106676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973222	0.90[EUR][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	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

No data

Chromatin state (count:44 , 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	chr19:35986800-35995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:35986800-36000200	Weak transcription	Gastric	stomach
8	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:35987800-35998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:35988000-35998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:35988000-35999000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:35988000-35999200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:35988200-35996600	Strong transcription	Fetal Intestine Small	intestine
14	chr19:35988200-35997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:35988200-35998400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:35988200-35999000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr19:35988600-35995200	Strong transcription	Fetal Stomach	stomach
18	chr19:35988800-35998600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr19:35989400-35997600	Strong transcription	Pancreas	Pancrea
20	chr19:35989400-35998800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:35989600-35999200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:35990200-35997000	Weak transcription	Fetal Intestine Large	intestine
23	chr19:35990200-36000400	Weak transcription	Lung	lung
24	chr19:35991000-36000200	Weak transcription	Ovary	ovary
25	chr19:35991200-36000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:35992000-35996000	Weak transcription	Esophagus	oesophagus
27	chr19:35992200-35994200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:35992200-36000400	Weak transcription	Aorta	Aorta
29	chr19:35992400-35996000	Weak transcription	HepG2	liver
30	chr19:35992800-35994000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:35992800-35994000	Genic enhancers	NHEK	skin
32	chr19:35992800-35995400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:35992800-35999000	Weak transcription	Hela-S3	cervix
34	chr19:35993000-35994200	Enhancers	Right Ventricle	heart
35	chr19:35993200-35994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:35993200-35997000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:35993200-35997200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:35993200-35999200	Strong transcription	HMEC	breast
39	chr19:35993200-35999400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:35993200-35999600	Weak transcription	Brain Anterior Caudate	brain
41	chr19:35993400-36000000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:35993400-36000200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:35993800-35994000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr19:35993800-35994200	Enhancers	Fetal Heart	heart

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