Variant report

Variant	rs11880364
Chromosome Location	chr19:35988794-35988795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35988566-35988795	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:35988660-35988810	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35988445..35991063-chr19:35995324..35997117,2	MCF-7	breast:
2	chr19:35988209..35991439-chr19:35991792..35995590,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMKN-1	chr19:35988549-35988835	NONHSAT065846

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10410228	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10414731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs10421540	0.95[EUR][1000 genomes]
rs10425364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10426552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17638216	1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.96[EUR][1000 genomes]
rs17705450	0.96[EUR][1000 genomes]
rs55981709	0.83[ASN][1000 genomes]
rs59551721	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62111717	0.96[EUR][1000 genomes]
rs6510489	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7253910	0.80[CEU][hapmap];0.95[EUR][1000 genomes]
rs7976	1.00[CEU][hapmap];0.82[MEX][hapmap];0.94[EUR][1000 genomes]
rs8103133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8106676	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107732	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973222	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35986400-35989400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:35986400-35989800	Weak transcription	Aorta	Aorta
3	chr19:35986400-35992400	Weak transcription	Brain Anterior Caudate	brain
4	chr19:35986400-35994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
8	chr19:35986600-35989600	Weak transcription	Fetal Intestine Large	intestine
9	chr19:35986600-35992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:35986600-35993800	Weak transcription	Spleen	Spleen
11	chr19:35986800-35988800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:35986800-35989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:35986800-35989400	Weak transcription	Pancreas	Pancrea
14	chr19:35986800-35989400	Weak transcription	NHEK	skin
15	chr19:35986800-35989600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:35986800-35989600	Weak transcription	Lung	lung
17	chr19:35986800-35989600	Weak transcription	Ovary	ovary
18	chr19:35986800-35989800	Weak transcription	Liver	Liver
19	chr19:35986800-35989800	Weak transcription	HMEC	breast
20	chr19:35986800-35991200	Weak transcription	Esophagus	oesophagus
21	chr19:35986800-35991600	Weak transcription	Fetal Lung	lung
22	chr19:35986800-35992000	Weak transcription	GM12878-XiMat	blood
23	chr19:35986800-35992600	Weak transcription	Brain Angular Gyrus	brain
24	chr19:35986800-35995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:35986800-36000200	Weak transcription	Gastric	stomach
27	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr19:35987000-35989000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:35987000-35990400	Weak transcription	HepG2	liver
30	chr19:35987000-35990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:35987000-35992200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:35987800-35992200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:35987800-35998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:35988000-35992600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:35988000-35992800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:35988000-35998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:35988000-35999000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:35988000-35999200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:35988200-35990200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:35988200-35996600	Strong transcription	Fetal Intestine Small	intestine
41	chr19:35988200-35997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:35988200-35998400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:35988200-35999000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr19:35988600-35989800	Weak transcription	K562	blood
45	chr19:35988600-35995200	Strong transcription	Fetal Stomach	stomach

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