Variant report

Variant	rs8192798
Chromosome Location	chr19:41712941-41712942
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41712465..41714278-chr19:41772722..41775237,2	K562	blood:
2	chr19:41711877..41715272-chr19:41724756..41728311,4	K562	blood:
3	chr19:41712694..41714590-chr19:41730675..41733383,2	K562	blood:
4	chr19:41710579..41716236-chr19:41767651..41773158,11	K562	blood:
5	chr19:41709626..41713446-chr19:41767553..41770209,4	MCF-7	breast:
6	chr19:41711943..41714623-chr19:41813301..41815470,3	MCF-7	breast:
7	chr19:41708734..41715779-chr19:41765259..41771124,12	K562	blood:
8	chr19:41712774..41714321-chr19:41815387..41817500,2	K562	blood:
9	chr19:41712333..41715272-chr19:41724873..41727536,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167601	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000269652	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1623906	0.82[ASN][1000 genomes]
rs28364580	0.83[EUR][1000 genomes]
rs338583	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs338584	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8101017	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8107802	0.83[EUR][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	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41700600-41714600	Weak transcription	Spleen	Spleen
6	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
9	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:41702800-41713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:41702800-41713800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:41703000-41714600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr19:41705400-41713200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:41706400-41713800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:41707000-41713800	Strong transcription	Fetal Intestine Large	intestine
20	chr19:41707800-41723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:41710200-41716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:41710400-41722400	Weak transcription	HepG2	liver
23	chr19:41710600-41713000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:41710800-41713600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr19:41711000-41713400	Strong transcription	Fetal Stomach	stomach
26	chr19:41711000-41713800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr19:41711200-41713600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:41711400-41713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:41711400-41713400	Strong transcription	Esophagus	oesophagus
30	chr19:41711400-41713800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:41711400-41713800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:41711600-41713000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr19:41711600-41713600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:41711600-41713600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:41711800-41713000	Strong transcription	Lung	lung
36	chr19:41711800-41713200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:41711800-41713400	Genic enhancers	Stomach Mucosa	stomach
38	chr19:41711800-41713400	Strong transcription	NHEK	skin
39	chr19:41711800-41713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:41711800-41713800	Enhancers	HSMM	muscle
41	chr19:41712000-41713200	Enhancers	K562	blood
42	chr19:41712000-41713200	Enhancers	NHDF-Ad	bronchial
43	chr19:41712000-41713400	Genic enhancers	NHLF	lung
44	chr19:41712000-41713600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:41712000-41713800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:41712000-41713800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr19:41712000-41713800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:41712000-41713800	Enhancers	Osteobl	bone
49	chr19:41712200-41713800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:41712400-41713800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links