Variant report

Variant	rs8107802
Chromosome Location	chr19:41722613-41722614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41716315..41718044-chr19:41721486..41723703,2	K562	blood:
2	chr19:41721909..41723433-chr19:41725418..41727202,2	K562	blood:

Variant related genes	Relation type
ENSG00000167601	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12984631	0.85[ASN][1000 genomes]
rs1709078	0.85[ASN][1000 genomes]
rs1709104	0.88[ASN][1000 genomes]
rs1709106	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1709139	0.85[ASN][1000 genomes]
rs28364580	0.96[EUR][1000 genomes]
rs3097901	0.83[ASN][1000 genomes]
rs338584	0.81[EUR][1000 genomes]
rs8101017	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8101985	0.85[ASN][1000 genomes]
rs8192798	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41707800-41723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:41713000-41722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:41713200-41724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:41713400-41723800	Weak transcription	Esophagus	oesophagus
8	chr19:41713600-41723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:41713800-41723800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:41713800-41723800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:41713800-41724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:41713800-41724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:41713800-41724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:41714000-41724400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:41714400-41722800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:41714600-41722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:41714600-41723600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:41714600-41724400	Weak transcription	Fetal Intestine Small	intestine
19	chr19:41714800-41724200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:41720200-41723800	Weak transcription	NHEK	skin
21	chr19:41720200-41724200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:41720400-41723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:41721800-41724400	Weak transcription	K562	blood
24	chr19:41722000-41723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:41722200-41723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:41722200-41723800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr19:41722200-41723800	Enhancers	Fetal Muscle Trunk	muscle
28	chr19:41722400-41723000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:41722400-41723000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:41722400-41723200	Enhancers	Adipose Nuclei	Adipose
31	chr19:41722400-41723200	Enhancers	Fetal Muscle Leg	muscle
32	chr19:41722400-41723200	Enhancers	HSMMtube	muscle
33	chr19:41722400-41724000	Bivalent Enhancer	Brain Hippocampus Middle	brain
34	chr19:41722400-41724400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:41722400-41724400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:41722400-41724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:41722400-41724400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr19:41722400-41724400	Enhancers	NHDF-Ad	bronchial
39	chr19:41722600-41722800	Enhancers	HepG2	liver
40	chr19:41722600-41723000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41722600-41723000	Enhancers	Brain Germinal Matrix	brain
42	chr19:41722600-41723000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr19:41722600-41723000	Enhancers	HSMM	muscle
44	chr19:41722600-41723200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:41722600-41723200	Enhancers	NHLF	lung
46	chr19:41722600-41723200	Enhancers	Osteobl	bone
47	chr19:41722600-41724200	Weak transcription	Colonic Mucosa	Colon
48	chr19:41722600-41724200	Enhancers	A549	lung
49	chr19:41722600-41724400	Enhancers	Fetal Lung	lung

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