Variant report

Variant	rs1820647
Chromosome Location	chr5:74922737-74922738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74912024..74914449-chr5:74921744..74924749,4	K562	blood:
2	chr5:74912024..74914449-chr5:74922011..74924010,2	K562	blood:
3	chr5:74919304..74922816-chr5:74930966..74933826,3	K562	blood:

Variant related genes	Relation type
ENSG00000189045	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004201	1.00[EUR][1000 genomes]
rs1363460	1.00[EUR][1000 genomes]
rs16872663	1.00[EUR][1000 genomes]
rs3097154	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3889900	1.00[EUR][1000 genomes]
rs5744573	1.00[EUR][1000 genomes]
rs5744574	1.00[EUR][1000 genomes]
rs5744590	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5744607	1.00[CEU][hapmap]
rs5744614	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5744690	1.00[CEU][hapmap]
rs5744702	1.00[EUR][1000 genomes]
rs58548840	1.00[EUR][1000 genomes]
rs58900885	1.00[EUR][1000 genomes]
rs59896135	1.00[EUR][1000 genomes]
rs6885301	1.00[EUR][1000 genomes]
rs7708710	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74913800-74922800	Weak transcription	Ovary	ovary
3	chr5:74913800-74923600	Weak transcription	Esophagus	oesophagus
4	chr5:74913800-74923600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:74913800-74933600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:74914000-74923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:74914000-74930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:74915000-74925800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:74916600-74931800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:74917000-74923400	Weak transcription	Gastric	stomach
11	chr5:74918400-74944200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:74918800-74934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:74919800-74923200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:74920000-74923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:74920200-74922800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:74920200-74926000	Weak transcription	NHEK	skin
17	chr5:74920200-74936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:74920400-74922800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:74920400-74923400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:74920400-74929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:74920400-74944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:74920600-74933400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:74921800-74923400	Weak transcription	Stomach Mucosa	stomach
24	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:74922000-74931600	Weak transcription	Lung	lung
26	chr5:74922000-74932000	Weak transcription	Aorta	Aorta
27	chr5:74922000-74932400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links