Variant report

Variant	rs2000678
Chromosome Location	chr8:102574115-102574116
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2222622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6468779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007442	1.00[AMR][1000 genomes]
rs7461143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841541	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv971343	chr8:102571397-102574555	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
2	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:102557400-102577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:102565600-102582800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:102566000-102582800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:102566600-102585600	Weak transcription	Pancreas	Pancrea
7	chr8:102567400-102575600	Weak transcription	HMEC	breast
8	chr8:102569200-102582800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:102569600-102574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:102571000-102574400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:102571000-102583000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:102571000-102589600	Weak transcription	Gastric	stomach
13	chr8:102571200-102582200	Weak transcription	NHEK	skin
14	chr8:102572200-102574200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:102572200-102574600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:102572200-102575200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:102572400-102582600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:102572400-102582600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:102572400-102582800	Weak transcription	Placenta	Placenta
20	chr8:102572600-102581600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:102572600-102583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:102572600-102583000	Weak transcription	Esophagus	oesophagus
23	chr8:102573000-102575400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:102573000-102581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:102573000-102582200	Weak transcription	Fetal Intestine Large	intestine
26	chr8:102573000-102582600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:102573200-102575000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:102573200-102582200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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