Variant report

Variant	rs2554401
Chromosome Location	chr8:95701885-95701886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10110480	0.85[JPT][hapmap]
rs11786992	0.85[JPT][hapmap]
rs13258807	0.85[JPT][hapmap]
rs1895874	0.90[JPT][hapmap]
rs2554399	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2554400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722885	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2722886	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs6471480	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7815731	0.90[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
3	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:95681400-95704400	Weak transcription	Gastric	stomach
6	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
8	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:95695000-95712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:95697200-95704400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:95697200-95712200	Weak transcription	Esophagus	oesophagus
12	chr8:95698000-95704400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:95698600-95704400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:95698600-95704400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
16	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:95700800-95703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:95700800-95704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:95700800-95704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:95700800-95704400	Weak transcription	Pancreas	Pancrea
21	chr8:95701000-95702600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:95701000-95702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:95701000-95703000	Weak transcription	NHEK	skin
24	chr8:95701000-95704200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:95701000-95704400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:95701000-95704800	Weak transcription	Placenta	Placenta
27	chr8:95701000-95708200	Weak transcription	Fetal Intestine Large	intestine
28	chr8:95701200-95702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:95701200-95702600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:95701200-95702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:95701200-95702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:95701200-95702800	Weak transcription	HMEC	breast
33	chr8:95701200-95703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:95701200-95704400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:95701400-95704200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:95701600-95702400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:95701600-95702400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:95701800-95702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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