Variant report

Variant	rs2554400
Chromosome Location	chr8:95701464-95701465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10110480	0.85[JPT][hapmap]
rs11786992	0.85[JPT][hapmap]
rs12543234	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12543514	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs12546263	0.95[AFR][1000 genomes]
rs12546282	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12675372	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12676908	0.95[AFR][1000 genomes]
rs12677519	0.84[YRI][hapmap]
rs12677807	0.95[AFR][1000 genomes]
rs12677830	0.95[AFR][1000 genomes]
rs12678709	0.95[AFR][1000 genomes]
rs12678729	0.93[AFR][1000 genomes]
rs13258807	0.85[JPT][hapmap]
rs1365205	1.00[YRI][hapmap]
rs1895874	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2052720	0.93[AFR][1000 genomes]
rs2052721	0.93[AFR][1000 genomes]
rs2068005	0.84[YRI][hapmap]
rs2554399	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2554401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722885	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722886	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs3864655	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4008177	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs4639480	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs55890917	0.95[AFR][1000 genomes]
rs57653937	0.95[AFR][1000 genomes]
rs58422141	0.95[AFR][1000 genomes]
rs59515090	0.95[AFR][1000 genomes]
rs60573557	0.95[AFR][1000 genomes]
rs6471461	0.90[AFR][1000 genomes]
rs6471462	0.95[AFR][1000 genomes]
rs6471480	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7017752	0.95[AFR][1000 genomes]
rs72676935	0.94[AFR][1000 genomes]
rs7814238	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7814803	0.84[YRI][hapmap]
rs7815731	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7832022	0.95[AFR][1000 genomes]
rs7836949	0.93[AFR][1000 genomes]

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	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
4	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95681400-95704400	Weak transcription	Gastric	stomach
7	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
9	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:95691800-95701800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:95692000-95701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95695000-95712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:95697200-95704400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:95697200-95712200	Weak transcription	Esophagus	oesophagus
15	chr8:95698000-95704400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:95698600-95704400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:95698600-95704400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
19	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:95700800-95703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95700800-95704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:95700800-95704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:95700800-95704400	Weak transcription	Pancreas	Pancrea
24	chr8:95701000-95702600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:95701000-95702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:95701000-95703000	Weak transcription	NHEK	skin
27	chr8:95701000-95704200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:95701000-95704400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:95701000-95704800	Weak transcription	Placenta	Placenta
30	chr8:95701000-95708200	Weak transcription	Fetal Intestine Large	intestine
31	chr8:95701200-95702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:95701200-95702600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:95701200-95702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:95701200-95702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:95701200-95702800	Weak transcription	HMEC	breast
36	chr8:95701200-95703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:95701200-95704400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:95701400-95704200	Weak transcription	H9 Cell Line	embryonic stem cell

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