Variant report

Variant	rs2618457
Chromosome Location	chr8:11369177-11369178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11250142	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs1478895	0.81[CHB][hapmap]
rs1564267	0.81[CHB][hapmap]
rs1600249	0.83[CHB][hapmap]
rs17153385	0.86[CEU][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251056	0.81[CHB][hapmap]
rs2252729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280805	0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2409781	0.81[CHB][hapmap]
rs2618455	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618456	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2618458	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618467	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2618476	0.81[CHB][hapmap]
rs2736344	0.82[CHB][hapmap]
rs2736353	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736356	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2736359	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736360	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs6993775	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73209286	0.82[EUR][1000 genomes]
rs9694294	0.81[CHB][hapmap]
rs998682	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11364800-11372000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:11365400-11373400	Enhancers	NHEK	skin
4	chr8:11365600-11372000	Weak transcription	Spleen	Spleen
5	chr8:11365800-11374600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:11366000-11371200	Enhancers	Osteobl	bone
7	chr8:11366200-11369400	Enhancers	NH-A	brain
8	chr8:11366400-11369400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:11366400-11369400	Enhancers	HMEC	breast
10	chr8:11366600-11369400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:11366600-11370000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:11366600-11375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:11366800-11370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:11367000-11373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:11367600-11369200	Enhancers	HUVEC	blood vessel
16	chr8:11367600-11370800	Strong transcription	Primary B cells from cord blood	blood
17	chr8:11367800-11369400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:11367800-11369400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:11367800-11369800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:11367800-11369800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:11368200-11369400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:11368200-11369400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:11368200-11370600	Weak transcription	HSMMtube	muscle
24	chr8:11368200-11372600	Weak transcription	NHLF	lung
25	chr8:11368400-11369400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:11368400-11369400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:11368400-11369600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:11368400-11369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:11368600-11369400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:11368600-11369400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:11368800-11369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:11368800-11369600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:11368800-11369800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:11368800-11369800	Enhancers	NHDF-Ad	bronchial
35	chr8:11368800-11370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:11368800-11370600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:11368800-11371600	Strong transcription	GM12878-XiMat	blood
38	chr8:11368800-11374600	Enhancers	HSMM	muscle
39	chr8:11368800-11375800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:11369000-11369600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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