Variant report

Variant	rs2514754
Chromosome Location	chr8:119078249-119078250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1824176	0.90[ASN][1000 genomes]
rs1839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2255931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2445903	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2447529	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447530	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2447534	0.94[ASN][1000 genomes]
rs2447542	0.86[JPT][hapmap]
rs2451157	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2451158	0.89[ASN][1000 genomes]
rs2451159	0.92[ASN][1000 genomes]
rs2468134	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468135	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2514716	0.94[ASN][1000 genomes]
rs2514717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514718	0.93[ASN][1000 genomes]
rs2514755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:119069000-119081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:119069200-119081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:119069800-119080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119072800-119080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:119073400-119083400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119074000-119086200	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:119074800-119079400	Weak transcription	Esophagus	oesophagus
14	chr8:119074800-119079600	Weak transcription	Stomach Mucosa	stomach
15	chr8:119074800-119086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:119075000-119079600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
19	chr8:119075400-119079200	Weak transcription	Liver	Liver
20	chr8:119075600-119080000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119075600-119086000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:119075800-119079400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:119075800-119080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:119075800-119081200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:119075800-119081200	Weak transcription	Psoas Muscle	Psoas
26	chr8:119075800-119081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:119075800-119083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:119075800-119085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:119075800-119086200	Weak transcription	Right Atrium	heart
30	chr8:119075800-119086400	Weak transcription	Brain Anterior Caudate	brain
31	chr8:119076000-119079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:119076000-119079400	Weak transcription	Aorta	Aorta
33	chr8:119076000-119079600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:119076000-119079800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:119076000-119081200	Weak transcription	Fetal Lung	lung
36	chr8:119076000-119081200	Weak transcription	Small Intestine	intestine
37	chr8:119076000-119081200	Weak transcription	NHDF-Ad	bronchial
38	chr8:119076000-119086200	Weak transcription	Right Ventricle	heart
39	chr8:119076400-119086200	Weak transcription	Left Ventricle	heart
40	chr8:119076400-119086200	Weak transcription	Lung	lung
41	chr8:119077400-119078400	Enhancers	Hela-S3	cervix
42	chr8:119077400-119078400	Enhancers	HMEC	breast
43	chr8:119077400-119078400	Enhancers	HUVEC	blood vessel
44	chr8:119077400-119078400	Genic enhancers	Osteobl	bone
45	chr8:119077400-119079600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:119077400-119080600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:119077400-119082000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:119077600-119078400	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:119077600-119078400	Strong transcription	HSMM	muscle
50	chr8:119077600-119078400	Enhancers	NHEK	skin

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