Variant report

Variant	rs4129114
Chromosome Location	chr8:118877575-118877576
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10089630	0.87[CEU][hapmap]
rs10098795	0.88[CEU][hapmap]
rs12676684	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs12677136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12682457	0.95[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs17430315	0.88[CEU][hapmap]
rs17430357	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs17430364	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs17439784	0.96[CHB][hapmap];0.89[JPT][hapmap]
rs17439826	0.96[CHB][hapmap];0.89[JPT][hapmap]
rs17452847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28535273	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521109	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66732486	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv612034	chr8:118874307-118879130	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv612035	chr8:118874307-118881866	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
6	chr8:118874000-118881200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:118874200-118878000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:118875000-118878600	Weak transcription	HSMMtube	muscle
10	chr8:118875200-118880800	Weak transcription	Lung	lung
11	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:118875600-118878600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:118875600-118878600	Weak transcription	HMEC	breast
14	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
15	chr8:118875800-118879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118876000-118878000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:118876000-118878600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118876000-118879600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:118876000-118879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:118876000-118879800	Weak transcription	HSMM	muscle
21	chr8:118876000-118880400	Weak transcription	Pancreas	Pancrea
22	chr8:118876200-118877600	Weak transcription	NH-A	brain
23	chr8:118876200-118878600	Weak transcription	Ovary	ovary
24	chr8:118876200-118878600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:118876200-118878600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:118876200-118878600	Weak transcription	NHLF	lung
27	chr8:118876200-118880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:118876200-118880400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:118876200-118881400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:118876200-118883800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
34	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
35	chr8:118876400-118878200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:118876400-118878600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:118876400-118878600	Weak transcription	NHEK	skin
38	chr8:118876400-118879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:118876400-118879800	Weak transcription	Liver	Liver
40	chr8:118876400-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:118876400-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
44	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:118876600-118879600	Weak transcription	NHDF-Ad	bronchial
46	chr8:118876800-118877800	Weak transcription	Fetal Heart	heart
47	chr8:118876800-118878600	Weak transcription	Aorta	Aorta
48	chr8:118877000-118877600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr8:118877200-118880600	Enhancers	A549	lung
50	chr8:118877400-118877600	Genic enhancers	Osteobl	bone

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