Variant report

Variant	rs13264137
Chromosome Location	chr8:118971650-118971651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10283365	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955841	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs10955843	0.83[YRI][hapmap]
rs13263541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876778	0.93[CEU][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7830231	0.81[CHB][hapmap];0.83[YRI][hapmap]
rs7834892	0.84[YRI][hapmap]

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	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
2	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
3	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
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
2	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:118969800-118986800	Weak transcription	Lung	lung
12	chr8:118970000-118971800	Enhancers	Fetal Intestine Small	intestine
13	chr8:118970000-118971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:118970000-118972200	Enhancers	NHLF	lung
15	chr8:118970000-118973000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:118970000-118973000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:118970000-118973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
19	chr8:118970200-118972200	Enhancers	NHEK	skin
20	chr8:118970200-118973000	Weak transcription	HMEC	breast
21	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:118970400-118972200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:118970400-118972200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:118970400-118972600	Weak transcription	A549	lung
25	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
26	chr8:118970600-118972000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:118970600-118972200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:118970600-118972600	Weak transcription	Liver	Liver
29	chr8:118970600-118972800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:118970600-118973000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:118970600-118973000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:118970600-118973400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:118970600-118977600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:118970600-118981800	Weak transcription	Fetal Lung	lung
35	chr8:118970800-118972200	Enhancers	HSMM	muscle
36	chr8:118970800-118976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
38	chr8:118971000-118972000	Enhancers	Fetal Intestine Large	intestine
39	chr8:118971200-118971800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr8:118971200-118971800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:118971200-118971800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:118971200-118972000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:118971200-118972200	Enhancers	Aorta	Aorta
44	chr8:118971200-118974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:118971400-118971800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:118971400-118971800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:118971400-118971800	Enhancers	Left Ventricle	heart
48	chr8:118971400-118971800	Enhancers	Ovary	ovary
49	chr8:118971400-118971800	Enhancers	Pancreas	Pancrea
50	chr8:118971400-118971800	Enhancers	NH-A	brain

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