Variant report

Variant	rs10103280
Chromosome Location	chr8:131417745-131417746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10091450	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10098396	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10098622	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10100892	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11778323	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786359	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426101	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs16904259	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2554369	1.00[CHB][hapmap]
rs2554372	0.81[CHB][hapmap]
rs2670885	0.86[CEU][hapmap];0.93[CHB][hapmap]
rs2670888	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2670890	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2791338	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2791342	1.00[CHB][hapmap]
rs2791350	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2943086	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs35977498	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733575	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724494	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72726224	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73713907	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7816836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297805	0.81[CEU][hapmap];1.00[CHB][hapmap]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
10	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
13	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
18	chr8:131410000-131423200	Weak transcription	Ovary	ovary
19	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:131411400-131418400	Weak transcription	Fetal Lung	lung
21	chr8:131411400-131419400	Weak transcription	Left Ventricle	heart
22	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:131414600-131419400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
27	chr8:131415200-131420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131416200-131418000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:131416200-131418000	Strong transcription	A549	lung
30	chr8:131416400-131418000	Enhancers	Osteobl	bone
31	chr8:131416600-131418000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:131416600-131418000	Enhancers	HSMM	muscle
33	chr8:131416600-131418000	Enhancers	NHDF-Ad	bronchial
34	chr8:131416600-131419600	Genic enhancers	HUVEC	blood vessel
35	chr8:131416600-131420600	Enhancers	NHLF	lung
36	chr8:131416800-131417800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:131416800-131418000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131416800-131418000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:131416800-131418000	Enhancers	Right Atrium	heart
40	chr8:131416800-131418000	Strong transcription	HepG2	liver
41	chr8:131417000-131417800	Enhancers	Psoas Muscle	Psoas
42	chr8:131417000-131417800	Enhancers	HMEC	breast
43	chr8:131417000-131418000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:131417000-131418000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:131417000-131418000	Enhancers	Lung	lung
46	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
47	chr8:131417200-131418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:131417400-131417800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:131417400-131418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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