Variant report

Variant	rs7816836
Chromosome Location	chr8:131427224-131427225
allele	A/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:12)

rs_ID	r²[population]
rs10098396	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10098622	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10103280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11778323	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786359	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904259	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35977498	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733575	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724494	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72726224	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73711700	0.85[AFR][1000 genomes]
rs73713907	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
7	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:131418600-131428200	Weak transcription	HMEC	breast
9	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
10	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:131420600-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:131420600-131428200	Weak transcription	NHLF	lung
13	chr8:131421000-131428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:131422000-131431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:131422200-131428200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:131422200-131431200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:131422400-131428200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:131423000-131428600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:131423200-131428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:131423400-131428200	Enhancers	HUVEC	blood vessel
22	chr8:131423800-131429400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:131424200-131428000	Weak transcription	NH-A	brain
24	chr8:131424200-131428400	Weak transcription	Psoas Muscle	Psoas
25	chr8:131424200-131428400	Weak transcription	Osteobl	bone
26	chr8:131424200-131429000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:131424400-131427600	Weak transcription	Left Ventricle	heart
28	chr8:131424400-131428000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:131424400-131428000	Weak transcription	Fetal Thymus	thymus
30	chr8:131424400-131428000	Weak transcription	GM12878-XiMat	blood
31	chr8:131424400-131428000	Weak transcription	HSMM	muscle
32	chr8:131424400-131428000	Weak transcription	HSMMtube	muscle
33	chr8:131424400-131428000	Weak transcription	NHEK	skin
34	chr8:131424400-131428200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:131424400-131428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:131424400-131428400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:131424400-131428400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131424400-131428400	Weak transcription	Right Atrium	heart
39	chr8:131424400-131428400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:131424400-131428600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:131424400-131428800	Weak transcription	Right Ventricle	heart
42	chr8:131424400-131428800	Weak transcription	Spleen	Spleen
43	chr8:131424400-131430000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:131424400-131431200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:131424600-131427600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:131424600-131433800	Weak transcription	HepG2	liver
47	chr8:131424800-131427600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:131424800-131427800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131424800-131428000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:131425200-131428400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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