Variant report

Variant	rs61438893
Chromosome Location	chr8:8733232-8733233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10108257	1.00[EUR][1000 genomes]
rs11992868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34507441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57155650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58169490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58512496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60719883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6601266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73504224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73504233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525736	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525766	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525773	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
2	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8724600-8735000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:8726800-8737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:8726800-8737600	Weak transcription	NHEK	skin
6	chr8:8727600-8733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:8728800-8735000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:8728800-8735200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:8729400-8733800	Enhancers	NHDF-Ad	bronchial
10	chr8:8729400-8735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:8730400-8735200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:8730600-8734400	Weak transcription	Pancreas	Pancrea
14	chr8:8730600-8734400	Weak transcription	Right Ventricle	heart
15	chr8:8730600-8735000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:8730600-8735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:8730600-8735000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:8730600-8735000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:8730600-8735000	Weak transcription	Placenta	Placenta
20	chr8:8730600-8735000	Weak transcription	Left Ventricle	heart
21	chr8:8730600-8735000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:8730600-8735000	Weak transcription	Spleen	Spleen
23	chr8:8730600-8735200	Weak transcription	Adipose Nuclei	Adipose
24	chr8:8730600-8735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:8730600-8737600	Weak transcription	Lung	lung
26	chr8:8730600-8738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:8730600-8738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:8730600-8738800	Weak transcription	GM12878-XiMat	blood
29	chr8:8730600-8742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:8730600-8742000	Weak transcription	K562	blood
31	chr8:8730800-8733600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:8730800-8734800	Weak transcription	Fetal Stomach	stomach
33	chr8:8730800-8734800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:8730800-8735000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:8730800-8735000	Weak transcription	Gastric	stomach
36	chr8:8730800-8735200	Weak transcription	Aorta	Aorta
37	chr8:8730800-8735200	Weak transcription	Brain Angular Gyrus	brain
38	chr8:8730800-8735200	Weak transcription	Psoas Muscle	Psoas
39	chr8:8730800-8736200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:8730800-8737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:8730800-8737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:8730800-8737600	Weak transcription	Right Atrium	heart
43	chr8:8730800-8738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:8730800-8742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:8730800-8747600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:8731000-8734800	Weak transcription	HSMMtube	muscle
47	chr8:8731000-8735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:8731000-8742000	Weak transcription	Fetal Heart	heart
49	chr8:8731000-8742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:8731000-8745200	Weak transcription	HUVEC	blood vessel

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