Variant report

Variant	rs58577394
Chromosome Location	chr8:42804544-42804545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11987761	0.93[AFR][1000 genomes]
rs11988193	0.86[AFR][1000 genomes]
rs11989986	0.93[AFR][1000 genomes]
rs11990955	1.00[AFR][1000 genomes]
rs11993252	0.93[AFR][1000 genomes]
rs11993799	0.93[AFR][1000 genomes]
rs11995127	0.93[AFR][1000 genomes]
rs35349171	0.93[AFR][1000 genomes]
rs59122469	0.85[AFR][1000 genomes]
rs59287971	0.85[AFR][1000 genomes]
rs59523223	1.00[AFR][1000 genomes]
rs60389831	0.86[AFR][1000 genomes]
rs73627236	0.93[AFR][1000 genomes]
rs73627289	0.85[AFR][1000 genomes]
rs73627301	0.82[AFR][1000 genomes]
rs73629105	0.82[AFR][1000 genomes]
rs73634620	0.85[AFR][1000 genomes]
rs73634630	0.92[AFR][1000 genomes]
rs73634647	1.00[AFR][1000 genomes]
rs73634656	0.93[AFR][1000 genomes]
rs73634693	1.00[AFR][1000 genomes]
rs73634694	1.00[AFR][1000 genomes]
rs73634697	0.93[AFR][1000 genomes]
rs73634702	0.93[AFR][1000 genomes]
rs73635307	0.93[AFR][1000 genomes]
rs73635310	1.00[AFR][1000 genomes]
rs73635330	0.93[AFR][1000 genomes]
rs73635337	0.93[AFR][1000 genomes]
rs73635339	1.00[AFR][1000 genomes]
rs73635342	1.00[AFR][1000 genomes]
rs73635343	0.93[AFR][1000 genomes]
rs73635347	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:42772600-42815400	Weak transcription	Gastric	stomach
6	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
7	chr8:42774200-42806400	Weak transcription	Lung	lung
8	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
9	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
11	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
13	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:42777200-42805000	Weak transcription	A549	lung
15	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
16	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
18	chr8:42782200-42806600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:42786200-42805200	Weak transcription	Fetal Kidney	kidney
21	chr8:42786400-42806600	Weak transcription	NHLF	lung
22	chr8:42786400-42807200	Weak transcription	Esophagus	oesophagus
23	chr8:42786600-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:42787800-42805200	Weak transcription	HUVEC	blood vessel
25	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:42788000-42806400	Weak transcription	Thymus	Thymus
28	chr8:42788000-42806600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:42788000-42806600	Weak transcription	HepG2	liver
30	chr8:42788000-42806800	Weak transcription	Aorta	Aorta
31	chr8:42788000-42806800	Weak transcription	HSMMtube	muscle
32	chr8:42788000-42807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
35	chr8:42788800-42814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:42788800-42815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:42789000-42805200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:42789000-42815600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:42789800-42809800	Weak transcription	Ovary	ovary
40	chr8:42790000-42805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:42793800-42805000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:42793800-42807200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:42793800-42807400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:42794000-42805200	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:42794000-42805600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:42794000-42815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:42795600-42807000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:42795600-42807200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:42795600-42811200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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