Variant report

Variant	rs58076033
Chromosome Location	chr8:99602798-99602799
allele	C/T
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:33)

rs_ID	r²[population]
rs16896989	1.00[AMR][1000 genomes]
rs16896990	1.00[AMR][1000 genomes]
rs4585723	1.00[AMR][1000 genomes]
rs58733089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982060	1.00[AMR][1000 genomes]
rs6993159	1.00[AMR][1000 genomes]
rs73275840	1.00[AMR][1000 genomes]
rs73275849	1.00[AMR][1000 genomes]
rs73275851	1.00[AMR][1000 genomes]
rs73275859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275862	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275872	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275874	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275890	1.00[AMR][1000 genomes]
rs73275899	1.00[AMR][1000 genomes]
rs73277804	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277809	1.00[AMR][1000 genomes]
rs73277812	1.00[AMR][1000 genomes]
rs73277822	1.00[AMR][1000 genomes]
rs73277859	1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	1.00[AMR][1000 genomes]
rs73277870	1.00[AMR][1000 genomes]
rs73277872	1.00[AMR][1000 genomes]
rs73277876	1.00[AMR][1000 genomes]
rs73277884	1.00[AMR][1000 genomes]
rs7818030	1.00[AMR][1000 genomes]
rs7842701	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
2	chr8:99578200-99610000	Weak transcription	HSMMtube	muscle
3	chr8:99585800-99609800	Weak transcription	Small Intestine	intestine
4	chr8:99586600-99603800	Weak transcription	HSMM	muscle
5	chr8:99587000-99611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:99587200-99610000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:99587200-99610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:99587200-99610800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:99587200-99613200	Weak transcription	GM12878-XiMat	blood
10	chr8:99587400-99603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:99587400-99610800	Weak transcription	NHDF-Ad	bronchial
12	chr8:99587600-99610400	Weak transcription	HMEC	breast
13	chr8:99587600-99611000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:99587800-99610600	Weak transcription	NHEK	skin
15	chr8:99587800-99611000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:99588000-99612000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:99588800-99603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:99589400-99602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:99590600-99610600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:99590600-99610600	Weak transcription	Fetal Lung	lung
23	chr8:99591000-99607200	Weak transcription	Dnd41	blood
24	chr8:99592000-99610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99593800-99606200	Weak transcription	Aorta	Aorta
26	chr8:99599200-99610600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:99599600-99606400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:99599800-99609400	Weak transcription	A549	lung
29	chr8:99599800-99610000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:99600000-99609200	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:99600200-99611600	Weak transcription	Right Ventricle	heart
32	chr8:99600400-99610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:99600600-99607200	Weak transcription	Thymus	Thymus
34	chr8:99601200-99608200	Weak transcription	Gastric	stomach
35	chr8:99601200-99611000	Weak transcription	NHLF	lung
36	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:99601600-99602800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:99601600-99603000	Strong transcription	Fetal Intestine Small	intestine
39	chr8:99601600-99603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:99601600-99607600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99601800-99603000	ZNF genes & repeats	Lung	lung
42	chr8:99602000-99602800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:99602000-99603000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:99602000-99603000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr8:99602000-99603600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:99602000-99610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:99602200-99602800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr8:99602200-99602800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99602200-99602800	Strong transcription	Pancreas	Pancrea
50	chr8:99602200-99603000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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