Variant report

Variant	rs58993030
Chromosome Location	chr8:99606460-99606461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11785245	0.87[EUR][1000 genomes]
rs4292660	0.80[EUR][1000 genomes]
rs58679407	0.85[EUR][1000 genomes]
rs6988087	0.94[EUR][1000 genomes]
rs7818828	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7827435	0.81[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99578200-99610000	Weak transcription	HSMMtube	muscle
2	chr8:99585800-99609800	Weak transcription	Small Intestine	intestine
3	chr8:99587000-99611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:99587200-99610000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:99587200-99610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:99587200-99610800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:99587200-99613200	Weak transcription	GM12878-XiMat	blood
8	chr8:99587400-99610800	Weak transcription	NHDF-Ad	bronchial
9	chr8:99587600-99610400	Weak transcription	HMEC	breast
10	chr8:99587600-99611000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:99587800-99610600	Weak transcription	NHEK	skin
12	chr8:99587800-99611000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:99588000-99612000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:99590600-99610600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:99590600-99610600	Weak transcription	Fetal Lung	lung
18	chr8:99591000-99607200	Weak transcription	Dnd41	blood
19	chr8:99592000-99610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:99599200-99610600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:99599800-99609400	Weak transcription	A549	lung
22	chr8:99599800-99610000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:99600000-99609200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:99600200-99611600	Weak transcription	Right Ventricle	heart
25	chr8:99600400-99610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:99600600-99607200	Weak transcription	Thymus	Thymus
27	chr8:99601200-99608200	Weak transcription	Gastric	stomach
28	chr8:99601200-99611000	Weak transcription	NHLF	lung
29	chr8:99601400-99616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:99601600-99607600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:99602000-99610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:99602400-99606600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:99602400-99607200	Weak transcription	Fetal Intestine Large	intestine
34	chr8:99602600-99608400	Strong transcription	Liver	Liver
35	chr8:99602800-99612000	Weak transcription	Pancreas	Pancrea
36	chr8:99602800-99613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:99602800-99614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:99602800-99615000	Weak transcription	Adipose Nuclei	Adipose
39	chr8:99602800-99622800	Weak transcription	Esophagus	oesophagus
40	chr8:99603000-99609800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:99603000-99611600	Weak transcription	Placenta	Placenta
42	chr8:99603000-99612000	Weak transcription	Left Ventricle	heart
43	chr8:99603000-99612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:99603000-99612600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:99603000-99616000	Weak transcription	Fetal Stomach	stomach
46	chr8:99603000-99635600	Weak transcription	Lung	lung
47	chr8:99603600-99608000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:99603600-99608400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:99604200-99612600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:99604600-99610400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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