Variant report

Variant	rs575377122
Chromosome Location	chr8:62519445-62519446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:62498400-62521200	Weak transcription	Ovary	ovary
8	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
9	chr8:62504800-62526800	Weak transcription	NHEK	skin
10	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
11	chr8:62506200-62528800	Weak transcription	HepG2	liver
12	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:62508800-62520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:62509000-62521400	Weak transcription	Fetal Stomach	stomach
17	chr8:62509000-62523200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:62509200-62520800	Weak transcription	Gastric	stomach
19	chr8:62509200-62521400	Weak transcription	Lung	lung
20	chr8:62509200-62521400	Weak transcription	Pancreas	Pancrea
21	chr8:62509200-62521400	Weak transcription	Spleen	Spleen
22	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
23	chr8:62513000-62523200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:62513200-62521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:62513600-62533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:62513800-62519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:62514000-62524000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:62515200-62522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:62516000-62521200	Enhancers	NHDF-Ad	bronchial
33	chr8:62516200-62520600	Genic enhancers	A549	lung
34	chr8:62516400-62519600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:62516400-62520600	Enhancers	NHLF	lung
36	chr8:62517400-62526000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:62517800-62521200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:62517800-62521400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:62517800-62521400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:62518000-62521400	Weak transcription	HMEC	breast
41	chr8:62518000-62521800	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:62518000-62524000	Weak transcription	Psoas Muscle	Psoas
43	chr8:62518000-62524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:62518000-62528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:62518000-62529200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:62518000-62529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
48	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
49	chr8:62518400-62523600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:62518400-62528800	Weak transcription	Fetal Muscle Trunk	muscle

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