Variant report

Variant	rs572272479
Chromosome Location	chr8:99682905-99682906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99668000-99683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:99673800-99686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
4	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99677000-99683000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99677800-99685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:99679400-99683000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:99680400-99683000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:99680600-99683000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:99680600-99686000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:99680600-99689800	Weak transcription	NH-A	brain
12	chr8:99680600-99692400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:99680800-99683600	Weak transcription	Fetal Heart	heart
14	chr8:99680800-99684400	Weak transcription	HSMMtube	muscle
15	chr8:99681000-99683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:99681000-99683000	Weak transcription	Osteobl	bone
17	chr8:99681200-99692400	Weak transcription	NHDF-Ad	bronchial
18	chr8:99681800-99683400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
19	chr8:99681800-99683600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr8:99681800-99684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:99682000-99683800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr8:99682000-99684000	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr8:99682000-99684200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:99682200-99683000	Weak transcription	NHEK	skin
25	chr8:99682200-99683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:99682200-99683600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr8:99682200-99684000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr8:99682200-99684600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr8:99682400-99683200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr8:99682400-99683200	ZNF genes & repeats	Ovary	ovary
31	chr8:99682400-99683400	ZNF genes & repeats	Aorta	Aorta
32	chr8:99682400-99683400	ZNF genes & repeats	Fetal Stomach	stomach
33	chr8:99682400-99683400	ZNF genes & repeats	Lung	lung
34	chr8:99682400-99683400	ZNF genes & repeats	Pancreas	Pancrea
35	chr8:99682400-99683600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr8:99682400-99683800	ZNF genes & repeats	Dnd41	blood
37	chr8:99682400-99684000	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr8:99682400-99684200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:99682400-99684400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:99682400-99684400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99682400-99684400	ZNF genes & repeats	Liver	Liver
42	chr8:99682600-99683200	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr8:99682600-99683200	ZNF genes & repeats	NHLF	lung
44	chr8:99682600-99683400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:99682600-99683400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr8:99682600-99684000	ZNF genes & repeats	Fetal Lung	lung
47	chr8:99682600-99684200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:99682800-99683200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99682800-99683200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:99682800-99683200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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