Variant report

Variant	rs530246204
Chromosome Location	chr8:99682127-99682128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99679404..99682234-chr8:99684167..99686390,2	K562	blood:

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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
2	chr8:99663400-99682800	Weak transcription	Placenta	Placenta
3	chr8:99668000-99683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:99671000-99682200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:99671400-99682800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:99671800-99682200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:99672200-99682600	Weak transcription	NHLF	lung
8	chr8:99673200-99682800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99673800-99686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:99674400-99682800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:99674600-99682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:99675000-99682600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:99676000-99682800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
15	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:99676600-99682400	Weak transcription	Aorta	Aorta
17	chr8:99676600-99682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:99677000-99683000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:99677200-99682400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:99677800-99682200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:99677800-99682400	Weak transcription	Lung	lung
22	chr8:99677800-99685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:99679400-99682800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:99679400-99683000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:99680000-99682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:99680400-99682800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:99680400-99683000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:99680600-99682200	Enhancers	NHEK	skin
29	chr8:99680600-99682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:99680600-99682800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:99680600-99683000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:99680600-99686000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:99680600-99689800	Weak transcription	NH-A	brain
34	chr8:99680600-99692400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:99680800-99682800	Weak transcription	Left Ventricle	heart
36	chr8:99680800-99682800	Weak transcription	A549	lung
37	chr8:99680800-99683600	Weak transcription	Fetal Heart	heart
38	chr8:99680800-99684400	Weak transcription	HSMMtube	muscle
39	chr8:99681000-99682400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:99681000-99682400	Weak transcription	Dnd41	blood
41	chr8:99681000-99683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:99681000-99683000	Weak transcription	Osteobl	bone
43	chr8:99681200-99692400	Weak transcription	NHDF-Ad	bronchial
44	chr8:99681800-99682200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:99681800-99682200	Strong transcription	Brain Substantia Nigra	brain
46	chr8:99681800-99682400	Strong transcription	Liver	Liver
47	chr8:99681800-99682400	Strong transcription	Ovary	ovary
48	chr8:99681800-99683400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
49	chr8:99681800-99683600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr8:99681800-99684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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