Variant report

Variant	rs140339694
Chromosome Location	chr8:99545981-99545982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99540019..99542563-chr8:99545669..99547224,2	K562	blood:
2	chr8:99539907..99541519-chr8:99544944..99547169,2	K562	blood:
3	chr8:99545068..99548423-chr8:99550336..99555475,4	K562	blood:
4	chr8:99542296..99548423-chr8:99550336..99556395,6	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	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	nsv611808	chr8:99544765-99591736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99490400-99547600	Weak transcription	Ovary	ovary
2	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
3	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
6	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
7	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:99531000-99569600	Weak transcription	HMEC	breast
9	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:99531400-99586400	Weak transcription	HSMM	muscle
11	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
12	chr8:99532000-99548000	Weak transcription	HSMMtube	muscle
13	chr8:99533400-99566400	Weak transcription	NHLF	lung
14	chr8:99534600-99567200	Weak transcription	A549	lung
15	chr8:99534800-99549800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:99535400-99571600	Weak transcription	Gastric	stomach
17	chr8:99539200-99548200	Weak transcription	NHDF-Ad	bronchial
18	chr8:99539200-99553000	Weak transcription	HepG2	liver
19	chr8:99542000-99546600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:99542600-99546000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr8:99542600-99546600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:99542800-99546400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:99543000-99546400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:99543600-99553200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:99543800-99547600	Weak transcription	K562	blood
27	chr8:99543800-99548000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:99543800-99548400	Weak transcription	Adipose Nuclei	Adipose
29	chr8:99543800-99555000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:99544000-99547600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:99544000-99547600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:99544000-99548600	Weak transcription	Fetal Kidney	kidney
33	chr8:99544000-99552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:99544000-99552400	Weak transcription	Placenta	Placenta
35	chr8:99544000-99552800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:99544000-99559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:99544000-99560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:99544200-99552200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:99544200-99558800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:99544200-99559400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:99544600-99546000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:99544600-99547600	Weak transcription	Fetal Lung	lung
44	chr8:99544600-99548200	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:99544600-99549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:99544600-99556000	Weak transcription	Left Ventricle	heart
47	chr8:99544600-99560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:99544800-99546400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:99544800-99547600	Strong transcription	Liver	Liver

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