Variant report

Variant	rs189981231
Chromosome Location	chr8:99469920-99469921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99440204..99443025-chr8:99468431..99469990,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99441400-99472600	Weak transcription	Pancreas	Pancrea
2	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
3	chr8:99464000-99471800	Weak transcription	Lung	lung
4	chr8:99465000-99478600	Weak transcription	HUVEC	blood vessel
5	chr8:99465200-99478800	Weak transcription	A549	lung
6	chr8:99465400-99471600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:99465600-99470600	Enhancers	NHDF-Ad	bronchial
8	chr8:99465600-99471400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:99465600-99471800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:99466200-99470000	Enhancers	Osteobl	bone
11	chr8:99466200-99471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:99466400-99470800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:99466400-99473600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:99466600-99471600	Weak transcription	Aorta	Aorta
15	chr8:99466800-99471800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:99466800-99471800	Weak transcription	HSMMtube	muscle
17	chr8:99466800-99474800	Weak transcription	Left Ventricle	heart
18	chr8:99466800-99477200	Weak transcription	Ovary	ovary
19	chr8:99467000-99471600	Weak transcription	Fetal Lung	lung
20	chr8:99467000-99471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:99467000-99471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:99467000-99478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:99467200-99470800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:99467200-99471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:99467200-99478600	Weak transcription	NH-A	brain
26	chr8:99467200-99478600	Weak transcription	NHEK	skin
27	chr8:99468000-99472000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:99468000-99476400	Weak transcription	Fetal Heart	heart
29	chr8:99468200-99471600	Weak transcription	Placenta	Placenta
30	chr8:99468400-99470200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:99468800-99471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:99469000-99470000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:99469200-99476400	Weak transcription	HSMM	muscle
34	chr8:99469400-99471800	Weak transcription	Liver	Liver
35	chr8:99469600-99473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:99469800-99470000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:99469800-99471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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