Variant report

Variant	rs182646349
Chromosome Location	chr8:19980808-19980809
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19980514..19983511-chr8:19986584..19989159,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv8311	chr8:19975043-19980924	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890634	chr8:19976239-20028474	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2629638	chr8:19979604-19981126	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19978000-19981000	Weak transcription	Fetal Lung	lung
2	chr8:19978000-19981000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
4	chr8:19978200-19981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:19978200-19981000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:19978200-19987000	Weak transcription	Left Ventricle	heart
7	chr8:19978400-19981000	Weak transcription	A549	lung
8	chr8:19978400-19981200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:19978400-19983000	Weak transcription	Right Atrium	heart
10	chr8:19978600-19982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:19979400-19981200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:19979400-19981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:19979400-19981200	Enhancers	HMEC	breast
14	chr8:19979600-19981000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19979600-19981000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:19979600-19981200	Enhancers	Osteobl	bone
17	chr8:19979600-19981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:19979600-19981400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:19980000-19981000	Enhancers	HSMM	muscle
20	chr8:19980000-19981400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:19980200-19981000	Weak transcription	HUVEC	blood vessel
22	chr8:19980200-19981200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:19980200-19981200	Enhancers	NH-A	brain
24	chr8:19980200-19986000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:19980400-19981000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:19980600-19981000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:19980600-19981000	Enhancers	Placenta	Placenta
28	chr8:19980800-19982200	Enhancers	Adipose Nuclei	Adipose
29	chr8:19980800-19986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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