Variant report

Variant	rs555340233
Chromosome Location	chr8:19713912-19713913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19700000-19714000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
3	chr8:19705600-19714200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:19706000-19714800	Weak transcription	HMEC	breast
5	chr8:19706600-19714400	Weak transcription	HUVEC	blood vessel
6	chr8:19706600-19715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:19706800-19715400	Weak transcription	HepG2	liver
8	chr8:19707000-19714200	Weak transcription	NHDF-Ad	bronchial
9	chr8:19709400-19714800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:19709400-19715200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:19709600-19714200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:19710200-19714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:19710400-19714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:19710400-19714200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:19710400-19715000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:19710400-19715000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:19710400-19715000	Weak transcription	Fetal Thymus	thymus
18	chr8:19710400-19715400	Weak transcription	Pancreas	Pancrea
19	chr8:19710400-19719600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:19710600-19714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:19710600-19715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:19710600-19715200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:19710800-19714600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:19711200-19714000	Weak transcription	Fetal Stomach	stomach
25	chr8:19711200-19714400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:19711400-19714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:19711400-19715800	Weak transcription	A549	lung
28	chr8:19711600-19715000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:19711800-19715200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:19712200-19715200	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:19712800-19714800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:19712800-19714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:19712800-19715000	Weak transcription	Fetal Brain Male	brain
34	chr8:19713400-19714000	Enhancers	Psoas Muscle	Psoas
35	chr8:19713400-19714200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:19713400-19714600	Enhancers	Skeletal Muscle Female	skeletal muscle

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