Variant report

Variant	rs149197390
Chromosome Location	chr8:48406214-48406215
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	chr8:48404469..48406419-chr8:48408750..48411124,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48393400-48410400	Weak transcription	Ovary	ovary
3	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
4	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
6	chr8:48397800-48406600	Weak transcription	Esophagus	oesophagus
7	chr8:48397800-48410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:48397800-48410600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:48397800-48417600	Weak transcription	Gastric	stomach
10	chr8:48397800-48418200	Weak transcription	Dnd41	blood
11	chr8:48398000-48407200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:48398200-48410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:48398400-48411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:48398600-48407200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:48399000-48408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48399000-48411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:48404800-48421200	Weak transcription	Lung	lung
26	chr8:48405200-48409000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:48405800-48409800	Weak transcription	Fetal Lung	lung

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