Variant report

Variant	rs80148994
Chromosome Location	chr8:48961399-48961400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48955264..48957497-chr8:48959787..48961410,2	K562	blood:
2	chr8:48953429..48954984-chr8:48960210..48961992,2	K562	blood:

Variant related genes	Relation type
ENSG00000169139	Chromatin interaction

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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1798949	chr8:48960737-48976333	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
3	chr8:48935200-48963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:48949800-48963200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:48953800-48974800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:48954200-48965800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:48954400-48967000	Strong transcription	Placenta	Placenta
9	chr8:48954600-48966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:48954600-48975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48954600-48975600	Weak transcription	Pancreas	Pancrea
12	chr8:48954800-48966000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:48954800-48971800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48954800-48975800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48955000-48965800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:48955000-48975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:48955200-48964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:48955200-48965800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:48955400-48969600	Strong transcription	Dnd41	blood
20	chr8:48955600-48961600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:48955600-48961800	Strong transcription	Primary T cells from cord blood	blood
22	chr8:48955600-48965800	Strong transcription	Fetal Thymus	thymus
23	chr8:48955600-48966200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:48955600-48967000	Strong transcription	Adipose Nuclei	Adipose
25	chr8:48955800-48961400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:48955800-48962200	Strong transcription	NH-A	brain
27	chr8:48955800-48965800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:48955800-48975000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:48956000-48961400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:48956000-48962600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:48956000-48965800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:48956000-48967000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:48956000-48974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:48956200-48965400	Strong transcription	Osteobl	bone
35	chr8:48956400-48965800	Strong transcription	Fetal Lung	lung
36	chr8:48956800-48962800	Weak transcription	Right Ventricle	heart
37	chr8:48956800-48965800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr8:48956800-48973200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:48957200-48965200	Weak transcription	Psoas Muscle	Psoas
40	chr8:48957200-48975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:48957600-48974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:48958000-48980600	Weak transcription	Small Intestine	intestine
43	chr8:48958200-48975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:48958400-48961800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:48958400-48961800	Weak transcription	HMEC	breast
46	chr8:48958400-48962200	Weak transcription	Stomach Mucosa	stomach
47	chr8:48958400-48962600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:48958400-48963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:48958400-48963000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:48958400-48963000	Weak transcription	NHEK	skin

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