Variant report

Variant	rs548722476
Chromosome Location	chr8:121767180-121767181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv518569	chr8:121762686-121770556	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv527375	chr8:121763046-121770556	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
2	chr8:121758200-121768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:121758200-121774400	Weak transcription	Left Ventricle	heart
4	chr8:121758400-121769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:121758400-121769400	Weak transcription	HSMM	muscle
6	chr8:121758400-121769400	Weak transcription	NHLF	lung
7	chr8:121758400-121770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:121758400-121771800	Weak transcription	Pancreas	Pancrea
9	chr8:121758400-121774400	Weak transcription	Lung	lung
10	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
11	chr8:121762000-121774200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:121763200-121769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:121763400-121769600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:121763400-121770000	Weak transcription	Liver	Liver
16	chr8:121763800-121769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:121763800-121769800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:121764200-121769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:121764400-121767600	Weak transcription	HSMMtube	muscle
20	chr8:121764400-121769400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:121764400-121769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:121764400-121769400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:121764600-121769200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:121765000-121767400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:121765200-121767200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:121765400-121767400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:121765400-121772200	Genic enhancers	HepG2	liver
29	chr8:121765600-121769600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:121765800-121767600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:121765800-121769400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:121766000-121769400	Weak transcription	Psoas Muscle	Psoas
33	chr8:121766000-121773000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:121766400-121768000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:121766600-121767400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:121766600-121767800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:121766600-121770400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:121766800-121767200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:121767000-121767600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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