Variant report

Variant	rs552011940
Chromosome Location	chr8:95262438-95262439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:95254200-95268600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:95254400-95264000	Weak transcription	Small Intestine	intestine
6	chr8:95254600-95262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
8	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
9	chr8:95254800-95271800	Weak transcription	Colonic Mucosa	Colon
10	chr8:95255000-95263800	Weak transcription	HSMMtube	muscle
11	chr8:95255200-95262600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:95255200-95262600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:95255200-95266400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:95255200-95270200	Weak transcription	HSMM	muscle
15	chr8:95255200-95271000	Weak transcription	Stomach Mucosa	stomach
16	chr8:95255400-95262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:95256600-95262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:95256600-95262600	Weak transcription	Right Ventricle	heart
19	chr8:95256800-95271400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:95257000-95266400	Weak transcription	Right Atrium	heart
21	chr8:95257000-95268000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:95257000-95270400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:95257000-95270600	Weak transcription	Esophagus	oesophagus
24	chr8:95257000-95270600	Weak transcription	Pancreas	Pancrea
25	chr8:95257000-95272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:95257600-95263800	Weak transcription	Fetal Heart	heart
27	chr8:95257600-95265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:95259200-95270800	Weak transcription	Fetal Thymus	thymus
29	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
30	chr8:95259800-95265800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:95259800-95266000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr8:95260800-95263200	Genic enhancers	NHDF-Ad	bronchial
33	chr8:95260800-95263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:95260800-95265000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:95260800-95267800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:95260800-95271000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:95261000-95265200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:95261000-95266400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:95261000-95270800	Strong transcription	Fetal Intestine Large	intestine
40	chr8:95261000-95272400	Weak transcription	Psoas Muscle	Psoas
41	chr8:95261000-95272600	Weak transcription	Placenta	Placenta
42	chr8:95261200-95263600	Weak transcription	Brain Germinal Matrix	brain
43	chr8:95261200-95265800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:95261200-95270600	Weak transcription	Brain Substantia Nigra	brain
45	chr8:95261200-95272200	Weak transcription	Liver	Liver
46	chr8:95261400-95265800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:95261400-95269000	Strong transcription	NH-A	brain
48	chr8:95261400-95269600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr8:95261600-95265200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:95261600-95265200	Strong transcription	HMEC	breast

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