Variant report

Variant	rs547514057
Chromosome Location	chr5:81075609-81075610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81069624..81072338-chr5:81075602..81078025,2	K562	blood:
2	chr5:81073239..81075996-chr5:81079626..81082317,4	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	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv980937	chr5:81075334-81097245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:81069000-81075800	Weak transcription	Left Ventricle	heart
3	chr5:81072400-81083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:81074200-81075800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:81074200-81075800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:81074200-81075800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:81074200-81075800	Enhancers	Small Intestine	intestine
8	chr5:81074200-81075800	Flanking Active TSS	K562	blood
9	chr5:81074200-81076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:81074400-81075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:81074400-81075800	Enhancers	Fetal Intestine Large	intestine
12	chr5:81074400-81075800	Flanking Active TSS	Dnd41	blood
13	chr5:81074400-81076000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:81074400-81076000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:81074600-81075800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr5:81074600-81076000	Enhancers	Pancreas	Pancrea
17	chr5:81074800-81075800	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:81075000-81076000	Enhancers	Esophagus	oesophagus
19	chr5:81075200-81075800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr5:81075200-81075800	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr5:81075200-81075800	Enhancers	Fetal Stomach	stomach
22	chr5:81075200-81075800	Enhancers	HMEC	breast
23	chr5:81075200-81075800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:81075200-81076000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr5:81075200-81076000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:81075200-81076000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr5:81075200-81076000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr5:81075200-81076000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:81075200-81076000	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr5:81075200-81076000	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr5:81075200-81076000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:81075200-81076000	Enhancers	Fetal Muscle Trunk	muscle
33	chr5:81075200-81076000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr5:81075200-81076200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:81075200-81076200	Enhancers	Aorta	Aorta
36	chr5:81075200-81083800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:81075200-81083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:81075400-81075800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:81075400-81075800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:81075400-81075800	Enhancers	Fetal Intestine Small	intestine
41	chr5:81075400-81075800	Enhancers	Fetal Lung	lung
42	chr5:81075400-81075800	Flanking Active TSS	Thymus	Thymus
43	chr5:81075400-81076000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr5:81075400-81076000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:81075400-81076000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:81075400-81076000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:81075400-81076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:81075400-81076000	Enhancers	Liver	Liver
49	chr5:81075400-81076000	Enhancers	Fetal Thymus	thymus
50	chr5:81075400-81076000	Enhancers	Lung	lung

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