Variant report

Variant	rs536629745
Chromosome Location	chr5:80039142-80039143
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	chr5:80037673..80040180-chr5:80041724..80043990,2	K562	blood:

Variant related genes	Relation type
ENSG00000248967	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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS 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
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2452635	chr5:80038541-80040159	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3421113	chr5:80038646-80040644	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv7059	chr5:80039130-80039914	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
5	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80004000-80050400	Weak transcription	NHDF-Ad	bronchial
7	chr5:80016000-80040600	Weak transcription	Small Intestine	intestine
8	chr5:80016200-80040600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:80016200-80040600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:80016200-80043600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:80016400-80050800	Weak transcription	Psoas Muscle	Psoas
12	chr5:80020200-80043600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:80022200-80040000	Weak transcription	K562	blood
14	chr5:80022800-80040600	Weak transcription	Spleen	Spleen
15	chr5:80022800-80041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:80023000-80040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:80023000-80040600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:80023000-80040600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:80023000-80040600	Weak transcription	HUVEC	blood vessel
21	chr5:80023000-80041400	Weak transcription	Fetal Brain Female	brain
22	chr5:80023000-80043000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:80023000-80043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:80024000-80041400	Weak transcription	NH-A	brain
25	chr5:80024200-80040600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:80024200-80040600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:80024200-80046800	Weak transcription	Brain Angular Gyrus	brain
28	chr5:80024400-80043400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:80026000-80039800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:80026000-80042000	Weak transcription	GM12878-XiMat	blood
31	chr5:80026200-80040600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:80026400-80040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:80032400-80045400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:80032800-80043600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:80033200-80051400	Weak transcription	HMEC	breast
36	chr5:80034200-80049400	Strong transcription	Primary T cells from cord blood	blood
37	chr5:80034800-80050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:80035000-80050400	Weak transcription	Stomach Mucosa	stomach
39	chr5:80035200-80042200	Weak transcription	HSMMtube	muscle
40	chr5:80036200-80041400	Weak transcription	NHLF	lung
41	chr5:80036400-80039400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:80036400-80043800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:80037000-80042400	Strong transcription	Fetal Thymus	thymus
44	chr5:80037200-80040800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:80037200-80049800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:80037200-80050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:80037400-80042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:80037400-80045800	Strong transcription	Liver	Liver
49	chr5:80037400-80049000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:80037400-80050600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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