Variant report

Variant	rs13306588
Chromosome Location	chr5:142779508-142779509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142766873..142770437-chr5:142777323..142782250,4	K562	blood:
2	chr15:90744277..90745268-chr5:142779438..142780285,2	Hela-S3	cervix:
3	chr5:142777158..142779623-chr5:142783296..142786191,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction
ENSG00000185033	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10035222	1.00[ASN][1000 genomes]
rs10042644	0.94[ASN][1000 genomes]
rs10043707	1.00[ASN][1000 genomes]
rs10055444	1.00[ASN][1000 genomes]
rs10076037	0.94[ASN][1000 genomes]
rs10076665	1.00[ASN][1000 genomes]
rs10482604	0.89[ASN][1000 genomes]
rs10482617	1.00[ASN][1000 genomes]
rs10482645	0.94[ASN][1000 genomes]
rs10482646	0.94[ASN][1000 genomes]
rs10482701	1.00[ASN][1000 genomes]
rs12386466	0.94[ASN][1000 genomes]
rs13306584	1.00[ASN][1000 genomes]
rs13306586	1.00[ASN][1000 genomes]
rs13353867	0.94[ASN][1000 genomes]
rs13355103	0.94[ASN][1000 genomes]
rs13358709	1.00[ASN][1000 genomes]
rs2301177	0.88[ASN][1000 genomes]
rs3822376	1.00[ASN][1000 genomes]
rs61751160	1.00[ASN][1000 genomes]
rs66697623	1.00[ASN][1000 genomes]
rs67300719	1.00[ASN][1000 genomes]
rs67902340	1.00[ASN][1000 genomes]
rs72481837	1.00[ASN][1000 genomes]
rs72481854	1.00[ASN][1000 genomes]
rs72542755	1.00[ASN][1000 genomes]
rs72542756	1.00[ASN][1000 genomes]
rs72542757	1.00[ASN][1000 genomes]
rs72542758	1.00[ASN][1000 genomes]
rs72542769	0.88[ASN][1000 genomes]
rs72557305	1.00[ASN][1000 genomes]
rs72557310	0.89[ASN][1000 genomes]
rs9324914	1.00[ASN][1000 genomes]
rs9324915	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv882994	chr5:142770135-142791677	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3471370	chr5:142778742-142786304	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv3471371	chr5:142778742-142786304	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142764800-142779800	Weak transcription	Esophagus	oesophagus
2	chr5:142766200-142779800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:142774400-142782600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr5:142774600-142779800	Active TSS	Psoas Muscle	Psoas
5	chr5:142774600-142779800	Active TSS	Hela-S3	cervix
6	chr5:142775000-142779800	Active TSS	Right Atrium	heart
7	chr5:142775200-142779800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:142775400-142779600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:142775400-142779600	Weak transcription	Small Intestine	intestine
10	chr5:142775400-142785200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr5:142775400-142785600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:142775600-142780000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:142775600-142785400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:142775600-142785600	Active TSS	Brain Angular Gyrus	brain
15	chr5:142775800-142782000	Flanking Active TSS	HUVEC	blood vessel
16	chr5:142776000-142779800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:142776000-142785600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:142776200-142785400	Active TSS	Brain Substantia Nigra	brain
19	chr5:142776400-142779600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr5:142777000-142782000	Flanking Active TSS	Liver	Liver
21	chr5:142777200-142785600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:142778000-142780400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
23	chr5:142778200-142779600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
24	chr5:142778200-142779600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:142778200-142780000	Transcr. at gene 5' and 3'	HSMM	muscle
26	chr5:142778200-142780200	Transcr. at gene 5' and 3'	A549	lung
27	chr5:142778200-142780400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr5:142778200-142780600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr5:142778200-142780800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:142778200-142782000	Flanking Active TSS	HepG2	liver
31	chr5:142778200-142785600	Active TSS	Right Ventricle	heart
32	chr5:142778400-142779800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:142778400-142780000	Transcr. at gene 5' and 3'	Fetal Lung	lung
34	chr5:142778400-142780200	Strong transcription	Placenta	Placenta
35	chr5:142778400-142780800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:142778400-142781800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:142778600-142780000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:142778600-142780000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:142778600-142780200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr5:142778600-142780200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:142778600-142780400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:142778600-142780400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:142778800-142779800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:142778800-142780000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:142778800-142780000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:142778800-142780000	Transcr. at gene 5' and 3'	NHLF	lung
47	chr5:142778800-142780200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
48	chr5:142778800-142780200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
49	chr5:142778800-142780400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:142778800-142780600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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