Variant report

Variant	rs74087085
Chromosome Location	chr13:52746248-52746249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55901035	1.00[AFR][1000 genomes]
rs61643838	1.00[AFR][1000 genomes]
rs74085722	0.81[AFR][1000 genomes]
rs74087081	1.00[AFR][1000 genomes]
rs74087089	1.00[AFR][1000 genomes]
rs74087098	0.94[AFR][1000 genomes]
rs74089403	1.00[AFR][1000 genomes]
rs74089404	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv976116	chr13:52741751-52768674	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52733800-52757000	Weak transcription	Spleen	Spleen
2	chr13:52734000-52760000	Weak transcription	Gastric	stomach
3	chr13:52734200-52747800	Weak transcription	Fetal Brain Male	brain
4	chr13:52734200-52751800	Weak transcription	Psoas Muscle	Psoas
5	chr13:52734200-52752400	Weak transcription	GM12878-XiMat	blood
6	chr13:52734200-52754000	Weak transcription	Right Ventricle	heart
7	chr13:52734200-52754000	Weak transcription	Hela-S3	cervix
8	chr13:52734400-52751200	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:52734400-52753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:52734400-52753600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:52734400-52754000	Weak transcription	NHEK	skin
12	chr13:52734400-52761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:52734400-52768000	Weak transcription	Aorta	Aorta
14	chr13:52734600-52766000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:52735200-52747400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr13:52735600-52754000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:52736400-52754000	Weak transcription	Colonic Mucosa	Colon
18	chr13:52736400-52767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:52736600-52754200	Weak transcription	Fetal Heart	heart
20	chr13:52736800-52765600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:52737200-52747600	Weak transcription	HSMMtube	muscle
22	chr13:52737200-52748800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:52737200-52767400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:52737400-52751400	Weak transcription	A549	lung
25	chr13:52737400-52754000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr13:52737800-52754000	Weak transcription	Lung	lung
27	chr13:52738200-52747000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:52738200-52753400	Weak transcription	NHLF	lung
29	chr13:52738400-52754000	Weak transcription	NHDF-Ad	bronchial
30	chr13:52738400-52767400	Weak transcription	HMEC	breast
31	chr13:52739200-52761400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:52739600-52747000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:52739600-52747200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:52739600-52760400	Strong transcription	Fetal Thymus	thymus
35	chr13:52739800-52747000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:52739800-52750000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:52739800-52758000	Weak transcription	Stomach Mucosa	stomach
38	chr13:52740000-52747200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:52740000-52754000	Weak transcription	K562	blood
40	chr13:52740000-52755200	Weak transcription	HUVEC	blood vessel
41	chr13:52740000-52762800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:52740000-52764600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:52740000-52767200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:52740200-52747600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:52740200-52754800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:52740600-52756600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:52741000-52767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:52741200-52750200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:52741200-52750400	Strong transcription	Dnd41	blood
50	chr13:52741200-52763600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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