Variant report

Variant	rs74023990
Chromosome Location	chr15:75729449-75729450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75729017..75731407-chr15:75735747..75737981,2	K562	blood:
2	chr15:75729411..75731629-chr15:75743824..75745399,2	K562	blood:
3	chr15:75724759..75728030-chr15:75728569..75731229,3	K562	blood:
4	chr15:75724759..75727707-chr15:75728569..75730963,2	K562	blood:
5	chr15:75709627..75711576-chr15:75728092..75730460,2	K562	blood:

Variant related genes	Relation type
ENSG00000169375	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11556266	1.00[AMR][1000 genomes]
rs56318551	1.00[AMR][1000 genomes]
rs56993051	1.00[AMR][1000 genomes]
rs58761842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61135277	1.00[AMR][1000 genomes]
rs74023974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023995	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023998	1.00[AMR][1000 genomes]
rs74026504	1.00[AMR][1000 genomes]
rs74026511	1.00[AMR][1000 genomes]
rs74026512	1.00[AMR][1000 genomes]
rs74026514	1.00[AMR][1000 genomes]
rs8029793	1.00[AMR][1000 genomes]

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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75683000-75730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:75703200-75732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
5	chr15:75705200-75738200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
8	chr15:75708800-75740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:75713200-75731600	Weak transcription	Stomach Mucosa	stomach
10	chr15:75715200-75735400	Weak transcription	Colonic Mucosa	Colon
11	chr15:75715400-75741400	Weak transcription	Small Intestine	intestine
12	chr15:75715600-75742200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:75716200-75738200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:75717000-75742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:75721200-75739600	Weak transcription	Brain Substantia Nigra	brain
16	chr15:75721200-75742600	Weak transcription	Aorta	Aorta
17	chr15:75721800-75735400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:75721800-75739600	Weak transcription	Brain Angular Gyrus	brain
19	chr15:75721800-75742000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:75722000-75741600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:75722200-75738200	Weak transcription	Fetal Kidney	kidney
22	chr15:75722200-75742000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:75722400-75733400	Weak transcription	HUVEC	blood vessel
24	chr15:75722400-75735800	Weak transcription	NHDF-Ad	bronchial
25	chr15:75722600-75741600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:75722600-75742000	Weak transcription	Brain Anterior Caudate	brain
27	chr15:75722800-75730200	Weak transcription	Ovary	ovary
28	chr15:75722800-75733800	Weak transcription	Thymus	Thymus
29	chr15:75722800-75734000	Weak transcription	Fetal Brain Female	brain
30	chr15:75722800-75734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:75722800-75734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:75722800-75734800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:75722800-75735400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:75722800-75735600	Weak transcription	Fetal Lung	lung
35	chr15:75722800-75735600	Weak transcription	NHLF	lung
36	chr15:75722800-75735800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:75722800-75735800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:75722800-75738200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:75722800-75738600	Weak transcription	Spleen	Spleen
40	chr15:75722800-75741000	Weak transcription	Brain Germinal Matrix	brain
41	chr15:75722800-75741400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:75722800-75741600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:75722800-75741600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:75722800-75742000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:75722800-75742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:75722800-75742200	Weak transcription	Gastric	stomach
47	chr15:75722800-75742200	Weak transcription	Pancreas	Pancrea
48	chr15:75722800-75742200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:75722800-75742200	Weak transcription	HSMMtube	muscle
50	chr15:75723000-75735400	Weak transcription	Placenta	Placenta

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