Variant report

Variant	rs74023995
Chromosome Location	chr15:75739803-75739804
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	chr15:75657601..75665504-chr15:75739437..75749700,27	K562	blood:
2	chr15:75656095..75662590-chr15:75739456..75750037,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140400	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11556266	1.00[AMR][1000 genomes]
rs56318551	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56993051	1.00[AMR][1000 genomes]
rs58761842	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61135277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023974	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023998	1.00[AMR][1000 genomes]
rs74026504	0.94[AFR][1000 genomes];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:10 , 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
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
2	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
4	chr15:75708800-75740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:75715400-75741400	Weak transcription	Small Intestine	intestine
6	chr15:75715600-75742200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:75717000-75742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:75721200-75742600	Weak transcription	Aorta	Aorta
9	chr15:75721800-75742000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:75722000-75741600	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:75722200-75742000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:75722600-75741600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:75722600-75742000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:75722800-75741000	Weak transcription	Brain Germinal Matrix	brain
15	chr15:75722800-75741400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:75722800-75741600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:75722800-75741600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:75722800-75742000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:75722800-75742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:75722800-75742200	Weak transcription	Gastric	stomach
21	chr15:75722800-75742200	Weak transcription	Pancreas	Pancrea
22	chr15:75722800-75742200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:75722800-75742200	Weak transcription	HSMMtube	muscle
24	chr15:75723000-75740200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:75723000-75742600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:75728800-75741800	Weak transcription	Adipose Nuclei	Adipose
27	chr15:75728800-75742600	Weak transcription	Esophagus	oesophagus
28	chr15:75730600-75740000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:75730800-75740200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:75730800-75742200	Weak transcription	Psoas Muscle	Psoas
31	chr15:75732000-75740800	Strong transcription	Fetal Intestine Small	intestine
32	chr15:75733000-75740400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:75735600-75742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:75735600-75742600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:75735800-75740000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:75735800-75742000	Weak transcription	Fetal Brain Female	brain
37	chr15:75735800-75742400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr15:75736000-75742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:75736000-75742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:75736000-75742800	Weak transcription	Lung	lung
41	chr15:75736200-75741400	Weak transcription	Liver	Liver
42	chr15:75736200-75741400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:75736200-75742000	Weak transcription	Colonic Mucosa	Colon
44	chr15:75736200-75742000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:75736200-75742200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:75736200-75742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:75736200-75742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:75736400-75742200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr15:75736600-75741400	Weak transcription	HepG2	liver
50	chr15:75736600-75741400	Weak transcription	HMEC	breast

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