Variant report

Variant	rs56993051
Chromosome Location	chr15:75896435-75896436
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	chr15:75886795..75888926-chr15:75894975..75897401,2	K562	blood:

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];1.00[EUR][1000 genomes]
rs56318551	1.00[AMR][1000 genomes]
rs58761842	1.00[AMR][1000 genomes]
rs61135277	1.00[AMR][1000 genomes]
rs74023974	1.00[AMR][1000 genomes]
rs74023990	1.00[AMR][1000 genomes]
rs74023995	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];1.00[EUR][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	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
9	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 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	chr15:75872400-75898600	Weak transcription	Small Intestine	intestine
2	chr15:75876800-75899200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:75877600-75901800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:75880400-75912400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:75882200-75910400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:75882800-75911400	Strong transcription	Fetal Muscle Leg	muscle
7	chr15:75883400-75911800	Strong transcription	Fetal Stomach	stomach
8	chr15:75883600-75901000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75883800-75903600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:75883800-75911600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:75883800-75911800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr15:75884800-75898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:75886000-75898000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:75886000-75898200	Strong transcription	Fetal Thymus	thymus
15	chr15:75886000-75912400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:75886200-75903200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:75886400-75905400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:75886600-75897800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:75886600-75903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:75887600-75912400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:75887800-75898600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:75889400-75917600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:75889600-75896800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:75889800-75898600	Weak transcription	Esophagus	oesophagus
25	chr15:75889800-75912600	Weak transcription	Right Atrium	heart
26	chr15:75889800-75917600	Weak transcription	Fetal Heart	heart
27	chr15:75890600-75898600	Weak transcription	HepG2	liver
28	chr15:75890600-75899600	Weak transcription	Fetal Kidney	kidney
29	chr15:75890600-75903200	Strong transcription	Adipose Nuclei	Adipose
30	chr15:75890600-75917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:75890800-75896800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:75890800-75897400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:75891000-75899200	Weak transcription	Fetal Brain Male	brain
34	chr15:75891000-75917200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:75891800-75896800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:75891800-75896800	Weak transcription	Brain Angular Gyrus	brain
37	chr15:75891800-75912400	Weak transcription	Stomach Mucosa	stomach
38	chr15:75892000-75898200	Weak transcription	Colonic Mucosa	Colon
39	chr15:75892000-75898200	Weak transcription	Psoas Muscle	Psoas
40	chr15:75892000-75898400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:75892000-75903600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:75892000-75913200	Strong transcription	Liver	Liver
43	chr15:75892600-75903200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:75892800-75898800	Strong transcription	HSMMtube	muscle
45	chr15:75892800-75899000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:75892800-75899000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:75893200-75901800	Weak transcription	HMEC	breast
48	chr15:75893400-75897000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:75893400-75897600	Weak transcription	Pancreas	Pancrea
50	chr15:75893400-75897800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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