Variant report

Variant	rs7400215
Chromosome Location	chr13:52758828-52758829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000892	0.85[AMR][1000 genomes]
rs17404248	0.85[AMR][1000 genomes]
rs17482550	0.85[AMR][1000 genomes]
rs17482660	0.85[AMR][1000 genomes]
rs17536694	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1886540	0.85[AMR][1000 genomes]
rs1886541	0.85[AMR][1000 genomes]
rs4480685	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943065	1.00[AMR][1000 genomes]
rs55696957	0.86[AMR][1000 genomes]
rs55969405	0.85[AMR][1000 genomes]
rs57604069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59763550	1.00[AMR][1000 genomes]
rs59924615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61247071	0.96[AMR][1000 genomes]
rs7317742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7325357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500202	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502323	1.00[AMR][1000 genomes];1.00[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52734000-52760000	Weak transcription	Gastric	stomach
2	chr13:52734400-52761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:52734400-52768000	Weak transcription	Aorta	Aorta
4	chr13:52734600-52766000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:52736400-52767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:52736800-52765600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:52737200-52767400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:52738400-52767400	Weak transcription	HMEC	breast
9	chr13:52739200-52761400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:52739600-52760400	Strong transcription	Fetal Thymus	thymus
11	chr13:52740000-52762800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:52740000-52764600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:52740000-52767200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:52741000-52767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:52741200-52763600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:52741400-52759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:52741800-52760200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr13:52743400-52767600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:52743400-52767800	Weak transcription	Esophagus	oesophagus
20	chr13:52743400-52768200	Weak transcription	Small Intestine	intestine
21	chr13:52745600-52767400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr13:52747400-52767200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:52749200-52765600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr13:52751400-52760400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:52752400-52760200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:52752600-52767200	Weak transcription	Psoas Muscle	Psoas
27	chr13:52753800-52759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:52754400-52767200	Weak transcription	Colonic Mucosa	Colon
29	chr13:52754400-52767800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:52754600-52759800	Weak transcription	Pancreas	Pancrea
31	chr13:52754600-52760000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr13:52754600-52761000	Weak transcription	Fetal Heart	heart
33	chr13:52754600-52761200	Weak transcription	Brain Substantia Nigra	brain
34	chr13:52754600-52761600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:52754600-52761600	Weak transcription	Left Ventricle	heart
36	chr13:52754600-52761800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:52754600-52762600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr13:52754600-52765400	Weak transcription	Fetal Brain Male	brain
39	chr13:52754600-52766000	Weak transcription	Fetal Lung	lung
40	chr13:52754600-52767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:52754600-52767200	Weak transcription	Fetal Kidney	kidney
42	chr13:52754600-52767200	Weak transcription	NHEK	skin
43	chr13:52754600-52767400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:52754600-52767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:52754600-52767400	Weak transcription	Right Ventricle	heart
46	chr13:52754600-52767400	Weak transcription	NHDF-Ad	bronchial
47	chr13:52754600-52767800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:52754600-52767800	Weak transcription	Lung	lung
49	chr13:52754800-52759800	Weak transcription	NHLF	lung
50	chr13:52754800-52761000	Weak transcription	HSMM	muscle

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