Variant report

Variant	rs34348643
Chromosome Location	chr13:76358870-76358871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr13:76357710-76359328	SK-N-SH	brain:	n/a	chr13:76357994-76358004 chr13:76357888-76357898

Variant related genes	Relation type
LMO7	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859043	1.00[ASN][1000 genomes]
rs12871921	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12877821	1.00[ASN][1000 genomes]
rs1323570	0.86[ASN][1000 genomes]
rs1470273	1.00[ASN][1000 genomes]
rs17065026	0.87[ASN][1000 genomes]
rs17065046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17065075	0.96[EUR][1000 genomes]
rs17065126	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17065132	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34083520	1.00[ASN][1000 genomes]
rs34295825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34713814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034793	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35353403	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35843177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884019	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885347	1.00[ASN][1000 genomes]
rs4885350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579540	0.86[ASN][1000 genomes]
rs71434807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
2	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
3	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
4	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:76346800-76361600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:76347400-76361400	Weak transcription	HMEC	breast
7	chr13:76347800-76361400	Weak transcription	Gastric	stomach
8	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:76350600-76361200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:76351400-76360200	Weak transcription	Right Ventricle	heart
11	chr13:76353400-76362800	Weak transcription	Lung	lung
12	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
13	chr13:76355200-76362400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:76357000-76360200	Weak transcription	Left Ventricle	heart
16	chr13:76357000-76361400	Weak transcription	NH-A	brain
17	chr13:76357000-76362400	Weak transcription	Esophagus	oesophagus
18	chr13:76357000-76362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:76357000-76363000	Weak transcription	Fetal Kidney	kidney
20	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:76357200-76359600	Enhancers	Hela-S3	cervix
22	chr13:76357200-76360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:76357200-76363000	Weak transcription	Brain Anterior Caudate	brain
24	chr13:76357400-76359000	Enhancers	Fetal Intestine Small	intestine
25	chr13:76357400-76360400	Enhancers	Liver	Liver
26	chr13:76357600-76360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:76357800-76360200	Weak transcription	Right Atrium	heart
28	chr13:76357800-76362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:76357800-76363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:76358200-76359200	Enhancers	HSMM	muscle
31	chr13:76358200-76360200	Weak transcription	Placenta	Placenta
32	chr13:76358200-76360200	Enhancers	Osteobl	bone
33	chr13:76358200-76361400	Weak transcription	HepG2	liver
34	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:76358200-76371400	Weak transcription	NHEK	skin
36	chr13:76358400-76359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:76358400-76359400	Enhancers	A549	lung
38	chr13:76358400-76360000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr13:76358400-76360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:76358400-76360400	Weak transcription	NHLF	lung
41	chr13:76358400-76361200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:76358400-76361200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:76358400-76361400	Weak transcription	Ovary	ovary
44	chr13:76358400-76362600	Weak transcription	Small Intestine	intestine
45	chr13:76358400-76362800	Weak transcription	Pancreas	Pancrea
46	chr13:76358400-76363000	Weak transcription	Psoas Muscle	Psoas
47	chr13:76358600-76359200	Enhancers	Fetal Heart	heart
48	chr13:76358600-76359600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:76358600-76360200	Weak transcription	Fetal Intestine Large	intestine
50	chr13:76358600-76360200	Weak transcription	Fetal Lung	lung

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