Variant report

Variant	rs56285935
Chromosome Location	chr13:50805081-50805082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2472595	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs57938299	1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58364236	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59563441	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60147627	1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs61495306	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7330228	1.00[EUR][1000 genomes]
rs7336462	1.00[EUR][1000 genomes]
rs7337343	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495865	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495869	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495873	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495876	1.00[AFR][1000 genomes]
rs73495880	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495885	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495888	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[EUR][1000 genomes]
rs73500236	1.00[EUR][1000 genomes]
rs73500241	1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[EUR][1000 genomes]
rs73500290	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs74079217	1.00[EUR][1000 genomes]
rs74079242	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7992306	1.00[EUR][1000 genomes]
rs7996036	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv974246	chr13:50798236-50805245	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50800400-50814400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:50802800-50805800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:50802800-50809200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:50803000-50806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:50803000-50807800	Weak transcription	Fetal Thymus	thymus
6	chr13:50803400-50805200	Enhancers	HepG2	liver
7	chr13:50803800-50805400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:50803800-50805400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr13:50803800-50805600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:50804000-50805200	Enhancers	Duodenum Mucosa	Duodenum
11	chr13:50804000-50805200	Enhancers	Small Intestine	intestine
12	chr13:50804200-50805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:50804200-50805200	Enhancers	Liver	Liver
14	chr13:50804200-50805200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr13:50804200-50805400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:50804400-50805200	Enhancers	Fetal Kidney	kidney
17	chr13:50804400-50818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:50804600-50805200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:50804600-50805200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:50804600-50805200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:50804600-50805200	Enhancers	Dnd41	blood
22	chr13:50804600-50805200	Enhancers	Osteobl	bone
23	chr13:50804600-50805800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr13:50805000-50809600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:50805000-50809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:50805000-50818600	Weak transcription	Psoas Muscle	Psoas

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