Variant report

Variant	rs2066550
Chromosome Location	chr13:50590871-50590872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50586557..50588061-chr13:50589574..50592022,2	K562	blood:
2	chr13:50573435..50577659-chr13:50588314..50591580,3	K562	blood:
3	chr13:50569315..50571977-chr13:50588593..50590941,4	K562	blood:

Variant related genes	Relation type
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction

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

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

rs_ID	r²[population]
rs2472395	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2476389	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2476391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2490636	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2490637	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2490638	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2490639	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34047395	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs706609	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs706615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs706617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73489867	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790529	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790531	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs790928	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs790931	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs790934	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs790935	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs790937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs790939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs790940	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs790941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.93[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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50573000-50594600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50574000-50599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:50574200-50591000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr13:50577600-50594200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:50577600-50594400	Weak transcription	Fetal Brain Male	brain
6	chr13:50578000-50596000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:50578600-50604200	Strong transcription	Dnd41	blood
8	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
10	chr13:50579000-50597200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:50579000-50598000	Weak transcription	Pancreas	Pancrea
12	chr13:50581800-50602800	Strong transcription	Fetal Thymus	thymus
13	chr13:50582200-50603600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr13:50582600-50591200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr13:50584000-50592400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr13:50584400-50599800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:50585000-50591200	Strong transcription	GM12878-XiMat	blood
18	chr13:50586800-50594600	Weak transcription	Lung	lung
19	chr13:50586800-50595600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:50586800-50601800	Weak transcription	Gastric	stomach
21	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:50587000-50594200	Weak transcription	A549	lung
23	chr13:50587000-50594400	Weak transcription	Fetal Kidney	kidney
24	chr13:50587000-50594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:50587000-50594600	Weak transcription	Colonic Mucosa	Colon
26	chr13:50587000-50598200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:50587000-50603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
29	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
30	chr13:50587200-50592000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:50587200-50593000	Weak transcription	Brain Germinal Matrix	brain
32	chr13:50587200-50593000	Weak transcription	Thymus	Thymus
33	chr13:50587200-50597600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:50587200-50617000	Weak transcription	HepG2	liver
35	chr13:50587400-50591800	Enhancers	Fetal Heart	heart
36	chr13:50587400-50593200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:50587400-50593400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:50587400-50593600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:50587400-50597400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:50587400-50607600	Weak transcription	Psoas Muscle	Psoas
41	chr13:50587600-50592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:50587600-50594000	Weak transcription	Placenta	Placenta
43	chr13:50587800-50591000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:50587800-50597400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:50588000-50593000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:50588000-50645600	Weak transcription	Ovary	ovary
47	chr13:50588200-50592800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr13:50588400-50594400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:50588400-50594400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:50588600-50591000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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