Variant report

Variant	rs790528
Chromosome Location	chr13:50726454-50726455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50699701..50701287-chr13:50725800..50728308,2	K562	blood:
2	chr13:50641977..50644560-chr13:50723615..50726580,2	K562	blood:
3	chr13:50724073..50728700-chr13:50729258..50733237,4	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2066550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2472395	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476389	0.82[EUR][1000 genomes]
rs2476391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490636	0.82[EUR][1000 genomes]
rs2490637	0.82[EUR][1000 genomes]
rs2490638	0.82[EUR][1000 genomes]
rs2490639	0.82[EUR][1000 genomes]
rs2687933	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687934	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687935	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687936	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812223	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34047395	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489867	0.82[EUR][1000 genomes]
rs790529	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790531	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790928	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790931	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790934	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790935	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790941	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][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	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	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats 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
7	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50718400-50727800	Weak transcription	Stomach Mucosa	stomach
2	chr13:50721200-50726600	Weak transcription	HepG2	liver
3	chr13:50724400-50726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:50724400-50726800	Weak transcription	Left Ventricle	heart
5	chr13:50724400-50729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:50724400-50729400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:50724400-50730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:50724400-50730400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:50724400-50733400	Weak transcription	Psoas Muscle	Psoas
10	chr13:50724600-50726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:50724600-50726600	Weak transcription	K562	blood
12	chr13:50725600-50727400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:50725800-50728200	Flanking Active TSS	Dnd41	blood
14	chr13:50726200-50726600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:50726200-50726600	Active TSS	Muscle Satellite Cultured Cells	--
16	chr13:50726200-50726600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr13:50726200-50726600	Active TSS	NHDF-Ad	bronchial
18	chr13:50726200-50726600	Active TSS	NHLF	lung
19	chr13:50726200-50726800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr13:50726200-50727000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:50726200-50727000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr13:50726200-50727600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:50726200-50727600	Active TSS	Duodenum Mucosa	Duodenum
24	chr13:50726200-50727600	Flanking Active TSS	Osteobl	bone
25	chr13:50726400-50726600	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr13:50726400-50726600	Active TSS	Primary T cells from cord blood	blood
27	chr13:50726400-50726600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr13:50726400-50726600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:50726400-50726600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr13:50726400-50726600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:50726400-50726600	Active TSS	Liver	Liver
32	chr13:50726400-50726600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr13:50726400-50726600	Active TSS	Fetal Lung	lung
34	chr13:50726400-50726600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr13:50726400-50726800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:50726400-50726800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:50726400-50726800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr13:50726400-50726800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr13:50726400-50726800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr13:50726400-50726800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:50726400-50726800	Enhancers	Aorta	Aorta
42	chr13:50726400-50726800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr13:50726400-50726800	Enhancers	Thymus	Thymus
44	chr13:50726400-50727000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:50726400-50727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:50726400-50727000	Active TSS	Adipose Nuclei	Adipose
47	chr13:50726400-50727000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr13:50726400-50727000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr13:50726400-50727000	Flanking Active TSS	HSMM	muscle
50	chr13:50726400-50727000	Enhancers	HSMMtube	muscle

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