Variant report

Variant	rs17074530
Chromosome Location	chr13:51095791-51095792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12584983	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1327651	0.82[AFR][1000 genomes]
rs1638703	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs17074548	0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs183949	0.81[CHB][hapmap]
rs201748	0.98[ASN][1000 genomes]
rs2148936	0.81[ASN][1000 genomes]
rs2286658	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs279077	0.90[JPT][hapmap]
rs59806618	0.83[ASN][1000 genomes]
rs60462956	0.80[ASN][1000 genomes]
rs9596303	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9596305	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[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	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
3	chr13:51090200-51099200	Enhancers	Liver	Liver
4	chr13:51091000-51096600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:51092400-51098400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:51093200-51097800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:51093400-51095800	Weak transcription	Osteobl	bone
8	chr13:51093400-51096200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:51093400-51097200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:51093400-51100000	Weak transcription	Lung	lung
11	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
12	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
13	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
14	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
15	chr13:51093600-51096000	Enhancers	Brain Substantia Nigra	brain
16	chr13:51093600-51101600	Weak transcription	HSMM	muscle
17	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
19	chr13:51094000-51096200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr13:51094000-51096200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr13:51094000-51097000	Enhancers	HepG2	liver
22	chr13:51094000-51097800	Enhancers	Fetal Muscle Leg	muscle
23	chr13:51094200-51097200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr13:51094400-51096400	Enhancers	Fetal Thymus	thymus
25	chr13:51094400-51097800	Enhancers	Fetal Kidney	kidney
26	chr13:51094600-51096600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:51094600-51096600	Enhancers	Psoas Muscle	Psoas
28	chr13:51094600-51097800	Enhancers	Colon Smooth Muscle	Colon
29	chr13:51094800-51096400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
31	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:51095200-51095800	Enhancers	Gastric	stomach
33	chr13:51095200-51096000	Enhancers	Small Intestine	intestine
34	chr13:51095200-51096400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:51095200-51096600	Enhancers	Stomach Mucosa	stomach
36	chr13:51095200-51098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:51095200-51098000	Enhancers	Adipose Nuclei	Adipose
38	chr13:51095200-51098000	Enhancers	Fetal Heart	heart
39	chr13:51095400-51095800	Enhancers	Right Ventricle	heart
40	chr13:51095400-51096000	Enhancers	Ovary	ovary
41	chr13:51095400-51096000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr13:51095400-51096000	Enhancers	NHLF	lung
43	chr13:51095400-51096600	Enhancers	Fetal Intestine Large	intestine
44	chr13:51095400-51096600	Enhancers	Placenta	Placenta
45	chr13:51095400-51096600	Enhancers	Stomach Smooth Muscle	stomach
46	chr13:51095400-51096800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:51095400-51097200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:51095400-51097800	Enhancers	Fetal Stomach	stomach
49	chr13:51095400-51098200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:51095600-51095800	Enhancers	Primary neutrophils fromperipheralblood	blood

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