Variant report

Variant	rs9596303
Chromosome Location	chr13:51099414-51099415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51097678..51099564-chr13:51483558..51485303,2	K562	blood:
2	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:

Variant related genes	Relation type
ENSG00000233672	Chromatin interaction
ENSG00000136104	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12584983	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17074530	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17074548	0.83[ASN][1000 genomes]
rs201748	0.90[ASN][1000 genomes]
rs2148936	0.82[ASN][1000 genomes]
rs2286658	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs279077	0.82[ASN][1000 genomes]
rs59806618	0.88[ASN][1000 genomes]
rs60462956	0.82[ASN][1000 genomes]
rs9596305	0.85[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:57 , 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	chr13:51093400-51100000	Weak transcription	Lung	lung
4	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
5	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
6	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
7	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
8	chr13:51093600-51101600	Weak transcription	HSMM	muscle
9	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
12	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:51095600-51100600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
15	chr13:51096000-51100800	Weak transcription	Brain Substantia Nigra	brain
16	chr13:51096000-51100800	Weak transcription	NHLF	lung
17	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:51096000-51103200	Weak transcription	Ovary	ovary
19	chr13:51096200-51101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:51096400-51099600	Weak transcription	Dnd41	blood
22	chr13:51096400-51099800	Weak transcription	Fetal Thymus	thymus
23	chr13:51096400-51100200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:51096400-51100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:51096600-51099800	Weak transcription	Thymus	Thymus
28	chr13:51096600-51100600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr13:51096600-51100800	Weak transcription	Brain Anterior Caudate	brain
30	chr13:51096600-51100800	Weak transcription	Placenta	Placenta
31	chr13:51096600-51100800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:51096600-51101000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
34	chr13:51096800-51100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:51096800-51100600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr13:51097200-51100800	Weak transcription	Psoas Muscle	Psoas
37	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:51097600-51100800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:51097600-51100800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
41	chr13:51097800-51099800	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:51097800-51100400	Weak transcription	Fetal Stomach	stomach
43	chr13:51097800-51100600	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:51097800-51101400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr13:51097800-51101600	Weak transcription	Fetal Kidney	kidney
46	chr13:51098000-51100000	Weak transcription	Fetal Heart	heart
47	chr13:51098000-51100200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:51098000-51100400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:51098000-51101000	Weak transcription	Adipose Nuclei	Adipose
50	chr13:51098200-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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