Variant report

Variant	rs9596257
Chromosome Location	chr13:50775950-50775951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50775777..50777367-chr13:50778145..50779835,2	K562	blood:
2	chr13:50770244..50772691-chr13:50774559..50776373,2	MCF-7	breast:
3	chr13:50770499..50772684-chr13:50775885..50778418,2	K562	blood:
4	chr13:50774498..50776286-chr13:51483757..51485830,2	K562	blood:
5	chr13:50769446..50774611-chr13:50774663..50778768,6	K562	blood:

Variant related genes	Relation type
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7984417	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995192	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
8	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50761200-50776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:50767000-50782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:50767000-50783000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50767200-50777400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:50767600-50782800	Weak transcription	Gastric	stomach
7	chr13:50767800-50782800	Weak transcription	Colonic Mucosa	Colon
8	chr13:50770800-50783000	Weak transcription	Spleen	Spleen
9	chr13:50773000-50782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:50773000-50782400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:50773200-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:50773800-50777400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr13:50774400-50776600	Weak transcription	HepG2	liver
14	chr13:50774600-50777000	Enhancers	Right Atrium	heart
15	chr13:50774800-50782400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:50775000-50776400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:50775000-50782800	Weak transcription	Ovary	ovary
18	chr13:50775200-50776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:50775200-50782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:50775400-50776000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:50775400-50777000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:50775600-50776600	Weak transcription	Fetal Stomach	stomach
23	chr13:50775600-50777200	Enhancers	K562	blood
24	chr13:50775600-50782200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50775600-50786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:50775800-50776800	Enhancers	Fetal Heart	heart
27	chr13:50775800-50777400	Weak transcription	Fetal Lung	lung
28	chr13:50775800-50782400	Weak transcription	Right Ventricle	heart

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