Variant report

Variant	rs2049286
Chromosome Location	chr13:50775500-50775501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50695987..50698741-chr13:50773838..50775840,2	K562	blood:
2	chr13:50770244..50772691-chr13:50774559..50776373,2	MCF-7	breast:
3	chr13:50774498..50776286-chr13:51483757..51485830,2	K562	blood:
4	chr13:50769446..50774611-chr13:50774663..50778768,6	K562	blood:

Variant related genes	Relation type
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1007852	0.84[JPT][hapmap]
rs1965800	0.84[JPT][hapmap]
rs2066629	1.00[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2066632	0.84[JPT][hapmap]
rs2066639	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2066640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066654	0.94[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2580187	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2580188	0.82[JPT][hapmap]
rs2703082	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740516	0.84[JPT][hapmap]
rs2740517	0.85[GIH][hapmap]
rs2740521	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740522	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740523	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2765763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765767	0.81[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2049286	ATP7B	cis	cerebellum	SCAN

Chromatin state (count:32 , 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	chr13:50774000-50775600	Enhancers	Fetal Stomach	stomach
14	chr13:50774200-50775800	Enhancers	Fetal Kidney	kidney
15	chr13:50774400-50775600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:50774400-50775600	Enhancers	Fetal Muscle Trunk	muscle
17	chr13:50774400-50775800	Enhancers	Fetal Lung	lung
18	chr13:50774400-50776600	Weak transcription	HepG2	liver
19	chr13:50774600-50775600	Enhancers	Left Ventricle	heart
20	chr13:50774600-50775600	Flanking Active TSS	K562	blood
21	chr13:50774600-50775800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:50774600-50775800	Enhancers	Right Ventricle	heart
23	chr13:50774600-50777000	Enhancers	Right Atrium	heart
24	chr13:50774800-50782400	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:50775000-50776400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:50775000-50782800	Weak transcription	Ovary	ovary
27	chr13:50775200-50776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:50775200-50782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:50775400-50775600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr13:50775400-50775800	Flanking Active TSS	Fetal Heart	heart
31	chr13:50775400-50776000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:50775400-50777000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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