Variant report

Variant	rs763815
Chromosome Location	chr6:53827100-53827101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10456168	0.85[ASN][1000 genomes]
rs10456676	0.86[ASN][1000 genomes]
rs10948787	0.97[EUR][1000 genomes]
rs11751301	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663216	0.90[CEU][hapmap]
rs13437448	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076496	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2076497	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3003492	0.86[CEU][hapmap]
rs3003498	0.90[CEU][hapmap];0.86[TSI][hapmap]
rs34299171	0.91[ASN][1000 genomes]
rs4486000	0.90[CEU][hapmap];0.86[TSI][hapmap]
rs4712050	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4712051	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5006063	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61068246	0.94[EUR][1000 genomes]
rs62396285	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6905563	0.89[CEU][hapmap]
rs6909052	0.85[ASN][1000 genomes]
rs6909056	0.86[ASN][1000 genomes]
rs6909350	0.86[ASN][1000 genomes]
rs6927232	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6935942	0.91[ASN][1000 genomes]
rs763813	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750173	0.82[EUR][1000 genomes]
rs9296727	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9395891	0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9474687	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs763815	BAG2	cis	cerebellum	SCAN
rs763815	C6orf142	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53824800-53827800	Enhancers	HSMM	muscle
2	chr6:53825200-53827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:53825400-53827600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:53825800-53827200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:53826200-53828400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:53826400-53827400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:53826400-53827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:53826400-53827400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:53826400-53827800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:53826600-53827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:53826600-53827400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:53826600-53827400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:53826600-53827400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:53826600-53827400	Enhancers	HMEC	breast
15	chr6:53826600-53827800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:53826600-53827800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:53826600-53827800	Enhancers	Placenta	Placenta
18	chr6:53826600-53828200	Enhancers	Fetal Heart	heart
19	chr6:53826800-53828200	Enhancers	Fetal Muscle Leg	muscle
20	chr6:53827000-53827200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:53827000-53827400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:53827000-53827400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:53827000-53827400	Flanking Active TSS	HSMMtube	muscle
24	chr6:53827000-53827800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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