Variant report

Variant	rs763814
Chromosome Location	chr6:53827200-53827201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12196155	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543356	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2223617	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2473599	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2473601	0.85[EUR][1000 genomes]
rs2494087	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494089	0.85[EUR][1000 genomes]
rs2494090	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494091	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745460	0.87[EUR][1000 genomes]
rs2820217	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820218	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2894816	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4077760	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4276504	1.00[CHB][hapmap]
rs4357137	1.00[JPT][hapmap]
rs4476827	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6903532	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905927	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs761135	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs761136	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752800	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772783	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382262	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382264	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9464005	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474672	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No data

Chromatin state (count:30 , 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
25	chr6:53827200-53827400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:53827200-53827400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:53827200-53827400	Enhancers	Osteobl	bone
28	chr6:53827200-53827800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:53827200-53827800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:53827200-53827800	Enhancers	Left Ventricle	heart

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