Variant report

Variant	rs6929778
Chromosome Location	chr6:53874521-53874522
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1022929	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1022930	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1022931	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10484651	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10484652	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10484653	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948794	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10948795	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1156379	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1156380	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs11961988	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12194304	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12195852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12199925	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12201302	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12524379	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12529752	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1325821	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1409101	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1570911	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1570912	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16884583	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2397153	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4712052	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4715435	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62397360	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6914051	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs927795	0.81[EUR][1000 genomes]
rs9349691	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9349692	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9357783	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9370254	0.90[ASN][1000 genomes]
rs9370255	0.86[ASN][1000 genomes]
rs9370256	0.86[ASN][1000 genomes]
rs9382274	0.94[ASN][1000 genomes]
rs9395900	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53864400-53875000	Weak transcription	Left Ventricle	heart
2	chr6:53868600-53875800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:53873400-53875000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:53873400-53876400	Enhancers	Fetal Intestine Large	intestine
5	chr6:53873400-53876400	Enhancers	Fetal Intestine Small	intestine
6	chr6:53873600-53875800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:53873600-53876000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:53873800-53874600	Enhancers	Brain Hippocampus Middle	brain
9	chr6:53873800-53875600	Enhancers	Fetal Heart	heart
10	chr6:53873800-53875800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:53874000-53874600	Enhancers	Fetal Brain Male	brain
12	chr6:53874000-53874800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:53874000-53874800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:53874200-53875800	Enhancers	Liver	Liver
15	chr6:53874200-53875800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:53874200-53876400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:53874400-53874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:53874400-53874800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:53874400-53875600	Enhancers	Psoas Muscle	Psoas
20	chr6:53874400-53875800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:53874400-53875800	Enhancers	HSMM	muscle
22	chr6:53874400-53876600	Enhancers	HepG2	liver

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