Variant report

Variant	rs61830864
Chromosome Location	chr1:220503911-220503912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10779403	0.95[ASN][1000 genomes]
rs11118517	0.95[ASN][1000 genomes]
rs11118519	0.95[ASN][1000 genomes]
rs12411005	0.81[ASN][1000 genomes]
rs1567602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007362	0.87[ASN][1000 genomes]
rs17007491	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17007517	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048481	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830865	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832262	0.92[ASN][1000 genomes]
rs6541128	0.95[ASN][1000 genomes]
rs6541130	0.95[ASN][1000 genomes]
rs72730665	0.87[ASN][1000 genomes]
rs7529864	0.81[ASN][1000 genomes]
rs7554794	0.95[ASN][1000 genomes]
rs9793772	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3355469	chr1:220501029-220505527	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv549225	chr1:220501889-220504423	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3428704	chr1:220502279-220504577	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1842996	chr1:220503037-220504423	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1796406	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1803403	chr1:220503037-220506871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1847555	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1848942	chr1:220503037-220506871	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1849545	chr1:220503037-220506871	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220500800-220509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:220501400-220508800	Weak transcription	Esophagus	oesophagus
5	chr1:220502600-220504200	Enhancers	Brain Germinal Matrix	brain
6	chr1:220502800-220504200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:220502800-220505000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:220503000-220505000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:220503200-220510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:220503400-220509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:220503600-220504000	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:220503600-220504200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:220503600-220504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:220503800-220504000	Flanking Active TSS	Osteobl	bone
15	chr1:220503800-220504200	Enhancers	Adipose Nuclei	Adipose

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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