Variant report

Variant	rs4518083
Chromosome Location	chr3:139968072-139968073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139966856..139969522-chr3:139972247..139974202,2	K562	blood:
2	chr3:139963954..139966066-chr3:139966638..139968351,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11717409	0.82[ASN][1000 genomes]
rs11717522	1.00[JPT][hapmap]
rs11917245	1.00[JPT][hapmap]
rs11918688	1.00[EUR][1000 genomes]
rs11924457	1.00[EUR][1000 genomes]
rs11927090	1.00[EUR][1000 genomes]
rs13319247	1.00[JPT][hapmap]
rs1383020	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1479866	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1564395	1.00[JPT][hapmap]
rs1564397	1.00[JPT][hapmap]
rs16850133	1.00[EUR][1000 genomes]
rs2061927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2061928	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2061929	1.00[JPT][hapmap]
rs2086330	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs34648747	1.00[EUR][1000 genomes]
rs3943277	1.00[JPT][hapmap]
rs4076964	1.00[JPT][hapmap]
rs4142786	1.00[EUR][1000 genomes]
rs4234485	1.00[EUR][1000 genomes]
rs4263252	1.00[EUR][1000 genomes]
rs4266155	0.94[ASN][1000 genomes]
rs4362682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4365587	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4371479	1.00[JPT][hapmap]
rs4438621	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4502547	0.94[ASN][1000 genomes]
rs4583599	1.00[JPT][hapmap]
rs4683484	1.00[JPT][hapmap]
rs4683488	1.00[JPT][hapmap]
rs56834107	1.00[EUR][1000 genomes]
rs57193140	1.00[EUR][1000 genomes]
rs57563861	1.00[EUR][1000 genomes]
rs57865055	1.00[EUR][1000 genomes]
rs58140595	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59385932	1.00[EUR][1000 genomes]
rs61015005	1.00[EUR][1000 genomes]
rs6439912	1.00[CHB][hapmap]
rs6439914	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6765087	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6773144	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6782976	1.00[CHB][hapmap]
rs72990191	1.00[EUR][1000 genomes]
rs72990200	1.00[EUR][1000 genomes]
rs73867103	1.00[EUR][1000 genomes]
rs73867105	1.00[EUR][1000 genomes]
rs73867110	1.00[EUR][1000 genomes]
rs73870712	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73870714	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73870715	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7431715	1.00[JPT][hapmap]
rs7610342	0.86[EUR][1000 genomes]
rs7626588	1.00[EUR][1000 genomes]
rs7638929	1.00[EUR][1000 genomes]
rs9811609	1.00[JPT][hapmap]
rs9817769	1.00[JPT][hapmap]
rs995578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139962000-139970600	Weak transcription	Ovary	ovary
2	chr3:139963200-139969800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:139963400-139968600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:139964000-139971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:139964400-139968600	Weak transcription	Adipose Nuclei	Adipose
6	chr3:139964800-139968600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:139964800-139970400	Weak transcription	HSMM	muscle
8	chr3:139965200-139970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:139965800-139968600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:139965800-139969000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:139965800-139969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:139966000-139969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:139966000-139970400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:139966000-139970800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:139966200-139970400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:139966400-139969200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:139967000-139969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:139967200-139968600	Enhancers	Brain Anterior Caudate	brain
19	chr3:139967400-139968200	Weak transcription	HSMMtube	muscle
20	chr3:139967400-139968400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:139967400-139971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:139967600-139970400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:139968000-139969600	Enhancers	Right Atrium	heart
24	chr3:139968000-139971800	Enhancers	Fetal Muscle Leg	muscle

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