Variant report

Variant	rs1002249
Chromosome Location	chr6:55891082-55891083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1002250	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1005783	0.83[EUR][1000 genomes]
rs10456725	0.83[EUR][1000 genomes]
rs10948960	0.83[ASN][1000 genomes]
rs10948961	0.83[ASN][1000 genomes]
rs10948964	0.86[EUR][1000 genomes]
rs10948965	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948966	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948967	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10948968	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190342	0.83[ASN][1000 genomes]
rs12198766	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12204670	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12204682	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12205967	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12208353	0.83[ASN][1000 genomes]
rs12209568	0.83[ASN][1000 genomes]
rs12212033	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12215085	0.83[ASN][1000 genomes]
rs12216413	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16869623	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2143518	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3950156	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62406073	0.83[ASN][1000 genomes]
rs62406117	0.81[EUR][1000 genomes]
rs62406121	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62406123	0.81[EUR][1000 genomes]
rs714069	0.83[ASN][1000 genomes]
rs7739760	0.81[EUR][1000 genomes]
rs7755390	0.81[EUR][1000 genomes]
rs7758138	0.83[ASN][1000 genomes]
rs9296819	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296820	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9296821	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9370478	0.81[EUR][1000 genomes]
rs9464315	0.83[ASN][1000 genomes]
rs9464327	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9464334	0.81[EUR][1000 genomes]
rs9475497	0.83[ASN][1000 genomes]
rs9475498	0.83[ASN][1000 genomes]
rs9475510	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475512	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475513	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475514	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475515	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475516	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475517	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9475519	0.83[ASN][1000 genomes]
rs9475530	0.83[EUR][1000 genomes]
rs9475550	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs980917	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv830665	chr6:55755560-55920219	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv526703	chr6:55810482-56023811	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv3498415	chr6:55830704-55911231	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3498412	chr6:55830968-55909153	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3498414	chr6:55831055-55909122	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2584235	chr6:55831055-55910117	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3498413	chr6:55831100-55909183	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3498416	chr6:55831124-55909074	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1031430	chr6:55834480-55906937	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv526771	chr6:55846527-55894135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023687	chr6:55868611-55940255	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv1020208	chr6:55870429-55932120	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv538227	chr6:55870429-55932120	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55889400-55891200	Flanking Active TSS	HUVEC	blood vessel
2	chr6:55890000-55891600	Weak transcription	Ovary	ovary
3	chr6:55890000-55891600	Weak transcription	Hela-S3	cervix
4	chr6:55890000-55892200	Enhancers	Osteobl	bone
5	chr6:55890000-55897600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:55890200-55891400	Weak transcription	Aorta	Aorta
7	chr6:55890200-55891600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:55890200-55891800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:55890400-55891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:55890400-55892000	Enhancers	Fetal Lung	lung
11	chr6:55891000-55891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:55891000-55891800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:55891000-55891800	Enhancers	Fetal Stomach	stomach
14	chr6:55891000-55891800	Enhancers	Placenta Amnion	Placenta Amnion

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