Variant report

Variant	rs212003
Chromosome Location	chr3:60048237-60048238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs172454	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs182418	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs211999	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212004	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212059	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs212065	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs212066	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2736760	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2736761	0.84[ASN][1000 genomes]
rs2736762	0.84[ASN][1000 genomes]
rs2736819	0.85[ASN][1000 genomes]
rs3845972	0.82[JPT][hapmap]
rs4083381	0.85[CHB][hapmap]
rs6801817	0.87[JPT][hapmap]
rs722070	0.82[JPT][hapmap]
rs73092171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9311746	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60041000-60049000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:60042000-60051600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:60042800-60050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:60043000-60051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:60044800-60050200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:60045000-60054200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:60045600-60050200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:60045800-60052400	Enhancers	Primary T cells from cord blood	blood
9	chr3:60046800-60051800	Enhancers	Thymus	Thymus
10	chr3:60047200-60048800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:60047400-60048800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr3:60047400-60052200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:60047600-60048600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:60048000-60049400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr3:60048200-60048600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:60048200-60048800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr3:60048200-60049400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:60048200-60049400	Enhancers	Fetal Thymus	thymus
19	chr3:60048200-60054000	Enhancers	Dnd41	blood

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

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