Variant report

Variant	rs17711047
Chromosome Location	chr3:115546472-115546473
allele	A/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:16)

rs_ID	r²[population]
rs17696601	1.00[CHB][hapmap]
rs4378954	1.00[CHB][hapmap]
rs59087536	0.97[EUR][1000 genomes]
rs6438291	1.00[CHB][hapmap]
rs6438292	1.00[CHB][hapmap]
rs6438293	1.00[CHB][hapmap]
rs6438294	1.00[CHB][hapmap]
rs6768890	1.00[CHB][hapmap]
rs6769601	1.00[CHB][hapmap]
rs6790335	1.00[CHB][hapmap]
rs73858079	0.87[EUR][1000 genomes]
rs73858080	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73858088	1.00[ASN][1000 genomes]
rs7628605	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs9827641	1.00[CHB][hapmap]
rs9829970	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv997598	chr3:115238131-115643421	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv877358	chr3:115396581-115551931	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv877359	chr3:115397785-115551931	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115526600-115573200	Weak transcription	Brain Angular Gyrus	brain
2	chr3:115529600-115547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:115544000-115549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:115544400-115547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:115544400-115549800	Weak transcription	HepG2	liver
6	chr3:115544400-115552000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:115544400-115567400	Weak transcription	Hela-S3	cervix
8	chr3:115544600-115549600	Weak transcription	NH-A	brain
9	chr3:115544600-115550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:115545400-115548200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:115546000-115548400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:115546200-115546600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:115546200-115549600	Enhancers	NHEK	skin
14	chr3:115546400-115546800	Enhancers	HMEC	breast
15	chr3:115546400-115547600	Enhancers	Fetal Heart	heart
16	chr3:115546400-115549800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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