Variant report

Variant	rs11626917
Chromosome Location	chr14:71299262-71299263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1034769	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs12589737	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1476609	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs193449	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2023955	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2107665	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2107666	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2332455	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2332456	0.81[CHB][hapmap]
rs2332458	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs244619	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814872	0.91[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs4899367	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs4899368	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs4902852	0.91[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs4902860	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4902863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140653	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7152516	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7155910	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs8006424	0.91[GIH][hapmap];1.00[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs8007131	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8011507	0.91[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71294600-71299400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:71297600-71299400	Enhancers	GM12878-XiMat	blood
3	chr14:71298000-71299600	Enhancers	Left Ventricle	heart
4	chr14:71298600-71300000	Enhancers	Right Atrium	heart
5	chr14:71298800-71299600	Enhancers	Ovary	ovary
6	chr14:71298800-71300000	Enhancers	HSMMtube	muscle
7	chr14:71298800-71300200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:71299000-71299600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:71299000-71299800	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:71299000-71299800	Enhancers	Fetal Heart	heart
11	chr14:71299000-71300600	Enhancers	Fetal Intestine Small	intestine
12	chr14:71299200-71299600	Enhancers	Fetal Lung	lung
13	chr14:71299200-71299600	Enhancers	Right Ventricle	heart
14	chr14:71299200-71299600	Enhancers	NH-A	brain
15	chr14:71299200-71300000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:71299200-71300000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:71299200-71300800	Enhancers	Fetal Intestine Large	intestine

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