Variant report

Variant	rs1235467
Chromosome Location	chr21:41118615-41118616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10470189	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[YRI][hapmap]
rs1077589	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs1077590	1.00[CEU][hapmap]
rs1077591	0.82[CHB][hapmap]
rs1235468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1235476	0.81[CHB][hapmap]
rs1235478	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs1571711	0.91[CEU][hapmap]
rs1614870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1621232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1734858	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[YRI][hapmap]
rs1734859	1.00[CEU][hapmap];0.80[CHB][hapmap]
rs1735143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1735145	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1735151	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[YRI][hapmap]
rs2253741	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[YRI][hapmap]
rs2253748	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[YRI][hapmap]
rs2837150	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2837164	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2837165	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2837169	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs2837170	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2837171	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2837173	1.00[CEU][hapmap]
rs2837184	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs2974990	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs388152	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs396774	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs399324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs413515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs415794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs418823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs421549	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[YRI][hapmap]
rs424471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs425320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs431202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs431767	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs432683	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4816645	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[YRI][hapmap]
rs4816648	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs4816649	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4816650	0.82[CHB][hapmap]
rs4816651	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4818085	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4818086	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs6517562	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap]
rs7275687	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7278858	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7282336	1.00[CEU][hapmap]
rs7282623	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs741867	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs744568	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs9305678	1.00[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv275236	chr21:41110282-41119411	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv828877	chr21:41118265-41118835	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41104200-41138400	Weak transcription	Pancreas	Pancrea
2	chr21:41107800-41119400	Enhancers	Placenta	Placenta
3	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:41115600-41122000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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