Variant report

Variant	rs1200642
Chromosome Location	chr11:104653643-104653644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1120720	0.87[AFR][1000 genomes]
rs1147011	0.94[AFR][1000 genomes]
rs1147013	0.94[AFR][1000 genomes]
rs1147016	0.94[AFR][1000 genomes]
rs1147021	0.94[AFR][1000 genomes]
rs1147026	0.87[AFR][1000 genomes]
rs1147048	0.94[AFR][1000 genomes]
rs1200654	0.87[AFR][1000 genomes]
rs1200655	1.00[AFR][1000 genomes]
rs2845896	1.00[AFR][1000 genomes]
rs2845899	1.00[AFR][1000 genomes]
rs2845906	1.00[AFR][1000 genomes]
rs2845907	1.00[AFR][1000 genomes]
rs2849199	0.94[AFR][1000 genomes]
rs58022066	0.87[AFR][1000 genomes]
rs890449	0.83[AFR][1000 genomes]
rs890450	0.94[AFR][1000 genomes]
rs991272	1.00[AFR][1000 genomes]

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	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr11:104651200-104654400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr11:104651200-104654800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:104651200-104654800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:104651200-104656200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:104651600-104654000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:104651800-104654200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:104652200-104654000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:104652400-104654200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:104652400-104654200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:104652600-104654200	Enhancers	HMEC	breast
11	chr11:104653200-104653800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:104653200-104653800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:104653200-104654200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:104653200-104654200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:104653400-104653800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:104653400-104653800	Flanking Active TSS	NHEK	skin
17	chr11:104653400-104654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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