Variant report

Variant	rs4944042
Chromosome Location	chr11:71118788-71118789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10792680	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10898091	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12789253	0.81[AMR][1000 genomes]
rs12793607	0.80[AMR][1000 genomes]
rs12806918	0.84[CEU][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs1540128	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1945491	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3763856	0.80[AMR][1000 genomes]
rs4944043	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4944044	0.84[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4944045	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4944046	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4944884	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4944885	0.85[AMR][1000 genomes]
rs4944890	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7105151	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7114296	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832202	chr11:71088949-71131368	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4944042	DHCR7	cis	cerebellum	SCAN
rs4944042	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4944042	TBX10	cis	cerebellum	SCAN
rs4944042	NADSYN1	cis	Nerve Tibial	GTEx
rs4944042	RP11-660L16.2	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71114400-71118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:71118400-71119000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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