Variant report

Variant	rs17310619
Chromosome Location	chr11:74182948-74182949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11826685	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1280087	1.00[YRI][hapmap]
rs1280089	1.00[YRI][hapmap]
rs1280350	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs17310612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17524	0.83[CHB][hapmap]
rs17532	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs3867279	0.83[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.80[EUR][1000 genomes]
rs3867280	0.83[CHB][hapmap]
rs3867281	0.99[ASN][1000 genomes]
rs4944894	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682229	0.84[JPT][hapmap]
rs686179	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.81[ASN][1000 genomes]
rs686622	0.81[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7115943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131421	0.80[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17310619	MGC12965	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74179000-74185400	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:74179200-74183200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:74179400-74183000	Weak transcription	K562	blood
4	chr11:74179800-74183000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:74179800-74183200	Weak transcription	HUVEC	blood vessel
6	chr11:74180200-74183000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:74180200-74185600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:74180400-74185000	Weak transcription	Right Ventricle	heart
9	chr11:74181800-74185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74182200-74186000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:74182800-74183600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr11:74182800-74183600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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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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