Variant report

Variant	rs74149085
Chromosome Location	chr1:239675501-239675502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10925903	0.96[ASN][1000 genomes]
rs10925906	0.96[ASN][1000 genomes]
rs11807305	0.96[ASN][1000 genomes]
rs12058126	0.96[ASN][1000 genomes]
rs12088138	0.96[ASN][1000 genomes]
rs12097468	0.92[ASN][1000 genomes]
rs12240097	0.96[ASN][1000 genomes]
rs16838358	0.88[ASN][1000 genomes]
rs16838359	0.88[ASN][1000 genomes]
rs16838363	0.88[ASN][1000 genomes]
rs20438	0.96[ASN][1000 genomes]
rs2354395	0.88[ASN][1000 genomes]
rs58291256	0.88[ASN][1000 genomes]
rs58463672	0.88[ASN][1000 genomes]
rs58716948	0.88[ASN][1000 genomes]
rs60374536	0.88[ASN][1000 genomes]
rs61595023	0.88[ASN][1000 genomes]
rs61834689	0.88[ASN][1000 genomes]
rs61834709	0.88[ASN][1000 genomes]
rs61834710	0.88[ASN][1000 genomes]
rs61834712	0.88[ASN][1000 genomes]
rs61834716	0.88[ASN][1000 genomes]
rs61834717	0.88[ASN][1000 genomes]
rs61834718	0.88[ASN][1000 genomes]
rs61834720	0.88[ASN][1000 genomes]
rs61834721	0.88[ASN][1000 genomes]
rs61834722	0.88[ASN][1000 genomes]
rs61834723	0.81[ASN][1000 genomes]
rs6661441	0.88[ASN][1000 genomes]
rs6666589	0.88[ASN][1000 genomes]
rs6669508	0.85[ASN][1000 genomes]
rs6675823	0.96[ASN][1000 genomes]
rs6681143	0.88[ASN][1000 genomes]
rs6693126	0.88[ASN][1000 genomes]
rs7513717	0.88[ASN][1000 genomes]
rs7517458	0.88[ASN][1000 genomes]
rs7519143	0.88[ASN][1000 genomes]
rs7549234	0.96[ASN][1000 genomes]
rs7551209	0.88[ASN][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	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833037	chr1:239522168-239699412	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer 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	4 gene(s)	inside rSNPs	diseases
5	nsv549436	chr1:239632055-239678115	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv549437	chr1:239659953-239677004	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239670800-239675600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:239670800-239678800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:239674200-239675800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:239674400-239675600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:239675200-239675800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:239675200-239676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:239675200-239676400	Enhancers	Ovary	ovary
8	chr1:239675400-239675600	Enhancers	Pancreas	Pancrea

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