Variant report

Variant	rs16883692
Chromosome Location	chr6:74124582-74124583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74121986..74124978-chr6:74160320..74162197,2	MCF-7	breast:
2	chr6:74122459..74125272-chr6:74125435..74127314,2	K562	blood:
3	chr6:74123752..74126694-chr6:74128372..74130014,2	K562	blood:
4	chr6:74123005..74125594-chr6:74132092..74134243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164430	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11961187	0.85[AMR][1000 genomes]
rs11964808	0.94[AMR][1000 genomes]
rs12662148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12663695	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes]
rs12665048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2280286	0.81[AMR][1000 genomes]
rs3734512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3734516	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3757107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs723402	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73754627	1.00[EUR][1000 genomes]
rs930806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs930807	0.96[AMR][1000 genomes]
rs930808	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv518515	chr6:74122155-74126084	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16883692	DDX43	cis	multi-tissue	Pritchard

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74115000-74131000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:74115800-74131200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:74117800-74131800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:74118600-74125600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:74119200-74149000	Weak transcription	Fetal Intestine Large	intestine
6	chr6:74120400-74126000	Weak transcription	Placenta	Placenta
7	chr6:74120600-74131200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:74121800-74125200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:74121800-74127800	Weak transcription	K562	blood
10	chr6:74122200-74131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:74122400-74131200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:74122800-74131400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:74123000-74124600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:74123000-74130200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:74124000-74128200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:74124000-74130000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:74124000-74131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:74124200-74126400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:74124400-74131400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:74124400-74139800	Weak transcription	NHDF-Ad	bronchial

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