Variant report

Variant	rs977746
Chromosome Location	chr6:15677343-15677344
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15676527..15678703-chr6:16128031..16129735,2	MCF-7	breast:
2	chr6:15672759..15682190-chr6:16128127..16132961,11	K562	blood:
3	chr6:15676701..15679445-chr6:16128067..16130744,3	K562	blood:
4	chr6:15672874..15675125-chr6:15675945..15678266,2	K562	blood:
5	chr6:15676839..15679833-chr6:16153654..16155926,2	K562	blood:

Variant related genes	Relation type
ENSG00000007944	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11963843	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13192922	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13199598	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13206289	0.95[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs13206437	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs13207538	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13213868	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13213990	0.87[EUR][1000 genomes]
rs17407828	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17408240	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17473363	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17473553	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17473769	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17473810	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17473838	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17473930	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17475195	0.85[MEX][hapmap]
rs34297195	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34303993	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34401957	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34872116	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35510319	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35513974	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55799119	0.80[AMR][1000 genomes]
rs57292248	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61568456	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67330366	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67370907	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6906528	0.95[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6917701	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6921842	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6922764	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6922963	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6937887	0.95[CEU][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6941398	0.95[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71554534	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71554536	0.80[EUR][1000 genomes]
rs7741874	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7759904	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7763446	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7763614	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428136	chr6:15595640-15781241	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2755670	chr6:15624762-15736008	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2607475	chr6:15664805-15717086	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2757157	chr6:15668867-15725478	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759408	chr6:15668867-15725478	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3692888	chr6:15675641-15694811	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs977746	DEK	cis	parietal	SCAN
rs977746	KCNQ1DN	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15673200-15677400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:15675800-15678200	Weak transcription	K562	blood
3	chr6:15675800-15678600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:15675800-15685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:15675800-15685000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:15676400-15678600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:15676600-15678600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:15676600-15678800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:15676600-15678800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:15676600-15680400	Weak transcription	Psoas Muscle	Psoas
11	chr6:15676600-15682000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:15676600-15683200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:15676800-15682000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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