Variant report

Variant	rs1008944
Chromosome Location	chr6:106585602-106585603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106582685..106586548-chr6:106586639..106589895,5	K562	blood:
2	chr6:106566135..106570137-chr6:106580831..106586138,5	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1008945	0.97[ASN][1000 genomes]
rs11152967	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17625558	0.93[ASN][1000 genomes]
rs1885449	0.85[ASN][1000 genomes]
rs2009071	0.97[ASN][1000 genomes]
rs4945742	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945743	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6901662	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373835	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised 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	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106581400-106589400	Weak transcription	Psoas Muscle	Psoas
2	chr6:106583200-106593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:106583600-106586200	Weak transcription	Placenta	Placenta
4	chr6:106583600-106589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:106583600-106589200	Weak transcription	NH-A	brain
6	chr6:106583800-106587800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:106583800-106590600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:106584200-106588000	Weak transcription	NHDF-Ad	bronchial
9	chr6:106584200-106589200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:106584200-106589200	Weak transcription	HSMMtube	muscle
11	chr6:106584400-106586400	Weak transcription	Hela-S3	cervix
12	chr6:106584400-106589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:106584400-106589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:106584400-106589200	Weak transcription	K562	blood
15	chr6:106584400-106590200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:106584400-106593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:106585600-106585800	Enhancers	Fetal Intestine Small	intestine
18	chr6:106585600-106585800	Enhancers	Right Ventricle	heart
19	chr6:106585600-106586000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:106585600-106586400	Enhancers	Esophagus	oesophagus
21	chr6:106585600-106586800	Enhancers	GM12878-XiMat	blood

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