Variant report

Variant	rs7926943
Chromosome Location	chr11:59041725-59041726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59032632..59035314-chr11:59038415..59042026,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10750912	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792231	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229912	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229914	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11501602	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945588	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1945589	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040326	0.82[JPT][hapmap]
rs7105556	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs7111928	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121582	0.82[JPT][hapmap]
rs7945064	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951053	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7926943	FEN1	cis	parietal	SCAN
rs7926943	SERPING1	cis	cerebellum	SCAN
rs7926943	OR4C11	cis	parietal	SCAN
rs7926943	DDB1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59037000-59044600	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:59037400-59043400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:59038200-59043000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:59038600-59042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:59039000-59041800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:59039600-59041800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr11:59039600-59041800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:59039600-59042000	Enhancers	Primary T cells from cord blood	blood
9	chr11:59039600-59042000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:59039600-59042200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:59039800-59041800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:59039800-59042000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:59039800-59042800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:59040000-59041800	Enhancers	Stomach Mucosa	stomach
15	chr11:59040000-59042200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:59040200-59041800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:59040200-59042000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:59040200-59042000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:59040200-59042200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:59040400-59041800	Enhancers	Small Intestine	intestine
21	chr11:59040400-59042000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:59040400-59042600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:59041000-59042000	Weak transcription	Colonic Mucosa	Colon
24	chr11:59041000-59043200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:59041000-59043800	Enhancers	Primary B cells from cord blood	blood
26	chr11:59041200-59043000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:59041400-59042200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:59041400-59042800	Enhancers	GM12878-XiMat	blood
29	chr11:59041600-59042400	Weak transcription	Rectal Mucosa Donor 29	rectum

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