Variant report

Variant	rs11227368
Chromosome Location	chr11:65740370-65740371
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	chr11:65734343..65736232-chr11:65738281..65740825,2	MCF-7	breast:
2	chr11:65739309..65741332-chr11:65747619..65750098,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1151505	0.84[AMR][1000 genomes]
rs1151512	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1192168	0.85[AMR][1000 genomes]
rs1204649	0.81[EUR][1000 genomes]
rs12792888	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12794370	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12797319	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs14157	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1786175	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3016868	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35049625	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs470192	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs491973	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493899	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501353	0.84[AMR][1000 genomes]
rs503524	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs528736	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs538954	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs542332	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550435	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551659	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs552130	0.84[AMR][1000 genomes]
rs556643	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs559078	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55928757	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55994535	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56154109	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56239996	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566590	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs593525	0.85[AMR][1000 genomes]
rs606978	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs613924	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs632578	0.80[AMR][1000 genomes]
rs642293	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs649000	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655744	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs659982	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs660118	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs679581	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7105628	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
3	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227368	BANF1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65729800-65746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
3	chr11:65730800-65741600	Weak transcription	Fetal Heart	heart
4	chr11:65731000-65744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
9	chr11:65731400-65741600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
12	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
13	chr11:65731600-65740800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:65731600-65741400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:65731600-65741400	Strong transcription	Left Ventricle	heart
16	chr11:65731600-65741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:65731600-65741600	Strong transcription	Liver	Liver
18	chr11:65731600-65742400	Strong transcription	Primary T cells from cord blood	blood
19	chr11:65731600-65747400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:65731600-65747800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:65731800-65740800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:65731800-65741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:65731800-65741600	Strong transcription	Brain Germinal Matrix	brain
24	chr11:65731800-65749000	Strong transcription	Fetal Stomach	stomach
25	chr11:65732000-65741600	Strong transcription	Brain Cingulate Gyrus	brain
26	chr11:65732000-65742200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:65732000-65747200	Strong transcription	Lung	lung
28	chr11:65732200-65741600	Strong transcription	Dnd41	blood
29	chr11:65732400-65740800	Weak transcription	NHDF-Ad	bronchial
30	chr11:65732400-65741400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:65732400-65748800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:65732800-65741200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:65732800-65748200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:65734800-65740600	Weak transcription	HMEC	breast
35	chr11:65735200-65750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:65735800-65741400	Strong transcription	GM12878-XiMat	blood
37	chr11:65735800-65756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:65736200-65740600	Weak transcription	HSMM	muscle
39	chr11:65736200-65744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:65736400-65743200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
42	chr11:65736600-65740800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:65736800-65743400	Weak transcription	K562	blood
44	chr11:65736800-65744400	Weak transcription	HepG2	liver
45	chr11:65736800-65745000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:65736800-65747800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:65737000-65748000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:65737200-65743200	Weak transcription	Aorta	Aorta
49	chr11:65737200-65744000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:65737200-65747800	Strong transcription	Placenta	Placenta

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