Variant report

Variant	rs9735063
Chromosome Location	chr11:65764538-65764539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65758864..65760871-chr11:65762649..65765214,2	MCF-7	breast:
2	chr11:65756651..65758382-chr11:65762755..65764832,2	MCF-7	breast:
3	chr11:65749395..65751656-chr11:65763529..65766422,3	K562	blood:
4	chr11:65756379..65757093-chr11:65764476..65765013,2	K562	blood:
5	chr11:65764048..65767930-chr11:65768133..65771443,5	MCF-7	breast:
6	chr11:65759662..65761884-chr11:65763291..65764975,2	MCF-7	breast:
7	chr11:65762506..65765263-chr11:67235744..67237366,2	MCF-7	breast:
8	chr11:65755347..65758083-chr11:65763733..65766415,2	K562	blood:
9	chr11:65743310..65746046-chr11:65763797..65766517,3	MCF-7	breast:
10	chr11:65755935..65759042-chr11:65762460..65765703,3	MCF-7	breast:
11	chr11:65762816..65765321-chr11:65799547..65802531,2	MCF-7	breast:
12	chr11:65748017..65751656-chr11:65762573..65766422,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175467	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047464	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791835	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791837	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896070	0.82[ASN][1000 genomes]
rs10896073	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896074	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227370	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12363614	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276132	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3759035	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55947178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60109456	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6591195	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7113428	0.82[EUR][1000 genomes]
rs7128076	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs735942	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs747526	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754532	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7934543	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7939253	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7939390	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952056	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[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	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
3	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
4	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
5	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
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	nsv819658	chr11:65757756-65764902	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9735063	BANF1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
2	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
3	chr11:65741200-65765000	Weak transcription	NHDF-Ad	bronchial
4	chr11:65743800-65764800	Weak transcription	HSMM	muscle
5	chr11:65745200-65764800	Weak transcription	K562	blood
6	chr11:65745400-65764800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:65745400-65765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:65745800-65764800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:65746000-65764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:65746800-65765000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:65747000-65764600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:65747000-65764600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:65747000-65764600	Weak transcription	Ovary	ovary
14	chr11:65747000-65764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:65747200-65764600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:65747200-65764600	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:65747200-65764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:65747200-65764800	Weak transcription	Pancreas	Pancrea
19	chr11:65747200-65764800	Weak transcription	Small Intestine	intestine
20	chr11:65747400-65764800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:65747400-65764800	Weak transcription	Fetal Lung	lung
22	chr11:65747400-65765200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:65747600-65764600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:65747600-65764800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:65747600-65765000	Weak transcription	Colonic Mucosa	Colon
26	chr11:65747800-65764600	Weak transcription	Osteobl	bone
27	chr11:65747800-65764800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:65747800-65764800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:65747800-65764800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:65748000-65764600	Weak transcription	Fetal Intestine Large	intestine
31	chr11:65748000-65764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:65748000-65764800	Weak transcription	Esophagus	oesophagus
33	chr11:65749600-65764600	Weak transcription	Fetal Brain Female	brain
34	chr11:65751000-65764800	Weak transcription	NHLF	lung
35	chr11:65751600-65764600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:65755200-65766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:65756800-65764600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:65756800-65764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:65756800-65764800	Weak transcription	Fetal Kidney	kidney
40	chr11:65756800-65765000	Weak transcription	GM12878-XiMat	blood
41	chr11:65757000-65764600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:65757000-65764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:65757000-65764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:65757000-65764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:65757000-65764600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:65757000-65764600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:65757000-65764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:65757000-65764600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:65757000-65764800	Weak transcription	Brain Angular Gyrus	brain
50	chr11:65757000-65764800	Weak transcription	Dnd41	blood

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