Variant report

Variant	rs642293
Chromosome Location	chr11:65730217-65730218
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65633751..65635295-chr11:65730061..65732179,2	MCF-7	breast:
2	chr11:65430022..65431720-chr11:65728429..65730460,2	MCF-7	breast:
3	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
4	chr11:65729174..65730832-chr11:65742979..65745166,3	MCF-7	breast:
5	chr11:65728121..65730647-chr11:66035766..66038196,2	MCF-7	breast:
6	chr11:65622776..65625670-chr11:65730187..65732603,3	MCF-7	breast:
7	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
8	chr11:65727969..65730897-chr11:65818847..65821349,3	MCF-7	breast:
9	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
10	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
11	chr11:65638377..65641229-chr11:65727913..65730693,2	MCF-7	breast:
12	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
13	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
14	chr11:65563461..65568166-chr11:65728932..65730847,4	MCF-7	breast:
15	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
16	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
17	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
18	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
19	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
20	chr11:65312318..65314153-chr11:65727479..65730326,3	MCF-7	breast:
21	chr11:65623212..65627104-chr11:65728021..65730947,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172500	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11227368	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1151505	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1151512	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1192168	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1204649	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12792888	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794370	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797319	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1308733	0.86[EUR][1000 genomes]
rs14157	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1786175	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016868	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35049625	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs470192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs491973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493899	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500161	0.81[EUR][1000 genomes]
rs501353	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs503524	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528736	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs531612	0.86[EUR][1000 genomes]
rs538954	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550435	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551659	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs552130	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs556643	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559078	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55928757	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994535	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56154109	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56239996	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566590	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs574586	0.81[EUR][1000 genomes]
rs575479	0.83[EUR][1000 genomes]
rs589253	0.81[EUR][1000 genomes]
rs593525	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs606978	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs613924	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624273	0.88[EUR][1000 genomes]
rs632578	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs649000	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653236	0.83[EUR][1000 genomes]
rs655744	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659982	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs660118	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679581	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688862	0.88[EUR][1000 genomes]
rs7105628	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
rs642293	BANF1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65728200-65730400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:65728200-65730600	Active TSS	HSMM	muscle
3	chr11:65728600-65730400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:65728600-65730600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:65729600-65730400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:65729600-65730400	Flanking Active TSS	Fetal Thymus	thymus
7	chr11:65729600-65730400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:65729600-65730600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:65729600-65730800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr11:65729600-65730800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:65729600-65730800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:65729600-65730800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:65729600-65730800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:65729800-65730400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:65729800-65730400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:65729800-65730400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:65729800-65730400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:65729800-65730400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:65729800-65730400	Flanking Active TSS	Fetal Kidney	kidney
23	chr11:65729800-65730400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:65729800-65730400	Flanking Active TSS	Fetal Lung	lung
25	chr11:65729800-65730400	Flanking Active TSS	Placenta	Placenta
26	chr11:65729800-65730400	Flanking Active TSS	Fetal Stomach	stomach
27	chr11:65729800-65730400	Flanking Active TSS	Thymus	Thymus
28	chr11:65729800-65730400	Flanking Active TSS	Dnd41	blood
29	chr11:65729800-65730600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:65729800-65730600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:65729800-65730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:65729800-65730600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:65729800-65730600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:65729800-65730600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:65729800-65730600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr11:65729800-65730600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr11:65729800-65730600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr11:65729800-65730600	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr11:65729800-65730600	Flanking Active TSS	Fetal Heart	heart
40	chr11:65729800-65730600	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr11:65729800-65730600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:65729800-65730600	Flanking Active TSS	HMEC	breast
43	chr11:65729800-65730600	Flanking Active TSS	HUVEC	blood vessel
44	chr11:65729800-65730600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:65729800-65730800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:65729800-65730800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:65729800-65730800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:65729800-65730800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:65729800-65730800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:65729800-65730800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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