Variant report

Variant	rs1192168
Chromosome Location	chr11:65730945-65730946
allele	G/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	chr11:65633751..65635295-chr11:65730061..65732179,2	MCF-7	breast:
2	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
3	chr11:65622776..65625670-chr11:65730187..65732603,3	MCF-7	breast:
4	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
5	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
6	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
7	chr11:65730326..65732410-chr11:65773010..65775990,2	MCF-7	breast:
8	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
9	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
10	chr11:65730464..65733957-chr11:65754974..65756864,3	K562	blood:
11	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
12	chr11:65623212..65627104-chr11:65728021..65730947,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175573	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11227368	0.85[AMR][1000 genomes]
rs1151505	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151512	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1204649	0.83[EUR][1000 genomes]
rs12361552	0.82[EUR][1000 genomes]
rs12792888	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12794370	0.89[AMR][1000 genomes]
rs12797319	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1308733	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs14157	0.85[AMR][1000 genomes]
rs1786175	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3016868	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35049625	0.81[AMR][1000 genomes]
rs470192	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs491973	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs493899	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs501353	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503524	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs528736	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs531612	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs538954	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs542332	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs550435	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs552130	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556643	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559078	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55928757	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56154109	0.85[AMR][1000 genomes]
rs566590	0.81[AMR][1000 genomes]
rs590318	0.81[EUR][1000 genomes]
rs593525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606978	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs613924	0.85[AMR][1000 genomes]
rs617791	0.86[EUR][1000 genomes]
rs61893932	0.80[EUR][1000 genomes]
rs624273	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs632578	0.81[AMR][1000 genomes]
rs642293	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs649000	0.85[AMR][1000 genomes]
rs655744	0.88[AMR][1000 genomes]
rs659982	0.83[AMR][1000 genomes]
rs660118	0.88[EUR][1000 genomes]
rs679581	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs688862	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105628	0.83[AMR][1000 genomes];0.80[EUR][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
rs1192168	BANF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65729800-65731000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:65729800-65731000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:65729800-65731000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:65729800-65731000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:65729800-65731000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:65729800-65731000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:65729800-65731000	Flanking Active TSS	Hela-S3	cervix
8	chr11:65729800-65731000	Flanking Active TSS	Osteobl	bone
9	chr11:65729800-65746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:65730000-65731000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:65730000-65731000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:65730000-65731000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:65730200-65731000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:65730200-65731200	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:65730400-65731000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:65730400-65731000	Enhancers	Fetal Kidney	kidney
17	chr11:65730400-65731000	Enhancers	Fetal Lung	lung
18	chr11:65730400-65731000	Enhancers	Fetal Thymus	thymus
19	chr11:65730400-65731000	Enhancers	Ovary	ovary
20	chr11:65730400-65731000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:65730400-65731000	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr11:65730400-65731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:65730400-65731200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65730400-65731200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:65730400-65731200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:65730400-65731200	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:65730400-65731200	Enhancers	Pancreas	Pancrea
28	chr11:65730400-65731200	Enhancers	Thymus	Thymus
29	chr11:65730400-65731200	Enhancers	Spleen	Spleen
30	chr11:65730400-65731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65730400-65731400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:65730400-65731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:65730400-65731800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:65730400-65731800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:65730400-65731800	Genic enhancers	Fetal Stomach	stomach
36	chr11:65730600-65731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:65730600-65731000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:65730600-65731000	Genic enhancers	Primary B cells from cord blood	blood
39	chr11:65730600-65731000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:65730600-65731000	Enhancers	Colonic Mucosa	Colon
41	chr11:65730600-65731000	Enhancers	Fetal Intestine Small	intestine
42	chr11:65730600-65731000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:65730600-65731000	Enhancers	Stomach Mucosa	stomach
44	chr11:65730600-65731000	Flanking Active TSS	HSMM	muscle
45	chr11:65730600-65731000	Enhancers	HUVEC	blood vessel
46	chr11:65730600-65731000	Enhancers	NHDF-Ad	bronchial
47	chr11:65730600-65731200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr11:65730600-65731200	Enhancers	Brain Substantia Nigra	brain
49	chr11:65730600-65731400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:65730600-65731400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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