Variant report

Variant	rs550435
Chromosome Location	chr11:65732651-65732652
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65626418..65628675-chr11:65731898..65733940,2	MCF-7	breast:
2	chr11:65683646..65686551-chr11:65732137..65734597,3	MCF-7	breast:
3	chr11:65732162..65734197-chr11:65837223..65838937,2	MCF-7	breast:
4	chr11:65624963..65626881-chr11:65731454..65732965,2	MCF-7	breast:
5	chr11:65732075..65734907-chr11:65742309..65744633,2	MCF-7	breast:
6	chr11:65731388..65733640-chr11:65769623..65772068,3	MCF-7	breast:
7	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
8	chr11:65730464..65733957-chr11:65754974..65756864,3	K562	blood:
9	chr11:65732451..65734730-chr11:66055981..66057951,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175376	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172500	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11227368	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1151505	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1151512	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1192168	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1204649	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12792888	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794370	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1308733	0.88[EUR][1000 genomes]
rs14157	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1786175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016868	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35049625	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs470192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs491973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493899	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500161	0.82[EUR][1000 genomes]
rs501353	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs503524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528736	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs531612	0.84[EUR][1000 genomes]
rs538954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551659	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs552130	0.85[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs556643	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs559078	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55928757	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994535	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56154109	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56239996	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566590	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs574586	0.82[EUR][1000 genomes]
rs575479	0.81[EUR][1000 genomes]
rs589253	0.92[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.82[EUR][1000 genomes]
rs593525	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606978	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs613924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs617791	0.80[GIH][hapmap]
rs624273	0.85[CEU][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap];0.86[EUR][1000 genomes]
rs632578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642293	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649000	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653236	0.81[EUR][1000 genomes]
rs653914	0.83[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap]
rs655744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659982	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs660118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs677029	0.83[CHB][hapmap];0.82[GIH][hapmap]
rs679581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688862	0.85[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs7105628	0.89[AMR][1000 genomes];0.92[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
rs550435	BANF1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 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	chr11:65730800-65732800	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:65730800-65741600	Weak transcription	Fetal Heart	heart
5	chr11:65731000-65732800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:65731000-65733000	Weak transcription	Fetal Kidney	kidney
7	chr11:65731000-65733200	Weak transcription	Fetal Brain Male	brain
8	chr11:65731000-65736000	Weak transcription	Psoas Muscle	Psoas
9	chr11:65731000-65736600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:65731000-65737400	Strong transcription	Primary B cells from cord blood	blood
11	chr11:65731000-65738000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:65731000-65744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:65731200-65733400	Genic enhancers	Spleen	Spleen
14	chr11:65731200-65734800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:65731200-65735800	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:65731200-65735800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:65731200-65738200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:65731200-65738200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:65731400-65732800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:65731400-65734800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr11:65731400-65736400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:65731400-65736400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65731400-65736600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65731400-65737200	Strong transcription	Aorta	Aorta
29	chr11:65731400-65737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:65731400-65738000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:65731400-65738000	Strong transcription	Gastric	stomach
32	chr11:65731400-65738200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:65731400-65738200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:65731400-65738200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:65731400-65738200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:65731400-65738200	Strong transcription	Colonic Mucosa	Colon
37	chr11:65731400-65738200	Strong transcription	Fetal Lung	lung
38	chr11:65731400-65738200	Strong transcription	NHLF	lung
39	chr11:65731400-65738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:65731400-65738400	Strong transcription	Osteobl	bone
41	chr11:65731400-65741600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
44	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
45	chr11:65731600-65732800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:65731600-65733000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:65731600-65733000	Strong transcription	Placenta	Placenta
48	chr11:65731600-65733600	Strong transcription	HSMM	muscle
49	chr11:65731600-65734400	Strong transcription	GM12878-XiMat	blood
50	chr11:65731600-65734800	Strong transcription	HepG2	liver

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