Variant report

Variant	rs72930942
Chromosome Location	chr11:65765074-65765075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:65764858-65765080	K562	blood:	n/a	n/a
2	POLR2A	chr11:65764762-65765199	K562	blood:	n/a	n/a
3	POLR2A	chr11:65764786-65765741	GM12878	blood:	n/a	n/a
4	TEAD4	chr11:65764763-65765145	K562	blood:	n/a	n/a
5	CTCF	chr11:65765020-65765170	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:65764753-65765214	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65764734-65765351	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:65764828-65765086	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:65764804-65765219	K562	blood:	n/a	n/a
10	POLR2A	chr11:65764712-65765310	K562	blood:	n/a	n/a
11	POLR2A	chr11:65765043-65765314	K562	blood:	n/a	n/a
12	CEBPB	chr11:65764779-65765122	K562	blood:	n/a	n/a
13	TAL1	chr11:65764834-65765132	K562	blood:	n/a	n/a
14	POLR2A	chr11:65764697-65765336	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:65764707-65765231	HL-60	blood:	n/a	n/a
16	TEAD4	chr11:65764757-65765172	K562	blood:	n/a	n/a
17	CTCF	chr11:65764960-65765110	A549	lung:	n/a	n/a
18	POLR2A	chr11:65764807-65765233	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65758864..65760871-chr11:65762649..65765214,2	MCF-7	breast:
2	chr11:65749395..65751656-chr11:65763529..65766422,3	K562	blood:
3	chr11:65764048..65767930-chr11:65768133..65771443,5	MCF-7	breast:
4	chr11:65764589..65766874-chr11:65774811..65776588,2	K562	blood:
5	chr11:65762506..65765263-chr11:67235744..67237366,2	MCF-7	breast:
6	chr11:65755347..65758083-chr11:65763733..65766415,2	K562	blood:
7	chr11:65743310..65746046-chr11:65763797..65766517,3	MCF-7	breast:
8	chr11:65755935..65759042-chr11:65762460..65765703,3	MCF-7	breast:
9	chr11:65762816..65765321-chr11:65799547..65802531,2	MCF-7	breast:
10	chr11:65748017..65751656-chr11:65762573..65766422,5	K562	blood:

No data

Variant related genes	Relation type
BANF1	TF binding region
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11545221	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12574568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575004	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575514	0.91[ASN][1000 genomes]
rs12575735	0.93[ASN][1000 genomes]
rs12576095	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576287	0.99[ASN][1000 genomes]
rs12577165	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577625	0.91[ASN][1000 genomes]
rs2276015	0.91[ASN][1000 genomes]
rs2276017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277305	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372938	0.91[ASN][1000 genomes]
rs3825068	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968007	0.90[ASN][1000 genomes]
rs58905199	0.91[ASN][1000 genomes]
rs59156593	0.90[EUR][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs67232706	0.89[ASN][1000 genomes]
rs67530871	0.89[ASN][1000 genomes]
rs72928826	0.90[EUR][1000 genomes]
rs72928828	0.91[ASN][1000 genomes]
rs72928830	0.91[ASN][1000 genomes]
rs72928831	0.84[ASN][1000 genomes]
rs72928860	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928879	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928892	0.85[EUR][1000 genomes]
rs72928895	0.85[EUR][1000 genomes]
rs72928898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930912	0.85[EUR][1000 genomes]
rs72930914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930958	0.85[EUR][1000 genomes]
rs72930964	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930967	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930974	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930976	0.85[EUR][1000 genomes]
rs72930978	0.85[EUR][1000 genomes]
rs72930984	0.85[EUR][1000 genomes]
rs72930985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943575	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:126 , 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	chr11:65747400-65765200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:65755200-65766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65757000-65766200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:65757400-65767600	Weak transcription	Stomach Mucosa	stomach
7	chr11:65760000-65765200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:65761200-65767400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:65761200-65767800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65761800-65767400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:65761800-65767600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:65761800-65767600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:65762000-65767400	Strong transcription	Fetal Thymus	thymus
14	chr11:65762200-65767600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:65762200-65767600	Strong transcription	Fetal Stomach	stomach
16	chr11:65762400-65767000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:65762400-65767600	Strong transcription	Primary T cells from cord blood	blood
18	chr11:65762400-65767600	Strong transcription	Thymus	Thymus
19	chr11:65762400-65767800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:65762400-65767800	Strong transcription	NHEK	skin
21	chr11:65762600-65767400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:65762800-65767600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:65763000-65767800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:65763600-65767600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:65763800-65766000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:65764000-65767200	Strong transcription	Brain Germinal Matrix	brain
27	chr11:65764000-65767600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65764000-65767600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:65764000-65767600	Strong transcription	Brain Substantia Nigra	brain
30	chr11:65764000-65767600	Strong transcription	Placenta	Placenta
31	chr11:65764000-65767800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:65764000-65767800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:65764000-65768600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:65764200-65766800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:65764200-65767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:65764200-65767000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:65764200-65767400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:65764200-65767400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr11:65764200-65767400	Strong transcription	Liver	Liver
40	chr11:65764200-65767400	Strong transcription	Spleen	Spleen
41	chr11:65764200-65767600	Strong transcription	Primary B cells from cord blood	blood
42	chr11:65764200-65767600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:65764200-65767600	Strong transcription	Adipose Nuclei	Adipose
44	chr11:65764200-65767600	Strong transcription	Brain Anterior Caudate	brain
45	chr11:65764200-65767600	Strong transcription	Colon Smooth Muscle	Colon
46	chr11:65764200-65767600	Strong transcription	Gastric	stomach
47	chr11:65764200-65767600	Strong transcription	Right Ventricle	heart
48	chr11:65764200-65767600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:65764200-65767600	Strong transcription	A549	lung
50	chr11:65764200-65767600	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links