Variant report

Variant	rs72930978
Chromosome Location	chr11:65773848-65773849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65772806-65775648	U87	brain:	n/a	n/a
2	POLR2A	chr11:65773575-65774642	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:65772337-65774306	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:65773496-65773881	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:65773392-65773942	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:65772818-65775461	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:65773040-65774342	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:65772265-65775038	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:65772838-65775713	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:65772812-65775253	U87	brain:	n/a	n/a
11	POLR2A	chr11:65773449-65774850	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:65772733-65774625	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:65771689-65774819	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:65772882-65773853	U87	brain:	n/a	n/a
15	POLR2A	chr11:65773702-65774082	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:65773696-65774228	GM12878	blood:	n/a	n/a
17	MAX	chr11:65773780-65775010	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:65772768-65775067	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:65773087-65775416	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:65773425-65775100	K562	blood:	n/a	n/a
21	POLR2A	chr11:65773701-65773865	A549	lung:	n/a	n/a
22	POLR2A	chr11:65773416-65776059	GM12878	blood:	n/a	n/a
23	EP300	chr11:65773823-65775185	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr11:65772986-65774102	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:65773380-65775738	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:65773735-65774083	A549	lung:	n/a	n/a
27	POLR2A	chr11:65772760-65774233	K562	blood:	n/a	n/a
28	POLR2A	chr11:65772807-65774270	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:65772803-65776533	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:65773675-65775065	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:65773785-65773911	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:65772882-65773914	U87	brain:	n/a	n/a
33	POLR2A	chr11:65773708-65774088	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:65772887-65775029	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:65771558-65775410	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:65772723-65774006	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:65772714-65774343	K562	blood:	n/a	n/a
38	POLR2A	chr11:65773588-65775086	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr11:65772803-65774209	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr11:65773656-65774143	A549	lung:	n/a	n/a
41	POLR2A	chr11:65773758-65774059	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:65772751-65775688	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:65772918-65773978	GM12892	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65772051..65774698-chr11:65790348..65792220,2	MCF-7	breast:
2	chr11:65771907..65774100-chr11:65786406..65788700,2	MCF-7	breast:
3	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
4	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
5	chr11:65771785..65773874-chr11:65806005..65808785,2	K562	blood:
6	chr11:65762401..65764466-chr11:65772379..65774986,2	K562	blood:
7	chr11:65771750..65774477-chr11:65818494..65820142,2	MCF-7	breast:
8	chr11:65773040..65775229-chr11:66016141..66017720,2	K562	blood:
9	chr11:65772848..65775504-chr11:65827770..65830052,2	K562	blood:
10	chr11:65772402..65774686-chr11:65805406..65808291,2	MCF-7	breast:
11	chr11:65730326..65732410-chr11:65773010..65775990,2	MCF-7	breast:
12	chr11:65623667..65626453-chr11:65773319..65774880,2	MCF-7	breast:
13	chr11:65773321..65775670-chr11:65834388..65836189,2	K562	blood:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175294	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12574568	0.85[EUR][1000 genomes]
rs12576095	0.85[EUR][1000 genomes]
rs12577165	0.85[EUR][1000 genomes]
rs2276017	0.85[EUR][1000 genomes]
rs2277305	0.85[EUR][1000 genomes]
rs3825068	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72926898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes]
rs72928851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928868	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72928884	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928898	0.85[EUR][1000 genomes]
rs72928900	0.85[EUR][1000 genomes]
rs72930912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930914	0.85[EUR][1000 genomes]
rs72930933	0.85[EUR][1000 genomes]
rs72930942	0.85[EUR][1000 genomes]
rs72930945	0.81[EUR][1000 genomes]
rs72930951	0.85[EUR][1000 genomes]
rs72930952	0.85[EUR][1000 genomes]
rs72930956	0.85[EUR][1000 genomes]
rs72930958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930964	0.85[EUR][1000 genomes]
rs72930967	0.85[EUR][1000 genomes]
rs72930974	0.85[EUR][1000 genomes]
rs72930976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930985	0.90[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];0.89[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65770800-65774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:65770800-65775200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:65771000-65774000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:65771000-65774600	Strong transcription	Thymus	Thymus
5	chr11:65771000-65776000	Weak transcription	Small Intestine	intestine
6	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
8	chr11:65771200-65774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:65771200-65774000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:65771200-65774000	Strong transcription	Fetal Lung	lung
11	chr11:65771200-65774000	Strong transcription	NHEK	skin
12	chr11:65771200-65774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:65771200-65774200	Strong transcription	Primary T cells from cord blood	blood
14	chr11:65771200-65774200	Strong transcription	Brain Germinal Matrix	brain
15	chr11:65771200-65774200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:65771200-65774400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:65771200-65774400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:65771200-65774400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:65771200-65774400	Strong transcription	Fetal Brain Female	brain
20	chr11:65771200-65774400	Strong transcription	Placenta	Placenta
21	chr11:65771200-65774400	Strong transcription	Lung	lung
22	chr11:65771200-65774400	Strong transcription	NHLF	lung
23	chr11:65771200-65774800	Strong transcription	Fetal Stomach	stomach
24	chr11:65771200-65775400	Weak transcription	HUVEC	blood vessel
25	chr11:65771200-65779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:65771200-65779200	Weak transcription	Right Atrium	heart
27	chr11:65771400-65774000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65771400-65774400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:65771400-65775000	Strong transcription	Fetal Intestine Small	intestine
30	chr11:65771600-65774000	Strong transcription	Primary B cells from cord blood	blood
31	chr11:65771600-65774000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:65771600-65774000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:65771600-65774200	Strong transcription	Adipose Nuclei	Adipose
34	chr11:65771600-65774200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:65771600-65774400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:65771600-65774600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:65771800-65774000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:65771800-65774400	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:65771800-65774600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:65771800-65775000	Weak transcription	Fetal Brain Male	brain
41	chr11:65771800-65775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:65772000-65774000	Strong transcription	Fetal Thymus	thymus
43	chr11:65772000-65774200	Strong transcription	Pancreas	Pancrea
44	chr11:65772000-65774400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:65772000-65774600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:65772000-65775200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:65772000-65776200	Weak transcription	Esophagus	oesophagus
48	chr11:65772000-65776600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:65772200-65774000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65772200-65774400	Weak transcription	HepG2	liver

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