Variant report

Variant	rs12721573
Chromosome Location	chr11:65423305-65423306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65421851..65424621-chr11:65658230..65660930,2	K562	blood:
2	chr11:65420713..65423580-chr11:65469656..65472894,3	MCF-7	breast:
3	chr11:65423022..65424596-chr11:65624434..65626971,2	MCF-7	breast:
4	chr11:65379754..65386537-chr11:65415130..65425067,26	MCF-7	breast:
5	chr11:65420193..65423664-chr11:65635632..65639454,3	K562	blood:

Variant related genes	Relation type
ENSG00000172638	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1078458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1194099	1.00[EUR][1000 genomes]
rs12275175	1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56990327	1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[EUR][1000 genomes]
rs73492424	1.00[EUR][1000 genomes]
rs73492432	1.00[EUR][1000 genomes]
rs7934992	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
6	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
7	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
16	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
19	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
20	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
23	nsv897756	chr11:65406393-65425167	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
24	nsv897757	chr11:65406393-65427568	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
25	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65416800-65423800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65420800-65429800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:65421200-65423600	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:65421200-65423600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:65421200-65424000	Weak transcription	Fetal Brain Male	brain
6	chr11:65421200-65427600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65421200-65428800	Strong transcription	Fetal Brain Female	brain
8	chr11:65421200-65429000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:65421200-65429000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:65421200-65429000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:65421200-65429400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:65421400-65424000	Weak transcription	Fetal Heart	heart
13	chr11:65421400-65424600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:65421400-65427000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65421400-65427800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:65421400-65427800	Strong transcription	Esophagus	oesophagus
17	chr11:65421400-65428000	Strong transcription	Psoas Muscle	Psoas
18	chr11:65421400-65428600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:65421400-65428600	Strong transcription	NHEK	skin
20	chr11:65421400-65428800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:65421400-65428800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr11:65421400-65429000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65421400-65429200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:65421600-65423800	Weak transcription	Fetal Kidney	kidney
25	chr11:65421600-65424800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:65421600-65425200	Weak transcription	Small Intestine	intestine
27	chr11:65421600-65427400	Strong transcription	GM12878-XiMat	blood
28	chr11:65421600-65427800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:65421600-65428200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:65421600-65428600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:65421600-65428600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:65421600-65428800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:65421600-65428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:65421600-65428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:65421600-65428800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr11:65421600-65428800	Strong transcription	A549	lung
37	chr11:65421600-65428800	Strong transcription	HSMM	muscle
38	chr11:65421600-65428800	Strong transcription	Osteobl	bone
39	chr11:65421600-65429000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:65421600-65429000	Strong transcription	Lung	lung
41	chr11:65421600-65429200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:65421600-65429200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:65421800-65427000	Strong transcription	Right Ventricle	heart
44	chr11:65421800-65427800	Strong transcription	Aorta	Aorta
45	chr11:65421800-65429000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:65421800-65429000	Strong transcription	HSMMtube	muscle
47	chr11:65422000-65423600	Genic enhancers	Dnd41	blood
48	chr11:65422000-65424600	Weak transcription	Stomach Mucosa	stomach
49	chr11:65422000-65425200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:65422000-65426600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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