Variant report

Variant	esv3402312
Chromosome Location	chr11:65808901-65811949
allele	n/a
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	chr11:65802624..65805080-chr11:65807648..65810087,2	K562	blood:
2	chr11:65811021..65815121-chr11:65816503..65821449,7	K562	blood:
3	chr11:65805915..65809012-chr11:65818044..65820074,3	MCF-7	breast:
4	chr11:65806835..65809715-chr11:65810972..65814336,3	MCF-7	breast:
5	chr11:65685069..65686601-chr11:65807675..65809413,2	K562	blood:
6	chr11:65788316..65790076-chr11:65810042..65812775,2	K562	blood:
7	chr11:65806019..65808419-chr11:65809949..65812700,3	MCF-7	breast:
8	chr11:65657373..65660327-chr11:65806833..65809672,2	K562	blood:
9	chr11:65810731..65812835-chr11:66047568..66050313,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175573	chromatin interactions
ENSG00000238752	chromatin interactions
ENSG00000174871	chromatin interactions
ENSG00000175294	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000175229	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56325022	chr11:65808922-65808923	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs566205781	chr11:65808976-65808977	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs568861498	chr11:65808985-65808986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs561298028	chr11:65809036-65809037	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369683301	chr11:65809067-65809068	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143434275	chr11:65809082-65809083	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs190585401	chr11:65809175-65809176	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs79912656	chr11:65809193-65809194	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553246084	chr11:65809200-65809201	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs145828054	chr11:65809246-65809247	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181693607	chr11:65809284-65809285	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562070804	chr11:65809325-65809326	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs575673978	chr11:65809338-65809339	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534803996	chr11:65809397-65809398	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373373881	chr11:65809413-65809414	Strong transcription Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544660320	chr11:65809416-65809417	Strong transcription Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186545670	chr11:65809421-65809422	Strong transcription Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376517925	chr11:65809482-65809483	Strong transcription Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533139704	chr11:65809538-65809539	Strong transcription Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114531991	chr11:65809559-65809560	Strong transcription Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560467683	chr11:65809603-65809604	Strong transcription Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529152907	chr11:65809617-65809618	Strong transcription Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74808436	chr11:65809618-65809619	Strong transcription Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369019978	chr11:65809640-65809641	Strong transcription Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191337926	chr11:65809742-65809743	Strong transcription Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs3814744	chr11:65809763-65809764	Strong transcription Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183300843	chr11:65809817-65809818	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs12223318	chr11:65809828-65809829	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs187424964	chr11:65809865-65809866	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs1125078	chr11:65809875-65809876	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539633550	chr11:65809947-65809948	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs537403406	chr11:65809952-65809953	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs74907097	chr11:65809955-65809956	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs199609324	chr11:65809967-65809968	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs376373263	chr11:65809972-65809973	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs577875657	chr11:65809982-65809983	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs201817577	chr11:65809996-65809997	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs537102680	chr11:65809997-65809998	Strong transcription Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs370662188	chr11:65810014-65810015	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555496575	chr11:65810023-65810024	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4565902	chr11:65810045-65810046	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200909357	chr11:65810067-65810068	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558231025	chr11:65810124-65810125	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577953356	chr11:65810147-65810148	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540430462	chr11:65810185-65810186	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560359996	chr11:65810195-65810196	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61895584	chr11:65810209-65810210	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78578425	chr11:65810239-65810240	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368736631	chr11:65810251-65810252	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371663769	chr11:65810272-65810273	Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
2	chr11:65790400-65812600	Weak transcription	Right Atrium	heart
3	chr11:65790400-65818600	Weak transcription	HSMM	muscle
4	chr11:65803800-65812400	Weak transcription	Pancreas	Pancrea
5	chr11:65805000-65810000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:65805000-65815800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:65805600-65809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65805800-65809000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:65805800-65809400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:65806000-65810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:65806800-65811800	Strong transcription	Fetal Brain Female	brain
12	chr11:65807400-65809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65807400-65812400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:65808200-65812400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:65808400-65809000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:65808400-65809600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:65808400-65809600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:65808400-65810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:65808400-65811600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:65808400-65811800	Strong transcription	Brain Germinal Matrix	brain
21	chr11:65808400-65812000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:65808600-65809400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:65808600-65809400	Strong transcription	Brain Anterior Caudate	brain
24	chr11:65808600-65812400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65808800-65809800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:65808800-65810000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:65808800-65811400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:65808800-65812400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:65809000-65809800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:65809000-65811000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:65809000-65812200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:65809000-65812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:65809200-65810600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:65809400-65811000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:65809400-65811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:65809400-65812400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:65809600-65809800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:65809600-65810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:65809600-65812400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:65809800-65810000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:65809800-65810600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:65809800-65812600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:65809800-65812800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:65809800-65815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:65810000-65811000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:65810000-65811400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:65810000-65811600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:65810000-65811600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:65810000-65812600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:65810200-65813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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