Variant report

Variant	esv3422413
Chromosome Location	chr11:65217601-65220149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:65220089-65220236	Hela-S3	cervix:	n/a	chr11:65220109-65220120
2	CEBPB	chr11:65220098-65220215	A549	lung:	n/a	chr11:65220109-65220120
3	CEBPB	chr11:65220045-65220245	HepG2	liver:	n/a	chr11:65220109-65220120
4	CHD1	chr11:65183014-65218224	IMR90	lung:	n/a	chr11:65189696-65189706 chr11:65213009-65213016
5	EP300	chr11:65220097-65220659	SK-N-SH_RA	brain:	n/a	chr11:65220502-65220509
6	EP300	chr11:65220128-65220607	SK-N-SH_RA	brain:	n/a	chr11:65220502-65220509
7	GATA3	chr11:65220114-65220948	SK-N-SH	brain:	n/a	chr11:65220705-65220718
8	KAP1	chr11:65218061-65218227	HEK293	kidney:	n/a	n/a
9	MAX	chr11:65220128-65220696	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr11:65220066-65221003	SK-N-SH	brain:	n/a	n/a
11	NR2F2	chr11:65219452-65220008	K562	blood:	n/a	n/a
12	NR2F2	chr11:65219551-65219853	K562	blood:	n/a	n/a
13	NR3C1	chr11:65218909-65219470	A549	lung:	n/a	n/a
14	PAX5	chr11:65217856-65218064	GM12878	blood:	n/a	n/a
15	PAX5	chr11:65217867-65218164	GM12878	blood:	n/a	n/a
16	PBX3	chr11:65220036-65221065	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr11:65220124-65220947	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:65209087-65217647	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:65220131-65220700	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr11:65217802-65218316	U87	brain:	n/a	n/a
21	POLR2A	chr11:65189948-65217642	U87	brain:	n/a	n/a
22	POLR2A	chr11:65217336-65217624	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr11:65219846-65221167	U87	brain:	n/a	n/a
24	POLR2A	chr11:65210351-65217672	IMR90	lung:	n/a	n/a
25	POLR2A	chr11:65219993-65220851	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr11:65219800-65221139	U87	brain:	n/a	n/a
27	POLR2A	chr11:65204692-65218221	U87	brain:	n/a	n/a
28	POLR2A	chr11:65204679-65217682	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:65217899-65217933	IMR90	lung:	n/a	n/a
30	POLR2A	chr11:65218921-65219444	A549	lung:	n/a	n/a
31	POLR2A	chr11:65219867-65221167	U87	brain:	n/a	n/a
32	POLR2A	chr11:65204686-65217768	U87	brain:	n/a	n/a
33	POLR2A	chr11:65219749-65221240	U87	brain:	n/a	n/a
34	POLR2A	chr11:65220101-65220783	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr11:65220125-65220513	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr11:65220010-65221032	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr11:65210263-65217611	U87	brain:	n/a	n/a
38	SETDB1	chr11:65218013-65218409	U2OS	brain:	n/a	n/a
39	SIN3AK20	chr11:65220120-65220404	PFSK-1	brain:	n/a	n/a
40	SIN3AK20	chr11:65220123-65220650	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr11:65219915-65221094	SK-N-SH	brain:	n/a	chr11:65220699-65220709
42	TCF12	chr11:65219871-65221149	SK-N-SH	brain:	n/a	chr11:65220699-65220709

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
2	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000769.1-1	chr11:65219924-65221119	NONHSAT022120
2	lnc-AP000769.1-1	chr11:65218531-65218571	NONHSAT022120

Variant related genes	Relation type
ENSG00000173727	TF binding region
ENSG00000270117	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000270526	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000173727	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57311037	chr11:65217626-65217627	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190681361	chr11:65217691-65217692	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs3015965	chr11:65217734-65217735	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs577464530	chr11:65217737-65217738	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546427496	chr11:65217794-65217795	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs71064883	chr11:65217840-65217841	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs551042276	chr11:65217858-65217859	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560050959	chr11:65217865-65217866	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs199497974	chr11:65217872-65217873	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567598219	chr11:65217874-65217875	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs528816291	chr11:65217886-65217887	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs536600490	chr11:65217897-65217898	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs182515361	chr11:65217951-65217952	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187345112	chr11:65217957-65217958	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs542186056	chr11:65218012-65218013	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs562098727	chr11:65218013-65218014	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs142601087	chr11:65218014-65218015	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs10896000	chr11:65218018-65218019	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs538467741	chr11:65218029-65218030	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs10896001	chr11:65218038-65218039	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs553824054	chr11:65218040-65218041	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs532929485	chr11:65218046-65218047	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs10896002	chr11:65218064-65218065	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs566359623	chr11:65218065-65218066	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs146937370	chr11:65218099-65218100	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs555417353	chr11:65218100-65218101	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150101522	chr11:65218101-65218102	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs2957270	chr11:65218102-65218103	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs557844791	chr11:65218127-65218128	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs540202548	chr11:65218136-65218137	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577826860	chr11:65218155-65218156	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs61893774	chr11:65218156-65218157	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs553581419	chr11:65218172-65218173	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs573611021	chr11:65218207-65218208	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188691346	chr11:65218213-65218214	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs193226777	chr11:65218216-65218217	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs565376121	chr11:65218235-65218236	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs575554478	chr11:65218239-65218240	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs544216815	chr11:65218282-65218283	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs564215009	chr11:65218365-65218366	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs533232965	chr11:65218378-65218379	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs546725536	chr11:65218395-65218396	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs79346742	chr11:65218428-65218429	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs550801693	chr11:65218435-65218436	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs529124865	chr11:65218439-65218440	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs548624927	chr11:65218448-65218449	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549211009	chr11:65218479-65218480	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs569063082	chr11:65218500-65218501	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs144442137	chr11:65218504-65218505	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs374636699	chr11:65218518-65218519	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65206600-65222000	Weak transcription	Fetal Kidney	kidney
2	chr11:65210000-65222000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:65210000-65222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:65210800-65222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:65211200-65220000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65211400-65222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:65211600-65221800	Weak transcription	HUVEC	blood vessel
8	chr11:65212200-65221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:65212200-65222000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:65212200-65222200	Weak transcription	Liver	Liver
11	chr11:65212400-65219800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:65212400-65220000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:65212400-65222000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:65212400-65222000	Weak transcription	Aorta	Aorta
15	chr11:65212400-65222000	Weak transcription	Fetal Lung	lung
16	chr11:65212600-65222000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:65212800-65220000	Weak transcription	HMEC	breast
18	chr11:65212800-65221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:65212800-65222000	Weak transcription	Primary T cells from cord blood	blood
20	chr11:65212800-65222000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:65212800-65222200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:65212800-65222400	Weak transcription	Stomach Mucosa	stomach
23	chr11:65213000-65221800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:65213000-65222000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:65213200-65219800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:65213200-65221800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:65213400-65220200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:65213400-65222000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:65213400-65222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:65213800-65222000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:65213800-65222200	Weak transcription	Gastric	stomach
32	chr11:65213800-65222200	Weak transcription	Pancreas	Pancrea
33	chr11:65214000-65220200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:65214000-65221800	Weak transcription	Right Atrium	heart
35	chr11:65214200-65220200	Weak transcription	NH-A	brain
36	chr11:65214200-65220400	Weak transcription	Lung	lung
37	chr11:65214200-65222000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:65214200-65222000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:65214200-65222200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:65214400-65220000	Weak transcription	NHEK	skin
41	chr11:65214400-65220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65214400-65221800	Weak transcription	Thymus	Thymus
43	chr11:65214400-65221800	Weak transcription	Spleen	Spleen
44	chr11:65214400-65222000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:65214400-65222200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:65214400-65222200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:65214600-65218400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:65214600-65220000	Weak transcription	Adipose Nuclei	Adipose
49	chr11:65214600-65220000	Weak transcription	NHDF-Ad	bronchial
50	chr11:65214600-65220200	Weak transcription	Esophagus	oesophagus

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