Variant report

Variant	esv2760215
Chromosome Location	chr11:36559278-36573022
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:36531340..36531969-chr11:36562411..36563083,2	MCF-7	breast:
2	chr11:36536744..36537582-chr11:36562601..36563262,2	MCF-7	breast:
3	chr11:36514029..36514979-chr11:36562385..36563157,2	MCF-7	breast:
4	chr11:36559925..36562026-chr11:36563187..36566000,2	K562	blood:
5	chr11:36559925..36562026-chr11:36563187..36566000,2	K562	blood:
6	chr11:36560056..36562642-chr11:36572222..36573907,2	K562	blood:
7	chr11:36560056..36562642-chr11:36572222..36573907,2	K562	blood:
8	chr11:36530362..36534176-chr11:36559557..36562843,5	MCF-7	breast:
9	chr11:36536896..36537811-chr11:36562260..36562826,2	MCF-7	breast:
10	chr11:36531118..36531933-chr11:36562059..36562821,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG2-2	chr11:36572860-36573321	refGeneNc_553_NR_033666

No data

Variant related genes	Relation type
ENSG00000175104	chromatin interactions
ENSG00000166349	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144465844	chr11:36559596-36559597	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542115038	chr11:36559708-36559709	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147669316	chr11:36559737-36559738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369534900	chr11:36559818-36559819	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190334055	chr11:36559828-36559829	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553820170	chr11:36559837-36559838	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571904647	chr11:36559864-36559865	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545621037	chr11:36559875-36559876	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142336282	chr11:36559916-36559917	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181248434	chr11:36559939-36559940	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565346888	chr11:36559944-36559945	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185352338	chr11:36560012-36560013	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79215426	chr11:36560059-36560060	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114475068	chr11:36560069-36560070	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116585729	chr11:36560072-36560073	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116095350	chr11:36560107-36560108	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12363440	chr11:36560135-36560136	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550165494	chr11:36560137-36560138	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376316434	chr11:36560143-36560144	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570329054	chr11:36560152-36560153	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572207888	chr11:36560156-36560157	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532566802	chr11:36560175-36560176	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552753157	chr11:36560207-36560208	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190011947	chr11:36560220-36560221	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146611750	chr11:36560235-36560236	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148321457	chr11:36560243-36560244	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201902752	chr11:36560259-36560260	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537053759	chr11:36560277-36560278	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113678666	chr11:36560374-36560375	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182974314	chr11:36560395-36560396	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371955322	chr11:36560442-36560443	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140481713	chr11:36560452-36560453	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545816750	chr11:36560461-36560462	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553183647	chr11:36560485-36560486	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573124133	chr11:36560524-36560525	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148976968	chr11:36560552-36560553	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541526537	chr11:36560555-36560556	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543004434	chr11:36560584-36560585	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561734476	chr11:36560607-36560608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187561709	chr11:36560690-36560691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs192489851	chr11:36560692-36560693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543818927	chr11:36560698-36560699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115649995	chr11:36560707-36560708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6484862	chr11:36560795-36560796	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552478719	chr11:36560814-36560815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565931219	chr11:36560815-36560816	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527715735	chr11:36561020-36561021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200920033	chr11:36561029-36561030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369904058	chr11:36561052-36561053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528672145	chr11:36561053-36561054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36559800-36560600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:36560200-36560400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:36560600-36562400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:36561600-36562000	Enhancers	Thymus	Thymus
5	chr11:36562000-36562400	Weak transcription	Thymus	Thymus
6	chr11:36562200-36562400	Enhancers	Brain Substantia Nigra	brain
7	chr11:36562200-36563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:36562400-36562600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:36562400-36562600	Enhancers	HMEC	breast
10	chr11:36562400-36562800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:36562400-36562800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:36562400-36562800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:36562400-36562800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:36562400-36562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:36562400-36562800	Enhancers	Brain Angular Gyrus	brain
16	chr11:36562400-36562800	Active TSS	Brain Hippocampus Middle	brain
17	chr11:36562400-36562800	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr11:36562400-36562800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:36562400-36562800	Enhancers	Fetal Intestine Small	intestine
20	chr11:36562400-36563000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:36562400-36563000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:36562400-36563000	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:36562400-36563000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:36562400-36563000	Enhancers	Thymus	Thymus
25	chr11:36562400-36563000	Active TSS	GM12878-XiMat	blood
26	chr11:36562400-36563000	Enhancers	HSMM	muscle
27	chr11:36562400-36563000	Enhancers	HSMMtube	muscle
28	chr11:36562400-36563000	Enhancers	HUVEC	blood vessel
29	chr11:36562400-36563000	Enhancers	K562	blood
30	chr11:36562400-36563200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:36562400-36563200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:36562400-36563200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:36562400-36563200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:36562400-36563200	Enhancers	Brain Anterior Caudate	brain
35	chr11:36562400-36563200	Enhancers	Fetal Thymus	thymus
36	chr11:36562400-36563400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:36562600-36562800	Enhancers	Colon Smooth Muscle	Colon
38	chr11:36562600-36562800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:36562600-36563000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:36562600-36563000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:36562600-36563000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:36562600-36563000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:36562600-36563400	Enhancers	Fetal Stomach	stomach
44	chr11:36562800-36563200	Enhancers	Brain Substantia Nigra	brain
45	chr11:36562800-36563200	Enhancers	Fetal Lung	lung
46	chr11:36571400-36572600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:36571600-36572800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:36571800-36572600	Enhancers	Dnd41	blood
49	chr11:36572000-36572800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:36572000-36573000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links