Variant report

Variant	esv3394863
Chromosome Location	chr11:71912103-71912670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71830114..71831813-chr11:71912584..71915054,2	MCF-7	breast:
2	chr11:71912622..71915956-chr11:71917923..71921689,3	K562	blood:
3	chr11:71911826..71915814-chr11:71931588..71936470,5	MCF-7	breast:
4	chr11:71738692..71740500-chr11:71910713..71912758,2	K562	blood:
5	chr11:71911722..71914481-chr11:71934038..71936819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204971	chromatin interactions
ENSG00000165458	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376719290	chr11:71912209-71912210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199889741	chr11:71912210-71912211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201201762	chr11:71912214-71912215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572223973	chr11:71912220-71912221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200898433	chr11:71912222-71912223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200395914	chr11:71912231-71912232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545847877	chr11:71912232-71912233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564060191	chr11:71912238-71912239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71052858	chr11:71912241-71912242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576249388	chr11:71912245-71912246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368345851	chr11:71912249-71912250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543543889	chr11:71912279-71912280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373258396	chr11:71912288-71912289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376596267	chr11:71912311-71912312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370322251	chr11:71912335-71912336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61889243	chr11:71912342-71912343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148881113	chr11:71912359-71912360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201525364	chr11:71912363-71912364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199550313	chr11:71912364-71912365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200833786	chr11:71912366-71912367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561729253	chr11:71912370-71912371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530334386	chr11:71912382-71912383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201012594	chr11:71912385-71912386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367724531	chr11:71912394-71912395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201083582	chr11:71912395-71912396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371125946	chr11:71912410-71912411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560871295	chr11:71912430-71912431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369970907	chr11:71912462-71912463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527964112	chr11:71912478-71912479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111154275	chr11:71912498-71912499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373057720	chr11:71912510-71912511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552194372	chr11:71912529-71912530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377396684	chr11:71912534-71912535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369275484	chr11:71912541-71912542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373082585	chr11:71912553-71912554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376218410	chr11:71912554-71912555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570509127	chr11:71912555-71912556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372372105	chr11:71912560-71912561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374731491	chr11:71912561-71912562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62647646	chr11:71912563-71912564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202187653	chr11:71912565-71912566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368213663	chr11:71912572-71912573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531552037	chr11:71912580-71912581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549878281	chr11:71912586-71912587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568434592	chr11:71912587-71912588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181256300	chr11:71912589-71912590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202140164	chr11:71912604-71912605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371345132	chr11:71912611-71912612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200047137	chr11:71912612-71912613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200676789	chr11:71912613-71912614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71906200-71912200	Enhancers	Placenta	Placenta
2	chr11:71910600-71914000	Weak transcription	Hela-S3	cervix
3	chr11:71910600-71915200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:71911000-71914000	Weak transcription	Primary monocytes fromperipheralblood	blood

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