Variant report

Variant	esv3435990
Chromosome Location	chr11:71978729-71981277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71980166..71983105-chr11:71990432..71992755,2	K562	blood:

Variant related genes	Relation type
ENSG00000213365	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575507322	chr11:71978775-71978776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74978386	chr11:71978786-71978787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11606083	chr11:71978826-71978827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561120109	chr11:71978835-71978836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562043929	chr11:71978949-71978950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561135916	chr11:71978961-71978962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573118156	chr11:71978962-71978963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540315607	chr11:71979009-71979010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565000622	chr11:71979032-71979033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79584582	chr11:71979062-71979063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76387482	chr11:71979063-71979064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77991976	chr11:71979064-71979065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572510479	chr11:71979076-71979077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532118564	chr11:71979090-71979091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550566847	chr11:71979106-71979107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139343077	chr11:71979148-71979149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116216906	chr11:71979155-71979156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148993752	chr11:71979247-71979248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567504362	chr11:71979276-71979277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118025109	chr11:71979278-71979279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143753439	chr11:71979312-71979313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148122996	chr11:71979344-71979345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59427981	chr11:71979379-71979380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187156589	chr11:71979486-71979487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529146104	chr11:71979522-71979523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55742041	chr11:71979553-71979554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55941613	chr11:71979560-71979561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55804185	chr11:71979569-71979570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547316483	chr11:71979570-71979571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575598516	chr11:71979572-71979573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377486828	chr11:71979573-71979574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536540708	chr11:71979575-71979576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55766410	chr11:71979576-71979577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56281216	chr11:71979582-71979583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56332049	chr11:71979586-71979587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56397287	chr11:71979599-71979600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56143657	chr11:71979602-71979603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141875220	chr11:71979610-71979611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146066511	chr11:71979619-71979620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56160704	chr11:71979635-71979636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540456039	chr11:71979637-71979638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570892460	chr11:71979641-71979642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56308209	chr11:71979645-71979646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55769236	chr11:71979652-71979653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56055411	chr11:71979665-71979666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55739984	chr11:71979670-71979671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7121809	chr11:71979671-71979672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34810387	chr11:71979680-71979681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12796367	chr11:71979681-71979682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55776567	chr11:71979685-71979686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Obesity	19966786	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71974400-71985600	Weak transcription	Hela-S3	cervix
2	chr11:71975400-71980200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:71978000-71980400	Weak transcription	A549	lung
4	chr11:71978600-71980200	Weak transcription	HepG2	liver
5	chr11:71978800-71979600	Enhancers	GM12878-XiMat	blood
6	chr11:71979600-71980000	Weak transcription	GM12878-XiMat	blood
7	chr11:71980000-71981000	Enhancers	GM12878-XiMat	blood
8	chr11:71980200-71980600	Enhancers	HepG2	liver
9	chr11:71980200-71981400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:71980200-71981400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:71980400-71981000	Enhancers	A549	lung
12	chr11:71980400-71981200	Enhancers	Placenta	Placenta
13	chr11:71980600-71984400	Weak transcription	HepG2	liver
14	chr11:71981000-71981200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:71981000-71981200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr11:71981000-71981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:71981000-71981400	Flanking Active TSS	GM12878-XiMat	blood
18	chr11:71981000-71981400	Active TSS	NHDF-Ad	bronchial
19	chr11:71981000-71983000	Weak transcription	A549	lung

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