Variant report

Variant	nsv983092
Chromosome Location	chr11:71351517-71355735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567642034	chr11:71351524-71351525	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535153873	chr11:71351533-71351534	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553198006	chr11:71351536-71351537	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61890102	chr11:71351601-71351602	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77926956	chr11:71351609-71351610	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540912151	chr11:71351623-71351624	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111767931	chr11:71351631-71351632	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571506229	chr11:71351637-71351638	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185418367	chr11:71351651-71351652	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147812625	chr11:71351654-71351655	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61890103	chr11:71351666-71351667	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189731633	chr11:71351668-71351669	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368988842	chr11:71351689-71351690	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12361821	chr11:71351703-71351704	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112236341	chr11:71351705-71351706	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554583279	chr11:71351710-71351711	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79452747	chr11:71351711-71351712	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113252665	chr11:71351723-71351724	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572829433	chr11:71351729-71351730	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182727152	chr11:71351747-71351748	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73534889	chr11:71351750-71351751	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559480176	chr11:71351751-71351752	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77872958	chr11:71351771-71351772	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533353197	chr11:71351786-71351787	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113583929	chr11:71351793-71351794	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545269369	chr11:71351832-71351833	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112574360	chr11:71351848-71351849	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574148819	chr11:71351851-71351852	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531272811	chr11:71351858-71351859	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34299845	chr11:71351887-71351888	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11234373	chr11:71351912-71351913	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs200812497	chr11:71351942-71351943	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187014371	chr11:71351947-71351948	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200882152	chr11:71351958-71351959	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10128574	chr11:71351963-71351964	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201630576	chr11:71351995-71351996	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116695275	chr11:71351996-71351997	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545359845	chr11:71351997-71351998	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547122205	chr11:71352037-71352038	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571418159	chr11:71352050-71352051	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192909206	chr11:71352056-71352057	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557184778	chr11:71352062-71352063	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183822497	chr11:71352068-71352069	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188316118	chr11:71352083-71352084	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113974771	chr11:71352090-71352091	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10128703	chr11:71352092-71352093	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117189219	chr11:71352122-71352123	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558254501	chr11:71352123-71352124	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577782705	chr11:71352142-71352143	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193282234	chr11:71352159-71352160	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71350400-71351800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:71350400-71351800	Active TSS	Fetal Intestine Large	intestine
3	chr11:71350400-71351800	Active TSS	Fetal Intestine Small	intestine
4	chr11:71350400-71352000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:71350600-71351800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:71350800-71354400	Weak transcription	Esophagus	oesophagus
7	chr11:71351200-71353400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:71351400-71351800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr11:71351400-71351800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:71351400-71351800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:71351400-71351800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr11:71351600-71351800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr11:71351800-71352000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:71351800-71352000	Enhancers	Fetal Intestine Large	intestine
15	chr11:71351800-71352000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr11:71351800-71352200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:71352000-71352200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr11:71352000-71352200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:71352000-71352200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:71352000-71357600	Weak transcription	Fetal Intestine Large	intestine
21	chr11:71352000-71357800	Weak transcription	Fetal Intestine Small	intestine
22	chr11:71352200-71352400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:71353400-71359800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:71353800-71354000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:71354000-71366400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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