Variant report

Variant	nsv983200
Chromosome Location	chr11:127602063-127605649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7130521	chr11:127602150-127602151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557324164	chr11:127602158-127602159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577268976	chr11:127602212-127602213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150284479	chr11:127602222-127602223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370664751	chr11:127602291-127602292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557594826	chr11:127602299-127602300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574265016	chr11:127602321-127602322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10893727	chr11:127602339-127602340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549202700	chr11:127602341-127602342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528577985	chr11:127602345-127602346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573670170	chr11:127602427-127602428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11221021	chr11:127602472-127602473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371084786	chr11:127602476-127602477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372852298	chr11:127602516-127602517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190730749	chr11:127602615-127602616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183267580	chr11:127602694-127602695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550707580	chr11:127602749-127602750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569905119	chr11:127602773-127602774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567445979	chr11:127602782-127602783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4298912	chr11:127602793-127602794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186392633	chr11:127602904-127602905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374703039	chr11:127602905-127602906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565580258	chr11:127602913-127602914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552934516	chr11:127602967-127602968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534412780	chr11:127602985-127602986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192054252	chr11:127603005-127603006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571020985	chr11:127603017-127603018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137912568	chr11:127603092-127603093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75740040	chr11:127603096-127603097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574251582	chr11:127603099-127603100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577668751	chr11:127603113-127603114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553519466	chr11:127603118-127603119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545729965	chr11:127603148-127603149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116602138	chr11:127603194-127603195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563945628	chr11:127603216-127603217	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144668052	chr11:127603250-127603251	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs79470762	chr11:127603315-127603316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571219761	chr11:127603359-127603360	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544574453	chr11:127603409-127603410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4074656	chr11:127603438-127603439	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529179633	chr11:127603476-127603477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116437093	chr11:127603517-127603518	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565643324	chr11:127603519-127603520	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528233229	chr11:127603561-127603562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551179018	chr11:127603638-127603639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547037548	chr11:127603661-127603662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536772375	chr11:127603695-127603696	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567351763	chr11:127603765-127603766	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556897579	chr11:127603830-127603831	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567188867	chr11:127603861-127603862	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Multiple myeloma	17550852	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	20823134	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19571808	CNVD
Multiple myeloma	16616336	CNVD
Myelodysplastic syndrome	18663149	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Urothelial carcinoma	21177765	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21045282	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127601400-127602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:127601400-127603200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:127602200-127602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:127602600-127606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:127603000-127603800	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:127603000-127603800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:127603000-127604000	Enhancers	Brain Germinal Matrix	brain
8	chr11:127603000-127604800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:127603200-127604400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:127603400-127603800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:127603400-127604000	Enhancers	Dnd41	blood
12	chr11:127603800-127604000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr11:127603800-127604600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:127603800-127608600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:127604000-127604200	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:127604000-127608200	Weak transcription	Brain Germinal Matrix	brain
17	chr11:127604200-127604400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:127604400-127606400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:127604400-127606600	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:127604600-127605800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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