Variant report

Variant	nsv975209
Chromosome Location	chr11:84729502-84732838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:84732724-84732881	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:84730031-84730230	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr11:84732313-84732375	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF263	chr11:84732163-84732843	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
HNRNPCP6	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563687992	chr11:84731813-84731814	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs56251017	chr11:84731836-84731837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567832756	chr11:84731860-84731861	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183497693	chr11:84731879-84731880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550230700	chr11:84731890-84731891	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559383166	chr11:84731942-84731943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571645208	chr11:84731953-84731954	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539180811	chr11:84731994-84731995	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554297382	chr11:84732001-84732002	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572215104	chr11:84732025-84732026	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188098408	chr11:84732040-84732041	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191794885	chr11:84732046-84732047	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs183770227	chr11:84732052-84732053	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs144417817	chr11:84732075-84732076	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs188449143	chr11:84732093-84732094	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs139600108	chr11:84732132-84732133	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564585616	chr11:84732141-84732142	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs145127529	chr11:84732176-84732177	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs540738173	chr11:84732196-84732197	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs150523597	chr11:84732210-84732211	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113133805	chr11:84732219-84732220	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370991814	chr11:84732223-84732224	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs72957784	chr11:84732234-84732235	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549177576	chr11:84732235-84732236	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531937224	chr11:84732261-84732262	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550490747	chr11:84732262-84732263	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56150628	chr11:84732282-84732283	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368477536	chr11:84732283-84732284	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547913739	chr11:84732284-84732285	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566005759	chr11:84732400-84732401	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536735331	chr11:84732402-84732403	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371899528	chr11:84732410-84732411	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374928291	chr11:84732423-84732424	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149657547	chr11:84732512-84732513	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551781699	chr11:84732528-84732529	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536992254	chr11:84732547-84732548	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571740222	chr11:84732584-84732585	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558392047	chr11:84732585-84732586	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145648352	chr11:84732616-84732617	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35859535	chr11:84732634-84732635	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540599421	chr11:84732648-84732649	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553045184	chr11:84732649-84732650	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140383506	chr11:84732651-84732652	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs367999586	chr11:84732664-84732665	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553789887	chr11:84732681-84732682	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192473620	chr11:84732685-84732686	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561368112	chr11:84732714-84732715	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144116203	chr11:84732731-84732732	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs572104164	chr11:84732747-84732748	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs3851176	chr11:84732755-84732756	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84731800-84732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:84731800-84732600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:84731800-84732800	Active TSS	NHDF-Ad	bronchial
4	chr11:84731800-84735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:84732000-84732200	Bivalent Enhancer	A549	lung
6	chr11:84732000-84732600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:84732200-84732600	Active TSS	A549	lung
8	chr11:84732600-84732800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:84732600-84732800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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