Variant report

Variant	nsv877722
Chromosome Location	chr3:161915857-161972497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
2	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
3	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
4	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:

Extended variants
information (count: 1078 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9827542	chr3:161915857-161915858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185519601	chr3:161915889-161915890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538698709	chr3:161915923-161915924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558536170	chr3:161915929-161915930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190474787	chr3:161915933-161915934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566007908	chr3:161915937-161915938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183058443	chr3:161915941-161915942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535008517	chr3:161916055-161916056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572077820	chr3:161916074-161916075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539724052	chr3:161916143-161916144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575014718	chr3:161916158-161916159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187686431	chr3:161916230-161916231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562651115	chr3:161916255-161916256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576209316	chr3:161916259-161916260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192075905	chr3:161916272-161916273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138406452	chr3:161916305-161916306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143007856	chr3:161916339-161916340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146146862	chr3:161916391-161916392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139034865	chr3:161916448-161916449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184114430	chr3:161916483-161916484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187509741	chr3:161916485-161916486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1994508	chr3:161916496-161916497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371574398	chr3:161916502-161916503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564535875	chr3:161916529-161916530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532483844	chr3:161916547-161916548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111748131	chr3:161916550-161916551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552227011	chr3:161916584-161916585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565766442	chr3:161916588-161916589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374892994	chr3:161916595-161916596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534685790	chr3:161916654-161916655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569943165	chr3:161916679-161916680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555287150	chr3:161916682-161916683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568657957	chr3:161916683-161916684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13081918	chr3:161916714-161916715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544141097	chr3:161916725-161916726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192720326	chr3:161916748-161916749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577484942	chr3:161916751-161916752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78851351	chr3:161916797-161916798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78346069	chr3:161916805-161916806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144095776	chr3:161916823-161916824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372787398	chr3:161916824-161916825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58979634	chr3:161916851-161916852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76508091	chr3:161916877-161916878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371879119	chr3:161916888-161916889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184707305	chr3:161916890-161916891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555531335	chr3:161916899-161916900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529953426	chr3:161916945-161916946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187338236	chr3:161916990-161916991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561856657	chr3:161917014-161917015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2971445	chr3:161917084-161917085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:161918400-161920800	Weak transcription	NHDF-Ad	bronchial
3	chr3:161918600-161919200	Enhancers	Fetal Lung	lung
4	chr3:161919000-161919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:161920400-161921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:161920600-161921600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:161920600-161921800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:161920800-161921200	Enhancers	NHDF-Ad	bronchial
9	chr3:161920800-161921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:161921200-161929000	Weak transcription	NHDF-Ad	bronchial
11	chr3:161921600-161922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:161921600-161922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:161922000-161922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:161922000-161923200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:161923200-161931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:161928200-161928400	Enhancers	Colon Smooth Muscle	Colon
17	chr3:161928600-161929200	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:161929000-161929400	Enhancers	NHDF-Ad	bronchial
19	chr3:161929000-161930000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:161929200-161929400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:161929200-161929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:161929200-161929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:161929400-161934200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:161929600-161935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:161929800-161935000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:161931400-161932000	Enhancers	Fetal Lung	lung
27	chr3:161931600-161932600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:161932600-161934800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:161934200-161934400	Enhancers	Psoas Muscle	Psoas
30	chr3:161934200-161934400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:161934200-161934800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:161934200-161937000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:161934600-161935200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:161934600-161935600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:161934600-161936200	Enhancers	Adipose Nuclei	Adipose
36	chr3:161934800-161935400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:161934800-161936600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:161934800-161937400	Enhancers	Fetal Stomach	stomach
39	chr3:161935000-161936000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:161935200-161935600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:161935200-161935600	Active TSS	Psoas Muscle	Psoas
42	chr3:161935200-161935800	Bivalent Enhancer	Fetal Lung	lung
43	chr3:161935200-161936000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:161935200-161936000	Enhancers	Osteobl	bone
45	chr3:161935200-161936200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:161935200-161936200	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:161935400-161936200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr3:161935600-161935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:161935600-161935800	Enhancers	Stomach Smooth Muscle	stomach
50	chr3:161935600-161936000	Enhancers	HSMMtube	muscle

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