Variant report

Variant	nsv877719
Chromosome Location	chr3:161847016-161903588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
2	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:
3	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:
4	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 1106 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1510328	chr3:161847016-161847017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10936267	chr3:161847035-161847036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561093355	chr3:161847044-161847045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530158365	chr3:161847064-161847065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543864898	chr3:161847105-161847106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567854544	chr3:161847152-161847153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28698632	chr3:161847205-161847206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56349476	chr3:161847224-161847225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532530831	chr3:161847278-161847279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145666125	chr3:161847330-161847331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149132986	chr3:161847334-161847335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143255939	chr3:161847353-161847354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113501206	chr3:161847357-161847358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115039378	chr3:161847358-161847359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535980125	chr3:161847367-161847368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190543038	chr3:161847371-161847372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182250067	chr3:161847447-161847448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201780933	chr3:161847450-161847451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200132471	chr3:161847497-161847498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78201125	chr3:161847521-161847522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558091064	chr3:161847586-161847587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530517740	chr3:161847607-161847608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138848504	chr3:161847643-161847644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541291150	chr3:161847649-161847650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554486105	chr3:161847651-161847652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574561416	chr3:161847670-161847671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543582475	chr3:161847728-161847729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185778799	chr3:161847735-161847736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187971298	chr3:161847891-161847892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180877070	chr3:161847916-161847917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs954260	chr3:161847918-161847919	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185437001	chr3:161847929-161847930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375230386	chr3:161847944-161847945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190302178	chr3:161847969-161847970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181756828	chr3:161847992-161847993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550376241	chr3:161848005-161848006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531111198	chr3:161848048-161848049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73154018	chr3:161848088-161848089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116723216	chr3:161848119-161848120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186923442	chr3:161848203-161848204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548850249	chr3:161848260-161848261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112670980	chr3:161848321-161848322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565305113	chr3:161848340-161848341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17749844	chr3:161848342-161848343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191950627	chr3:161848365-161848366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550182593	chr3:161848400-161848401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183721874	chr3:161848413-161848414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557150863	chr3:161848490-161848491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577417093	chr3:161848500-161848501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546288665	chr3:161848576-161848577	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161843800-161847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:161844000-161848000	Weak transcription	Fetal Heart	heart
3	chr3:161845000-161847400	Weak transcription	Aorta	Aorta
4	chr3:161847400-161847600	Enhancers	Aorta	Aorta
5	chr3:161847800-161849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:161848000-161848600	Enhancers	Fetal Heart	heart
7	chr3:161848400-161848800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:161848600-161853800	Weak transcription	Fetal Heart	heart
9	chr3:161850200-161850400	Enhancers	Colon Smooth Muscle	Colon
10	chr3:161850400-161856200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:161851200-161851800	Enhancers	Dnd41	blood
12	chr3:161851200-161859000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:161851600-161851800	Enhancers	Primary T cells from cord blood	blood
14	chr3:161851800-161853000	Flanking Active TSS	Dnd41	blood
15	chr3:161852000-161852200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:161852000-161852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:161852200-161852400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:161852200-161852600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:161852200-161852600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:161852200-161852600	Enhancers	Right Atrium	heart
21	chr3:161852200-161852800	Active TSS	Primary T cells from cord blood	blood
22	chr3:161852200-161852800	Enhancers	Osteobl	bone
23	chr3:161852400-161852600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:161852400-161852800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:161852600-161852800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:161852600-161853600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:161852600-161857800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:161852800-161854200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:161852800-161857800	Weak transcription	Osteobl	bone
30	chr3:161853000-161854400	Enhancers	Dnd41	blood
31	chr3:161853800-161854400	Enhancers	Fetal Heart	heart
32	chr3:161854400-161855800	Weak transcription	Fetal Heart	heart
33	chr3:161855800-161857000	Enhancers	Fetal Heart	heart
34	chr3:161856200-161856800	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:161856200-161858200	Enhancers	Colon Smooth Muscle	Colon
36	chr3:161856400-161856600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:161856400-161856600	Enhancers	Aorta	Aorta
38	chr3:161856600-161857400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:161857400-161857600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:161857400-161861400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:161857600-161858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:161857600-161858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:161857600-161862200	Enhancers	HSMM	muscle
44	chr3:161857600-161862400	Enhancers	NHDF-Ad	bronchial
45	chr3:161857800-161858000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:161857800-161858200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:161857800-161858600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:161857800-161861600	Enhancers	Osteobl	bone
49	chr3:161858000-161858800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:161858000-161861200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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