Variant report

Variant	nsv592205
Chromosome Location	chr3:162217994-162263832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162236582..162237488-chr4:38505086..38506008,2	MCF-7	breast:
2	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
3	chr3:162248022..162250123-chr3:162255012..162257585,2	MCF-7	breast:
4	chr3:162247272..162249136-chr3:162250613..162253202,3	MCF-7	breast:
5	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
6	chr3:162248022..162250123-chr3:162255012..162257585,2	MCF-7	breast:
7	chr3:162247272..162249136-chr3:162250613..162253202,3	MCF-7	breast:

Extended variants
information (count: 895 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537360501	chr3:162224885-162224886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550553093	chr3:162224911-162224912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553882530	chr3:162224914-162224915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1478154	chr3:162224936-162224937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114839527	chr3:162224937-162224938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553227762	chr3:162224941-162224942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555853588	chr3:162224990-162224991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573303454	chr3:162224997-162224998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112688282	chr3:162225024-162225025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554813012	chr3:162225089-162225090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574774413	chr3:162225090-162225091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543785202	chr3:162225137-162225138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563271277	chr3:162225141-162225142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6441508	chr3:162225155-162225156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560644984	chr3:162225203-162225204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540080586	chr3:162225218-162225219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545797875	chr3:162225243-162225244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564083986	chr3:162225251-162225252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559153361	chr3:162225276-162225277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35564383	chr3:162225291-162225292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369328617	chr3:162225395-162225396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528189991	chr3:162225431-162225432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372972930	chr3:162225567-162225568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186092580	chr3:162225572-162225573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116756215	chr3:162225573-162225574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79574671	chr3:162225600-162225601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550892282	chr3:162225630-162225631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567988063	chr3:162225660-162225661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73025308	chr3:162225665-162225666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535488529	chr3:162225674-162225675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535686931	chr3:162225695-162225696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140712772	chr3:162225754-162225755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370831960	chr3:162225758-162225759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566810974	chr3:162225806-162225807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554222867	chr3:162225808-162225809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200403293	chr3:162225809-162225810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574168181	chr3:162225835-162225836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539956906	chr3:162225840-162225841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574712378	chr3:162225918-162225919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189243564	chr3:162225924-162225925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567062557	chr3:162225927-162225928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11401248	chr3:162225928-162225929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397966726	chr3:162225937-162225938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181966893	chr3:162225968-162225969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534902247	chr3:162232602-162232603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554874528	chr3:162232612-162232613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10513585	chr3:162232626-162232627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543010416	chr3:162232656-162232657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556956885	chr3:162232695-162232696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569015701	chr3:162232781-162232782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162224800-162226000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:162225000-162225800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:162225400-162225800	Enhancers	HSMM	muscle
4	chr3:162232600-162233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:162235200-162236000	Enhancers	Dnd41	blood
6	chr3:162236000-162236600	Genic enhancers	Dnd41	blood
7	chr3:162236600-162236800	Flanking Active TSS	Dnd41	blood
8	chr3:162236800-162237600	Enhancers	Dnd41	blood
9	chr3:162237600-162237800	Genic enhancers	Dnd41	blood
10	chr3:162237800-162248200	Weak transcription	Dnd41	blood
11	chr3:162238600-162245600	Weak transcription	Aorta	Aorta
12	chr3:162240800-162241200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:162240800-162241200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:162240800-162241400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:162240800-162241600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:162240800-162241800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:162241000-162241600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:162241200-162244200	Enhancers	HSMM	muscle
19	chr3:162241400-162244200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:162241800-162243400	Enhancers	HSMMtube	muscle
21	chr3:162241800-162244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:162242000-162244000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:162242000-162244000	Enhancers	NHDF-Ad	bronchial
24	chr3:162242400-162243400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:162242400-162243400	Enhancers	Osteobl	bone
26	chr3:162242400-162243800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:162242400-162243800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:162242400-162243800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:162242600-162243400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:162242800-162243400	Enhancers	Fetal Muscle Leg	muscle
31	chr3:162242800-162243800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:162243000-162243400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:162243000-162243400	Enhancers	Adipose Nuclei	Adipose
34	chr3:162243000-162243400	Enhancers	Psoas Muscle	Psoas
35	chr3:162243200-162243600	Enhancers	NH-A	brain
36	chr3:162243200-162243800	Enhancers	Fetal Stomach	stomach
37	chr3:162243200-162243800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:162243400-162246400	Weak transcription	Psoas Muscle	Psoas
39	chr3:162244200-162246400	Weak transcription	HSMM	muscle
40	chr3:162246400-162246600	Enhancers	Psoas Muscle	Psoas
41	chr3:162248200-162248800	ZNF genes & repeats	Dnd41	blood
42	chr3:162248800-162251200	Weak transcription	Dnd41	blood
43	chr3:162251200-162251800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:162251200-162251800	Enhancers	Dnd41	blood
45	chr3:162251200-162253400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:162251800-162257400	Weak transcription	Dnd41	blood
47	chr3:162256400-162256800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:162256600-162257200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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