Variant report

Variant	nsv3784
Chromosome Location	chr3:43176397-43221254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43203788..43204378-chr3:43419361..43419980,2	MCF-7	breast:
2	chr3:43217045..43218601-chr3:43221809..43224778,2	K562	blood:
3	chr3:43197539..43200261-chr3:43200797..43202651,2	MCF-7	breast:
4	chr3:43002721..43003300-chr3:43196939..43197937,2	MCF-7	breast:
5	chr3:43194169..43198887-chr3:43199731..43204970,6	K562	blood:
6	chr3:43185520..43188169-chr3:43190892..43193129,2	K562	blood:
7	chr3:43203368..43203905-chr3:43256948..43257808,2	MCF-7	breast:
8	chr3:43186669..43188659-chr3:43190561..43193129,2	K562	blood:
9	chr3:43191751..43194018-chr3:43196227..43197912,2	K562	blood:
10	chr3:43220885..43223074-chr3:43225156..43226935,2	K562	blood:
11	chr3:43200980..43202679-chr3:43805649..43807576,2	K562	blood:
12	chr3:43203866..43206783-chr3:43206905..43208456,2	K562	blood:
13	chr3:43186669..43188659-chr3:43190561..43193129,2	K562	blood:
14	chr3:43002914..43003748-chr3:43196890..43197718,3	K562	blood:
15	chr3:43185520..43188169-chr3:43190892..43193129,2	K562	blood:
16	chr3:43202980..43203994-chr3:43544354..43545379,4	MCF-7	breast:
17	chr3:43146026..43148649-chr3:43173688..43176557,2	K562	blood:
18	chr3:43191751..43194018-chr3:43195988..43197912,3	K562	blood:
19	chr3:43203866..43206783-chr3:43206905..43208456,2	K562	blood:
20	chr3:43191751..43194018-chr3:43196227..43197912,2	K562	blood:
21	chr3:43203530..43204300-chr3:43544277..43545217,2	MCF-7	breast:
22	chr3:43001783..43003382-chr3:43196276..43199083,2	MCF-7	breast:
23	chr3:43162010..43163699-chr3:43192624..43194454,2	K562	blood:
24	chr3:43194169..43198887-chr3:43199731..43204970,6	K562	blood:
25	chr3:43197539..43200261-chr3:43200797..43202651,2	MCF-7	breast:
26	chr3:43191751..43194018-chr3:43195988..43197912,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144647	chromatin interactions

Extended variants
information (count: 1606 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1606 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139733432	chr3:43176400-43176401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571149357	chr3:43176460-43176461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs36079992	chr3:43176464-43176465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143992814	chr3:43176468-43176469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76703920	chr3:43176550-43176551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572398249	chr3:43181001-43181002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541373590	chr3:43181049-43181050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564118976	chr3:43181054-43181055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533397821	chr3:43181113-43181114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374450270	chr3:43181127-43181128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73083260	chr3:43181146-43181147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11719635	chr3:43181148-43181149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549188980	chr3:43181162-43181163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565926937	chr3:43181165-43181166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568753572	chr3:43181186-43181187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528372221	chr3:43181217-43181218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552244305	chr3:43181283-43181284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138487048	chr3:43181284-43181285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181140393	chr3:43181320-43181321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4683359	chr3:43181326-43181327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9876292	chr3:43181382-43181383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537966528	chr3:43181444-43181445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184357405	chr3:43181458-43181459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188935669	chr3:43181491-43181492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574186238	chr3:43181516-43181517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555539147	chr3:43181628-43181629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554672356	chr3:43181632-43181633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541310812	chr3:43181665-43181666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552545297	chr3:43181668-43181669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146145956	chr3:43181669-43181670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543759959	chr3:43181792-43181793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79715678	chr3:43181800-43181801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182018039	chr3:43181815-43181816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139831948	chr3:43181820-43181821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558874005	chr3:43181830-43181831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559570889	chr3:43181831-43181832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528258172	chr3:43181886-43181887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551622261	chr3:43181897-43181898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571474449	chr3:43181914-43181915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577473253	chr3:43181927-43181928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113859259	chr3:43181949-43181950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550542399	chr3:43181961-43181962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556877723	chr3:43181990-43181991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377530017	chr3:43182002-43182003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35250188	chr3:43182011-43182012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567199234	chr3:43182042-43182043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148417377	chr3:43182078-43182079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142621934	chr3:43182083-43182084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147606187	chr3:43182087-43182088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369650436	chr3:43182122-43182123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43181000-43181200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:43181000-43181200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:43181000-43181400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:43181200-43181400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:43181400-43184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:43181400-43184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:43181400-43184200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:43181400-43184200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:43182200-43184000	Weak transcription	Primary T cells from cord blood	blood
10	chr3:43183600-43184400	Enhancers	HepG2	liver
11	chr3:43184000-43184400	Enhancers	Primary T cells from cord blood	blood
12	chr3:43184000-43184400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:43184000-43184400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:43184000-43186600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:43184200-43184400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:43184200-43184400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:43184200-43184400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:43184200-43186600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:43184200-43186800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:43184400-43184800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:43184400-43185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:43184400-43185600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:43184400-43188600	Weak transcription	HepG2	liver
24	chr3:43184800-43186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:43184800-43186800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:43185200-43186600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:43185400-43186800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:43185600-43186600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:43185800-43186200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:43185800-43186600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:43186000-43186200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:43186200-43186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:43186200-43186800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:43186200-43186800	Enhancers	K562	blood
35	chr3:43186200-43187000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:43186200-43187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:43186200-43187400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:43186200-43187400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:43186400-43186600	Enhancers	Fetal Muscle Leg	muscle
40	chr3:43186400-43186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:43186400-43186800	Flanking Active TSS	Osteobl	bone
42	chr3:43186400-43187000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr3:43186400-43187200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:43186400-43187400	Enhancers	HUVEC	blood vessel
45	chr3:43186600-43187200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:43186600-43187600	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:43186800-43187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:43186800-43187400	Enhancers	Osteobl	bone
49	chr3:43186800-43187600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:43187000-43187400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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