Variant report

Variant	nsv997515
Chromosome Location	chr3:22560733-22612794
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:22605202..22606238-chr3:22726881..22727802,6	MCF-7	breast:
2	chr3:22605314..22606827-chr3:23001573..23002522,7	MCF-7	breast:
3	chr3:22605331..22605851-chr3:22928978..22929585,2	MCF-7	breast:
4	chr3:22605215..22605962-chr3:22950443..22950968,2	MCF-7	breast:
5	chr3:22606338..22606850-chr3:22713171..22713815,2	MCF-7	breast:
6	chr3:22605258..22606015-chr3:22726589..22727722,7	MCF-7	breast:
7	chr3:22605347..22606025-chr3:22726006..22726863,2	MCF-7	breast:
8	chr3:22605358..22606044-chr3:22713391..22713898,2	MCF-7	breast:
9	chr3:22605268..22606284-chr3:22928941..22929846,5	MCF-7	breast:

No data

Extended variants
information (count: 1549 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546487158	chr3:22566614-22566615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567903083	chr3:22566642-22566643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535405222	chr3:22566650-22566651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4521248	chr3:22566691-22566692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569746731	chr3:22566723-22566724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142921974	chr3:22566740-22566741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557796464	chr3:22566759-22566760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558886320	chr3:22566774-22566775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7616475	chr3:22566823-22566824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541476657	chr3:22566844-22566845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73822632	chr3:22566896-22566897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559718018	chr3:22566898-22566899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146593237	chr3:22566952-22566953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542568697	chr3:22566956-22566957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563956153	chr3:22566982-22566983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532105815	chr3:22566983-22566984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531201992	chr3:22567076-22567077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545483864	chr3:22567173-22567174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564069095	chr3:22567178-22567179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141355320	chr3:22567202-22567203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546669846	chr3:22567229-22567230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374956242	chr3:22567237-22567238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367683655	chr3:22567257-22567258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529036080	chr3:22567258-22567259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182658267	chr3:22567261-22567262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552091695	chr3:22567264-22567265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74916547	chr3:22567277-22567278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1349277	chr3:22567283-22567284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1349278	chr3:22567301-22567302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565840660	chr3:22567331-22567332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535904081	chr3:22567353-22567354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570817974	chr3:22567414-22567415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573131896	chr3:22567418-22567419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369337571	chr3:22567432-22567433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542142240	chr3:22567433-22567434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73822633	chr3:22567462-22567463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553483378	chr3:22567510-22567511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575121183	chr3:22567520-22567521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369767162	chr3:22567530-22567531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188760304	chr3:22567532-22567533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192941267	chr3:22567583-22567584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576017860	chr3:22567587-22567588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555402343	chr3:22567589-22567590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575268342	chr3:22567651-22567652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57552258	chr3:22567692-22567693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76742806	chr3:22567694-22567695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397945200	chr3:22567695-22567696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572774149	chr3:22567717-22567718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140686006	chr3:22567725-22567726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7629546	chr3:22567726-22567727	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22566600-22568000	Enhancers	Fetal Lung	lung
2	chr3:22568000-22568400	Weak transcription	Fetal Lung	lung
3	chr3:22568400-22569400	Enhancers	Fetal Lung	lung
4	chr3:22575600-22575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22576000-22577200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:22576800-22577200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:22577600-22578400	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:22578000-22578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:22578200-22579600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:22578600-22579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:22579600-22580400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:22579800-22581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:22580400-22581000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr3:22581000-22584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:22584800-22585200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:22590800-22591200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:22591200-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:22595000-22595800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:22595800-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:22597000-22598200	Enhancers	Fetal Lung	lung
25	chr3:22597200-22597400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:22597400-22598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:22597400-22598600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:22598400-22599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:22598600-22599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:22599400-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:22599800-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:22605600-22606000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr3:22605800-22606200	Enhancers	HMEC	breast
36	chr3:22606200-22610400	Weak transcription	HMEC	breast
37	chr3:22609800-22610000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:22610200-22611200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:22610400-22610600	Enhancers	HMEC	breast
40	chr3:22610600-22611000	Weak transcription	HMEC	breast
41	chr3:22611000-22611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:22611000-22611400	Enhancers	HepG2	liver
43	chr3:22611000-22611400	Enhancers	HMEC	breast
44	chr3:22611200-22611600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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