Variant report

Variant	nsv525096
Chromosome Location	chr3:22057218-22176581
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22130623..22131453-chr3:22928892..22930144,3	K562	blood:
2	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
3	chr3:22130685..22131408-chr3:22159081..22159858,3	MCF-7	breast:
4	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
5	chr3:22051906..22054873-chr3:22056499..22059265,2	K562	blood:
6	chr3:21794398..21795153-chr3:22159350..22159975,2	MCF-7	breast:
7	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
8	chr3:22130650..22131348-chr3:22159010..22159875,2	MCF-7	breast:
9	chr3:22056493..22058211-chr3:22060114..22061974,2	K562	blood:
10	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
11	chr3:22042480..22044020-chr3:22057123..22059814,2	K562	blood:
12	chr3:22130685..22131408-chr3:22159081..22159858,3	MCF-7	breast:
13	chr3:22056493..22058211-chr3:22060114..22061974,2	K562	blood:
14	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
15	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
16	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
17	chr3:22130650..22131348-chr3:22159010..22159875,2	MCF-7	breast:
18	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
19	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
20	chr3:20381603..20382455-chr3:22159036..22159808,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SGOL1-3	chr3:22175074-22175484	NONHSAT088653
2	lnc-SGOL1-3	chr3:22175811-22175883	NONHSAT088653

No data

Extended variants
information (count: 2410 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2410 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs259432	chr3:22057218-22057219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539285048	chr3:22057233-22057234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13082428	chr3:22057241-22057242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566613816	chr3:22057242-22057243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116242301	chr3:22057250-22057251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7620894	chr3:22057256-22057257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113830974	chr3:22057259-22057260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373950752	chr3:22057272-22057273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573703054	chr3:22057281-22057282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544206223	chr3:22057288-22057289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575965536	chr3:22057306-22057307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149118422	chr3:22057334-22057335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77999340	chr3:22057359-22057360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9990206	chr3:22057366-22057367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369935429	chr3:22057391-22057392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2336525	chr3:22057397-22057398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543139551	chr3:22057411-22057412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368454310	chr3:22057412-22057413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9989964	chr3:22057459-22057460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558604770	chr3:22057474-22057475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189464944	chr3:22057476-22057477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549753060	chr3:22057494-22057495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144941735	chr3:22057495-22057496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569140943	chr3:22057497-22057498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75418973	chr3:22057529-22057530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551610728	chr3:22057567-22057568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566562231	chr3:22057581-22057582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79690254	chr3:22057672-22057673	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555200694	chr3:22057690-22057691	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs193171275	chr3:22057698-22057699	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111379380	chr3:22057704-22057705	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537881952	chr3:22057714-22057715	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556194472	chr3:22057720-22057721	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28398983	chr3:22057739-22057740	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538975578	chr3:22057745-22057746	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554413544	chr3:22057758-22057759	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375127506	chr3:22057777-22057778	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572578938	chr3:22057783-22057784	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543188852	chr3:22057787-22057788	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs259431	chr3:22057800-22057801	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576122707	chr3:22057804-22057805	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs1383091	chr3:22057813-22057814	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs13083345	chr3:22057816-22057817	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532502263	chr3:22057828-22057829	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28638460	chr3:22057832-22057833	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79871181	chr3:22057846-22057847	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575100699	chr3:22057851-22057852	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185307759	chr3:22057874-22057875	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567418522	chr3:22057885-22057886	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188854449	chr3:22057886-22057887	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22057000-22058000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:22057200-22057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:22057200-22057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:22057600-22058200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:22057600-22058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:22057600-22058400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr3:22057800-22058200	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr3:22058200-22058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:22060200-22060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:22067800-22068600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:22072400-22072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:22079800-22081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:22089400-22089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:22106800-22107000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:22129800-22130200	Enhancers	Fetal Lung	lung
20	chr3:22129800-22130800	Enhancers	Colon Smooth Muscle	Colon
21	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:22130600-22130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:22130800-22131000	Active TSS	Hela-S3	cervix
24	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:22130800-22131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:22130800-22131200	Enhancers	Adipose Nuclei	Adipose
27	chr3:22130800-22132400	Enhancers	Liver	Liver
28	chr3:22131000-22131200	Enhancers	Pancreas	Pancrea
29	chr3:22131000-22131200	Flanking Active TSS	Hela-S3	cervix
30	chr3:22131200-22133000	Enhancers	Hela-S3	cervix
31	chr3:22132800-22133200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:22133200-22133800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr3:22135000-22135400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:22138200-22139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:22139000-22139800	Enhancers	Hela-S3	cervix
37	chr3:22139600-22139800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:22142800-22144000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:22142800-22144000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr3:22143400-22144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:22144000-22146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:22145600-22147000	Enhancers	Hela-S3	cervix
45	chr3:22147000-22147400	Flanking Active TSS	Hela-S3	cervix
46	chr3:22147000-22147800	Enhancers	Liver	Liver
47	chr3:22147400-22147600	Enhancers	Hela-S3	cervix
48	chr3:22147600-22148600	Flanking Active TSS	Hela-S3	cervix
49	chr3:22147800-22148200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:22147800-22148400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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