Variant report

Variant	nsv823726
Chromosome Location	chr6:71593908-71594758
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:71081350..71081923-chr6:71593775..71594667,2	K562	blood:
2	chr6:70931382..70931981-chr6:71593939..71594756,2	MCF-7	breast:
3	chr6:71422116..71424990-chr6:71593570..71595657,2	MCF-7	breast:
4	chr6:71552964..71553967-chr6:71593795..71595014,5	MCF-7	breast:
5	chr6:71556618..71557509-chr6:71593792..71594755,2	K562	blood:
6	chr6:71594169..71594842-chr6:71665262..71666233,2	MCF-7	breast:
7	chr6:71415951..71417425-chr6:71593807..71595048,6	MCF-7	breast:
8	chr6:71230209..71230795-chr6:71593852..71594838,2	MCF-7	breast:
9	chr6:71594143..71594787-chr6:71662346..71663077,2	K562	blood:
10	chr6:71591348..71594063-chr6:71596399..71599192,2	K562	blood:
11	chr6:71593768..71598553-chr6:71600213..71604181,5	K562	blood:
12	chr6:71416020..71416980-chr6:71593572..71595009,9	K562	blood:
13	chr6:71256654..71257504-chr6:71593787..71594712,5	MCF-7	breast:

No data

Extended variants
information (count: 25 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561469548	chr6:71593919-71593920	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528755327	chr6:71593966-71593967	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540920378	chr6:71594132-71594133	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs180670610	chr6:71594136-71594137	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185255171	chr6:71594165-71594166	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551372384	chr6:71594177-71594178	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555574	chr6:71594210-71594211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368601654	chr6:71594223-71594224	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs548724638	chr6:71594228-71594229	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs567112387	chr6:71594245-71594246	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs534551167	chr6:71594253-71594254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs190852121	chr6:71594283-71594284	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571979916	chr6:71594419-71594420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538623807	chr6:71594477-71594478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557349751	chr6:71594503-71594504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181988040	chr6:71594506-71594507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536754618	chr6:71594510-71594511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555142653	chr6:71594562-71594563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145527840	chr6:71594563-71594564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545606774	chr6:71594582-71594583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563895095	chr6:71594626-71594627	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs540863075	chr6:71594657-71594658	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs565543903	chr6:71594671-71594672	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs577488525	chr6:71594721-71594722	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531438932	chr6:71594751-71594752	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71584400-71595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:71584800-71594200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:71593600-71596400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:71593800-71594200	Active TSS	HepG2	liver
5	chr6:71593800-71594800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:71593800-71595800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:71593800-71596200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:71594000-71594200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:71594000-71594400	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:71594000-71594400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr6:71594000-71595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:71594000-71596400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:71594200-71594600	Enhancers	HepG2	liver
14	chr6:71594200-71596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:71594400-71594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:71594400-71594600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:71594400-71594600	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:71594400-71595400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:71594400-71595800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:71594400-71596200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:71594600-71595000	Bivalent Enhancer	HepG2	liver
22	chr6:71594600-71595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:71594600-71595400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:71594600-71595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:71594600-71595600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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