Variant report

Variant	nsv525542
Chromosome Location	chr6:71589509-71599887
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:70931382..70931981-chr6:71593939..71594756,2	MCF-7	breast:
2	chr6:71552964..71553967-chr6:71593795..71595014,5	MCF-7	breast:
3	chr6:71591348..71594063-chr6:71596399..71599192,2	K562	blood:
4	chr6:71596480..71598163-chr6:71613473..71615204,2	K562	blood:
5	chr6:71256654..71257504-chr6:71593787..71594712,5	MCF-7	breast:
6	chr6:71593768..71598553-chr6:71600213..71604181,5	K562	blood:
7	chr6:71422116..71424990-chr6:71593570..71595657,2	MCF-7	breast:
8	chr6:71081350..71081923-chr6:71593775..71594667,2	K562	blood:
9	chr6:71594169..71594842-chr6:71665262..71666233,2	MCF-7	breast:
10	chr6:71583869..71586596-chr6:71587382..71589996,2	K562	blood:
11	chr6:71230209..71230795-chr6:71593852..71594838,2	MCF-7	breast:
12	chr6:71556618..71557509-chr6:71593792..71594755,2	K562	blood:
13	chr6:71594143..71594787-chr6:71662346..71663077,2	K562	blood:
14	chr6:71415933..71416670-chr6:71595083..71595592,2	K562	blood:
15	chr6:71416020..71416980-chr6:71593572..71595009,9	K562	blood:
16	chr6:71591348..71594063-chr6:71596399..71599192,2	K562	blood:
17	chr6:71415951..71417425-chr6:71593807..71595048,6	MCF-7	breast:

No data

Extended variants
information (count: 428 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2347625	chr6:71589509-71589510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9446303	chr6:71589577-71589578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569601441	chr6:71589600-71589601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9455240	chr6:71589601-71589602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs117523656	chr6:71589621-71589622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537474752	chr6:71589649-71589650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562710724	chr6:71589682-71589683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529888382	chr6:71589694-71589695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114593932	chr6:71589718-71589719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13206592	chr6:71589776-71589777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549481628	chr6:71589777-71589778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13220468	chr6:71589786-71589787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573615103	chr6:71589829-71589830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371407922	chr6:71589859-71589860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374279074	chr6:71589862-71589863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566797745	chr6:71589893-71589894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139337331	chr6:71589942-71589943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534166192	chr6:71590007-71590008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368670443	chr6:71590051-71590052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552617476	chr6:71590068-71590069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7772468	chr6:71590181-71590182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538342093	chr6:71590192-71590193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150032833	chr6:71590210-71590211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146648636	chr6:71590219-71590220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187510218	chr6:71590234-71590235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554022573	chr6:71590237-71590238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140169287	chr6:71590256-71590257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539809202	chr6:71590276-71590277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564541105	chr6:71590320-71590321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576821549	chr6:71590341-71590342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372247659	chr6:71590357-71590358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550766676	chr6:71590358-71590359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144005985	chr6:71590435-71590436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534346609	chr6:71590439-71590440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554417282	chr6:71590443-71590444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375016521	chr6:71590454-71590455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529875031	chr6:71590461-71590462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542076960	chr6:71590464-71590465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560452053	chr6:71590493-71590494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527603837	chr6:71590513-71590514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574410223	chr6:71590517-71590518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552560904	chr6:71590544-71590545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543174913	chr6:71590573-71590574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531652040	chr6:71590622-71590623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191113933	chr6:71590624-71590625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568489503	chr6:71590648-71590649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183376401	chr6:71590765-71590766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566323647	chr6:71590783-71590784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188071905	chr6:71590826-71590827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192593247	chr6:71590849-71590850	Weak transcription	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:50 , 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	chr6:71589400-71590000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:71590000-71593600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:71592400-71592600	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:71593400-71593800	Enhancers	HepG2	liver
7	chr6:71593600-71596400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:71593800-71594200	Active TSS	HepG2	liver
9	chr6:71593800-71594800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:71593800-71595800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:71593800-71596200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:71594000-71594200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:71594000-71594400	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:71594000-71594400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:71594000-71595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:71594000-71596400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:71594200-71594600	Enhancers	HepG2	liver
18	chr6:71594200-71596000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:71594400-71594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:71594400-71594600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:71594400-71594600	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:71594400-71595400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:71594400-71595800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:71594400-71596200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:71594600-71595000	Bivalent Enhancer	HepG2	liver
26	chr6:71594600-71595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:71594600-71595400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:71594600-71595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:71594600-71595600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:71594800-71595400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:71595400-71595800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:71595400-71595800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:71595400-71596000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:71595400-71596000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:71595600-71596000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:71595800-71596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:71595800-71596400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:71595800-71597200	Enhancers	Fetal Muscle Leg	muscle
39	chr6:71595800-71597800	Enhancers	HSMMtube	muscle
40	chr6:71596000-71598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:71596200-71596800	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:71596200-71596800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:71596200-71596800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:71596200-71597600	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:71596400-71602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:71597200-71597600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:71597600-71597800	Enhancers	Fetal Muscle Leg	muscle
48	chr6:71597800-71598800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:71598200-71598400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:71598800-71599000	Enhancers	Fetal Muscle Leg	muscle

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