Variant report

Variant	nsv886458
Chromosome Location	chr6:101623345-101716365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101223675..101224334-chr6:101674492..101675446,2	MCF-7	breast:
2	chr6:101326042..101328536-chr6:101641903..101644507,2	K562	blood:
3	chr6:101223376..101224309-chr6:101674457..101675224,3	MCF-7	breast:

Extended variants
information (count: 705 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539501684	chr6:101626876-101626877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190412710	chr6:101626911-101626912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77048742	chr6:101626914-101626915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151168250	chr6:101626929-101626930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78480886	chr6:101626938-101626939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75976337	chr6:101626949-101626950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142564034	chr6:101626979-101626980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375918900	chr6:101627013-101627014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144790855	chr6:101627035-101627036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549031915	chr6:101627088-101627089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74363904	chr6:101627187-101627188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534864224	chr6:101627204-101627205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553334480	chr6:101627287-101627288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555759549	chr6:101627321-101627322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578187704	chr6:101627346-101627347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538920727	chr6:101627350-101627351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180779073	chr6:101627382-101627383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185437626	chr6:101627386-101627387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74651678	chr6:101627401-101627402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528985500	chr6:101627426-101627427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13210870	chr6:101627443-101627444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13191275	chr6:101627444-101627445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189897938	chr6:101627464-101627465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577123277	chr6:101627477-101627478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10485425	chr6:101627478-101627479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13207706	chr6:101627486-101627487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13192241	chr6:101627493-101627494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200269531	chr6:101627529-101627530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540420245	chr6:101627537-101627538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3905202	chr6:101627540-101627541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183660236	chr6:101627558-101627559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544149087	chr6:101627590-101627591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72950918	chr6:101627617-101627618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530798911	chr6:101627651-101627652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548993443	chr6:101627695-101627696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141807964	chr6:101627715-101627716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567415099	chr6:101627762-101627763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528602132	chr6:101627785-101627786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78537086	chr6:101627806-101627807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189102361	chr6:101627845-101627846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539244592	chr6:101627877-101627878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150405227	chr6:101627895-101627896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569608078	chr6:101627997-101627998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565213033	chr6:101629014-101629015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549098295	chr6:101629032-101629033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532686316	chr6:101629095-101629096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367686744	chr6:101629111-101629112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566074411	chr6:101629112-101629113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113914430	chr6:101629113-101629114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530322949	chr6:101629179-101629180	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101626800-101627400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:101626800-101628000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:101629000-101629400	Enhancers	Ovary	ovary
4	chr6:101636200-101636400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:101643600-101644000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:101643800-101644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:101647200-101647400	Enhancers	Fetal Intestine Large	intestine
8	chr6:101647400-101653800	Weak transcription	Fetal Intestine Large	intestine
9	chr6:101647600-101648400	Enhancers	Fetal Intestine Small	intestine
10	chr6:101648400-101655000	Weak transcription	Fetal Intestine Small	intestine
11	chr6:101651600-101652200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:101652200-101655000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:101653800-101657400	Enhancers	Fetal Intestine Large	intestine
14	chr6:101655000-101655400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr6:101655000-101656000	Enhancers	Fetal Intestine Small	intestine
16	chr6:101655000-101657200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:101655200-101655800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:101655200-101656400	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:101655400-101655800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:101655600-101656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:101655800-101656600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:101656000-101657200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:101657200-101657600	Enhancers	Fetal Intestine Small	intestine
24	chr6:101657400-101657600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:101657600-101658800	Weak transcription	Fetal Intestine Small	intestine
26	chr6:101659200-101659400	Enhancers	Fetal Intestine Small	intestine
27	chr6:101674200-101674800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:101674200-101675200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:101674400-101674800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:101674400-101674800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:101674400-101674800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:101674400-101674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:101674400-101674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:101674400-101675200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:101674400-101675200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr6:101674400-101675200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:101674600-101675000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:101674600-101675200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:101681400-101681800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:101681400-101681800	Enhancers	Fetal Brain Male	brain
41	chr6:101681600-101682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:101689400-101690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:101689600-101690200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:101713400-101715000	Enhancers	Dnd41	blood
45	chr6:101713400-101715400	Enhancers	Primary T cells from cord blood	blood
46	chr6:101714600-101715000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr6:101714600-101715400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:101716200-101716600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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