Variant report

Variant	nsv463996
Chromosome Location	chr6:102571444-102603013
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
2	chr6:102594665..102597425-chr6:102597707..102599339,2	MCF-7	breast:
3	chr6:102571736..102574356-chr6:102583811..102586926,3	K562	blood:
4	chr6:102594665..102597425-chr6:102597707..102599339,2	MCF-7	breast:
5	chr6:102569145..102571791-chr6:102574229..102575887,2	K562	blood:
6	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
7	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
8	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
9	chr6:102582072..102584846-chr6:102585321..102586983,2	MCF-7	breast:
10	chr6:102582072..102584846-chr6:102585321..102586983,2	MCF-7	breast:
11	chr6:102569145..102571791-chr6:102574229..102575887,2	K562	blood:
12	chr6:102571736..102574356-chr6:102583811..102586926,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASCC3-1	chr6:102575603-102575865	XLOC_005791
2	lnc-ASCC3-1	chr6:102580356-102580400	XLOC_005791

No data

Extended variants
information (count: 200 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185911853	chr6:102573885-102573886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146888978	chr6:102573910-102573911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189171254	chr6:102573919-102573920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139754400	chr6:102574001-102574002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77509398	chr6:102574027-102574028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377438673	chr6:102574072-102574073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372550067	chr6:102574103-102574104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182575258	chr6:102574123-102574124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570026898	chr6:102574132-102574133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375604045	chr6:102574197-102574198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146534104	chr6:102574232-102574233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17062861	chr6:102574249-102574250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567964999	chr6:102574309-102574310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535388070	chr6:102574335-102574336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187139209	chr6:102574372-102574373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192002632	chr6:102574392-102574393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62421276	chr6:102574491-102574492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556436209	chr6:102574495-102574496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80251170	chr6:102574629-102574630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182786620	chr6:102574640-102574641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185538314	chr6:102574643-102574644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201310271	chr6:102574668-102574669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189947911	chr6:102574791-102574792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141304553	chr6:102574825-102574826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575205814	chr6:102574917-102574918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372060798	chr6:102574921-102574922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542216684	chr6:102574956-102574957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10616448	chr6:102574964-102574965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375385589	chr6:102574969-102574970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560595352	chr6:102574997-102574998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6937643	chr6:102575003-102575004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150211102	chr6:102575036-102575037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145748576	chr6:102575037-102575038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148885236	chr6:102575039-102575040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116383521	chr6:102575060-102575061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182214716	chr6:102575082-102575083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530981129	chr6:102575126-102575127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549496722	chr6:102575230-102575231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9485602	chr6:102575237-102575238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9485603	chr6:102575257-102575258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547294199	chr6:102575275-102575276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571813923	chr6:102575297-102575298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143545171	chr6:102575306-102575307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532839037	chr6:102575311-102575312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546134191	chr6:102575314-102575315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368102520	chr6:102575323-102575324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188050090	chr6:102575325-102575326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73502531	chr6:102575335-102575336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192276864	chr6:102575351-102575352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554230957	chr6:102575372-102575373	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102573800-102574200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:102573800-102575000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:102574000-102574400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:102574000-102575400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:102574000-102575600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:102574000-102575600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:102574400-102574800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:102574400-102575000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:102583600-102584000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:102596200-102596600	Enhancers	Brain Germinal Matrix	brain
11	chr6:102596600-102597800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:102597800-102598000	Enhancers	Brain Germinal Matrix	brain
13	chr6:102601600-102602000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:102602000-102602600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:102602000-102602600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:102602000-102602800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:102602600-102603000	Active TSS	Skeletal Muscle Female	skeletal muscle

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