Variant report

Variant	esv3374617
Chromosome Location	chr6:102555308-102581124
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:102569145..102571791-chr6:102574229..102575887,2	K562	blood:
2	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
3	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
4	chr6:102571736..102574356-chr6:102583811..102586926,3	K562	blood:
5	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
6	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
7	chr6:102561781..102562640-chr6:103570762..103571536,2	MCF-7	breast:
8	chr6:102569145..102571791-chr6:102574229..102575887,2	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: 178 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs193012548	chr6:102555349-102555350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185682592	chr6:102555407-102555408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574207338	chr6:102555440-102555441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535488821	chr6:102555458-102555459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553585961	chr6:102555507-102555508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139328653	chr6:102555523-102555524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545464053	chr6:102555548-102555549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564397156	chr6:102555554-102555555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576375102	chr6:102555592-102555593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543657813	chr6:102555624-102555625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561824992	chr6:102555676-102555677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530220531	chr6:102555682-102555683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548709373	chr6:102555684-102555685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560368744	chr6:102555689-102555690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527714775	chr6:102555745-102555746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552261161	chr6:102555752-102555753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570825892	chr6:102555773-102555774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529403403	chr6:102555792-102555793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549451592	chr6:102555837-102555838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549968361	chr6:102555839-102555840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568362962	chr6:102555860-102555861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566185646	chr6:102555882-102555883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535665222	chr6:102555883-102555884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534682766	chr6:102555909-102555910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572022226	chr6:102555968-102555969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190156321	chr6:102555969-102555970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141869299	chr6:102555982-102555983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563692801	chr6:102555987-102555988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558161643	chr6:102555991-102555992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571832643	chr6:102556049-102556050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192098554	chr6:102556074-102556075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369612737	chr6:102556080-102556081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571239115	chr6:102556081-102556082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555695527	chr6:102556090-102556091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150566067	chr6:102556159-102556160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540847851	chr6:102556162-102556163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184277680	chr6:102556164-102556165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139553565	chr6:102556201-102556202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546188169	chr6:102556202-102556203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564094617	chr6:102556216-102556217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531597630	chr6:102556223-102556224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550102841	chr6:102556262-102556263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568397373	chr6:102556270-102556271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188566394	chr6:102556271-102556272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538692105	chr6:102556301-102556302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565780336	chr6:102556326-102556327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537788818	chr6:102556344-102556345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539120738	chr6:102556391-102556392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149713193	chr6:102556398-102556399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180928068	chr6:102556404-102556405	Weak transcription 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102551200-102556200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:102556000-102556600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:102556200-102556400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:102556200-102557000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:102556400-102557000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:102557000-102557200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:102563200-102563600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:102566200-102566800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:102573800-102574200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:102573800-102575000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:102574000-102574400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:102574000-102575400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:102574000-102575600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:102574000-102575600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:102574400-102574800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:102574400-102575000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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