Variant report

Variant	esv2762612
Chromosome Location	chr6:102564066-102598244
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	chr6:102571736..102574356-chr6:102583811..102586926,3	K562	blood:
2	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
3	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
4	chr6:102569145..102571853-chr6:102574170..102575887,3	K562	blood:
5	chr6:102594665..102597425-chr6:102597707..102599339,2	MCF-7	breast:
6	chr6:102594665..102597425-chr6:102597707..102599339,2	MCF-7	breast:
7	chr6:102569145..102571791-chr6:102574229..102575887,2	K562	blood:
8	chr6:102582072..102584846-chr6:102585321..102586983,2	MCF-7	breast:
9	chr6:102569145..102571791-chr6:102574229..102575887,2	K562	blood:
10	chr6:102572254..102574562-chr6:102580095..102582205,2	MCF-7	breast:
11	chr6:102571736..102574356-chr6:102583811..102586926,3	K562	blood:
12	chr6:102582072..102584846-chr6:102585321..102586983,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 158 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs116685659	chr6:102566205-102566206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113643429	chr6:102566273-102566274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71748073	chr6:102566278-102566279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373795450	chr6:102566285-102566286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145677114	chr6:102566365-102566366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568920119	chr6:102566380-102566381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs436574	chr6:102566399-102566400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186804810	chr6:102566426-102566427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555576763	chr6:102566497-102566498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377226	chr6:102566512-102566513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111483372	chr6:102566525-102566526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540580712	chr6:102566546-102566547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74730188	chr6:102566551-102566552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138296818	chr6:102566562-102566563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553723774	chr6:102566617-102566618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs417526	chr6:102566640-102566641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575462742	chr6:102566676-102566677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539243804	chr6:102566705-102566706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543115306	chr6:102566709-102566710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557481015	chr6:102566750-102566751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560191685	chr6:102566790-102566791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185911853	chr6:102573885-102573886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146888978	chr6:102573910-102573911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189171254	chr6:102573919-102573920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139754400	chr6:102574001-102574002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77509398	chr6:102574027-102574028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377438673	chr6:102574072-102574073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372550067	chr6:102574103-102574104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182575258	chr6:102574123-102574124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570026898	chr6:102574132-102574133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375604045	chr6:102574197-102574198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146534104	chr6:102574232-102574233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17062861	chr6:102574249-102574250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567964999	chr6:102574309-102574310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535388070	chr6:102574335-102574336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187139209	chr6:102574372-102574373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192002632	chr6:102574392-102574393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62421276	chr6:102574491-102574492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556436209	chr6:102574495-102574496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80251170	chr6:102574629-102574630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182786620	chr6:102574640-102574641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185538314	chr6:102574643-102574644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201310271	chr6:102574668-102574669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189947911	chr6:102574791-102574792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141304553	chr6:102574825-102574826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575205814	chr6:102574917-102574918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372060798	chr6:102574921-102574922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542216684	chr6:102574956-102574957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10616448	chr6:102574964-102574965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375385589	chr6:102574969-102574970	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102566200-102566800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:102573800-102574200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:102573800-102575000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:102574000-102574400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:102574000-102575400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:102574000-102575600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:102574000-102575600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:102574400-102574800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:102574400-102575000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:102583600-102584000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:102596200-102596600	Enhancers	Brain Germinal Matrix	brain
12	chr6:102596600-102597800	Weak transcription	Brain Germinal Matrix	brain
13	chr6:102597800-102598000	Enhancers	Brain Germinal Matrix	brain

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