Variant report

Variant	nsv604318
Chromosome Location	chr6:102303080-102346746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:102332291..102334019-chr6:102343556..102346119,2	MCF-7	breast:
2	chr6:102312465..102314279-chr6:102350590..102352223,2	K562	blood:
3	chr6:102332291..102334019-chr6:102343556..102346119,2	MCF-7	breast:
4	chr6:102304730..102306857-chr6:102309249..102312127,2	MCF-7	breast:
5	chr6:102304730..102306857-chr6:102309249..102312127,2	MCF-7	breast:

Extended variants
information (count: 395 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372488359	chr6:102323823-102323824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531136547	chr6:102323829-102323830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78645512	chr6:102323853-102323854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567414324	chr6:102323854-102323855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551998664	chr6:102323872-102323873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528062820	chr6:102323878-102323879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545250019	chr6:102323882-102323883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202203413	chr6:102323884-102323885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62419301	chr6:102323885-102323886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184994256	chr6:102323887-102323888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386408076	chr6:102323894-102323895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397729005	chr6:102323907-102323908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571427506	chr6:102323916-102323917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538894407	chr6:102323937-102323938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556849785	chr6:102323952-102323953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1610029	chr6:102323971-102323972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536091349	chr6:102324013-102324014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555433720	chr6:102324025-102324026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574113218	chr6:102324109-102324110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541046072	chr6:102324130-102324131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553304393	chr6:102324135-102324136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1538792	chr6:102324137-102324138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189846932	chr6:102324138-102324139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73761455	chr6:102324178-102324179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12660708	chr6:102324179-102324180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73496632	chr6:102324211-102324212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543282109	chr6:102324314-102324315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75200771	chr6:102324347-102324348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368176541	chr6:102324359-102324360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138440119	chr6:102324360-102324361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77802114	chr6:102324361-102324362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76162817	chr6:102324362-102324363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2791841	chr6:102324363-102324364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139588011	chr6:102324365-102324366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200359260	chr6:102324367-102324368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34929195	chr6:102324391-102324392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34389808	chr6:102324393-102324394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34014105	chr6:102324396-102324397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374783154	chr6:102324406-102324407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546397311	chr6:102324418-102324419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571185533	chr6:102324487-102324488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554895585	chr6:102324519-102324520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532017673	chr6:102324568-102324569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371753369	chr6:102324639-102324640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550460707	chr6:102324641-102324642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553684641	chr6:102324724-102324725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1610028	chr6:102324791-102324792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146619405	chr6:102324801-102324802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73496635	chr6:102324809-102324810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550806382	chr6:102324862-102324863	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102323800-102324800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:102323800-102325200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:102324200-102324800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:102324200-102324800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:102324400-102324600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:102324400-102324800	Enhancers	Brain Germinal Matrix	brain
7	chr6:102326200-102327000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:102326600-102327000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:102326600-102327000	Enhancers	Fetal Heart	heart
10	chr6:102326600-102327200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:102326600-102327200	Active TSS	Ovary	ovary
12	chr6:102327000-102327200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:102327000-102327400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:102327000-102331600	Weak transcription	Fetal Heart	heart
15	chr6:102327200-102327600	Enhancers	GM12878-XiMat	blood
16	chr6:102327200-102331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:102327400-102327800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:102327400-102327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:102327400-102328200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:102327800-102328000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:102327800-102328600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:102331400-102332000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:102331400-102332000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:102331400-102332000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:102331400-102333200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:102331600-102332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:102331600-102332400	Enhancers	Fetal Heart	heart
28	chr6:102332000-102333000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:102333000-102333200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:102335400-102335800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:102340000-102340400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:102345600-102346800	Enhancers	HUES48 Cell Line	embryonic stem cell

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