Variant report

Variant	nsv981091
Chromosome Location	chr6:166892623-166901005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166892327..166894616-chr6:166897228..166898880,2	K562	blood:
2	chr6:166892327..166894616-chr6:166897228..166898880,2	K562	blood:
3	chr6:166893774..166896880-chr6:166897771..166899718,3	MCF-7	breast:
4	chr6:166893774..166896880-chr6:166897771..166899718,3	MCF-7	breast:

Extended variants
information (count: 378 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:378 , 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	rs532402409	chr6:166892649-166892650	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540952237	chr6:166892651-166892652	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111855202	chr6:166892652-166892653	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139162564	chr6:166892696-166892697	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116695296	chr6:166892700-166892701	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6456085	chr6:166892724-166892725	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530522250	chr6:166892747-166892748	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552707816	chr6:166892749-166892750	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570970487	chr6:166892762-166892763	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535252533	chr6:166892776-166892777	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11332669	chr6:166892785-166892786	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6909920	chr6:166892798-166892799	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368335578	chr6:166892803-166892804	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568813523	chr6:166892820-166892821	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535811073	chr6:166892850-166892851	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6926193	chr6:166892866-166892867	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575782971	chr6:166892885-166892886	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546335793	chr6:166892888-166892889	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558267840	chr6:166892906-166892907	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576940550	chr6:166892921-166892922	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541267213	chr6:166892927-166892928	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559377826	chr6:166892928-166892929	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530841008	chr6:166892945-166892946	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6456086	chr6:166892969-166892970	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541377688	chr6:166892974-166892975	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562966060	chr6:166892990-166892991	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150827152	chr6:166893133-166893134	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187032124	chr6:166893220-166893221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191728531	chr6:166893238-166893239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6926800	chr6:166893239-166893240	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117503452	chr6:166893245-166893246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138115319	chr6:166893248-166893249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71554928	chr6:166893321-166893322	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112255044	chr6:166893322-166893323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs742111	chr6:166893323-166893324	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4709117	chr6:166893339-166893340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4709118	chr6:166893344-166893345	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149561174	chr6:166893348-166893349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557968176	chr6:166893362-166893363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573326299	chr6:166893430-166893431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181537152	chr6:166893432-166893433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374385044	chr6:166893450-166893451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139392381	chr6:166893459-166893460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373900011	chr6:166893490-166893491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541734660	chr6:166893533-166893534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563275601	chr6:166893535-166893536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574870355	chr6:166893550-166893551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545828634	chr6:166893575-166893576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563932996	chr6:166893595-166893596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563987121	chr6:166893597-166893598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166862400-166900600	Weak transcription	Primary T cells from cord blood	blood
4	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:166863600-166900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:166863600-166902000	Weak transcription	Small Intestine	intestine
7	chr6:166864800-166899800	Weak transcription	Esophagus	oesophagus
8	chr6:166867400-166892800	Weak transcription	Fetal Brain Male	brain
9	chr6:166867600-166900000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:166870400-166898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:166871000-166901400	Weak transcription	Stomach Mucosa	stomach
12	chr6:166872000-166900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:166872200-166900400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:166873000-166902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:166874800-166903000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:166875000-166900800	Weak transcription	Fetal Heart	heart
17	chr6:166875800-166894000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:166876000-166901400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:166877200-166904400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:166877200-166908800	Weak transcription	Colonic Mucosa	Colon
21	chr6:166878200-166902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:166879000-166900600	Weak transcription	Primary B cells from cord blood	blood
23	chr6:166880200-166900000	Weak transcription	Fetal Intestine Large	intestine
24	chr6:166880400-166900000	Weak transcription	Fetal Lung	lung
25	chr6:166880600-166895800	Weak transcription	NHDF-Ad	bronchial
26	chr6:166880600-166899800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:166880800-166893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:166880800-166904400	Weak transcription	NH-A	brain
29	chr6:166881400-166904400	Weak transcription	Fetal Kidney	kidney
30	chr6:166883000-166893000	Weak transcription	Osteobl	bone
31	chr6:166883400-166898000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:166883400-166901400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:166883600-166898800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:166883800-166895200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:166883800-166898800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:166883800-166900400	Weak transcription	HUVEC	blood vessel
37	chr6:166884600-166911400	Weak transcription	HMEC	breast
38	chr6:166886600-166901400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:166887000-166894000	Strong transcription	Lung	lung
40	chr6:166887800-166893000	Strong transcription	Gastric	stomach
41	chr6:166887800-166894200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:166888200-166897400	Weak transcription	HSMM	muscle
43	chr6:166888200-166904400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:166888400-166900200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:166888600-166894000	Strong transcription	Fetal Stomach	stomach
46	chr6:166889000-166893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:166889000-166897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:166889000-166899800	Weak transcription	Thymus	Thymus
49	chr6:166889600-166893800	Strong transcription	Pancreas	Pancrea
50	chr6:166889800-166893600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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