Variant report

Variant	nsv1016167
Chromosome Location	chr6:102152010-102198914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:102153395..102155355-chr6:102159822..102161608,2	K562	blood:
2	chr6:102173348..102176230-chr6:102178653..102180675,2	K562	blood:
3	chr6:102198814..102201374-chr6:102217508..102220238,2	K562	blood:
4	chr6:102173348..102176230-chr6:102178653..102180675,2	K562	blood:
5	chr6:102153395..102155355-chr6:102159822..102161608,2	K562	blood:

Extended variants
information (count: 1513 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150899897	chr6:102152038-102152039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531382942	chr6:102152052-102152053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182154787	chr6:102152106-102152107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531450730	chr6:102152129-102152130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545949559	chr6:102152167-102152168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76222991	chr6:102152249-102152250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190574611	chr6:102152251-102152252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548576436	chr6:102152279-102152280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567012643	chr6:102152390-102152391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17336150	chr6:102152402-102152403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138164189	chr6:102152431-102152432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182413073	chr6:102152491-102152492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143830241	chr6:102152557-102152558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536137490	chr6:102152595-102152596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574607550	chr6:102152635-102152636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17062365	chr6:102152680-102152681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547159472	chr6:102152747-102152748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530630823	chr6:102152857-102152858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534850036	chr6:102152899-102152900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553741549	chr6:102152948-102152949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77454321	chr6:102153041-102153042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185606144	chr6:102153051-102153052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77758417	chr6:102153052-102153053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562758147	chr6:102153102-102153103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189625239	chr6:102153179-102153180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183029170	chr6:102153188-102153189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554542744	chr6:102153211-102153212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572063480	chr6:102153232-102153233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562605543	chr6:102153261-102153262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530143512	chr6:102153374-102153375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1415480	chr6:102153416-102153417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111795115	chr6:102153472-102153473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2210967	chr6:102153513-102153514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527724019	chr6:102153543-102153544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552820864	chr6:102153557-102153558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571191593	chr6:102153574-102153575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188744421	chr6:102153576-102153577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531913370	chr6:102153579-102153580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550413737	chr6:102153582-102153583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538274617	chr6:102153583-102153584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554681861	chr6:102153584-102153585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535343273	chr6:102153658-102153659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568125446	chr6:102153668-102153669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1337413	chr6:102153673-102153674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553634449	chr6:102153676-102153677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140772966	chr6:102153772-102153773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539088126	chr6:102153806-102153807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557600289	chr6:102153822-102153823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543569644	chr6:102153862-102153863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142806515	chr6:102153951-102153952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102149400-102158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:102153600-102154000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:102154400-102154800	Enhancers	HMEC	breast
4	chr6:102154400-102154800	Enhancers	NHEK	skin
5	chr6:102154400-102155200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:102154600-102154800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:102154600-102154800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:102154800-102158000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:102154800-102158000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:102155200-102170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:102155800-102156000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:102156000-102157800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:102157000-102157200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:102157200-102158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:102157800-102158000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:102157800-102158200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:102158000-102158200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:102158000-102158200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:102158000-102159000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:102158000-102159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:102158200-102161400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:102158200-102163200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:102158200-102164400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:102159000-102160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:102159200-102159400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:102159400-102159600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:102159400-102159800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:102159400-102160800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:102159600-102159800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:102159600-102162000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:102159800-102160800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:102159800-102160800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:102160800-102161000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:102160800-102164600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:102161000-102161400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:102161200-102161400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:102161400-102162400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:102161400-102163200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:102161400-102164600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:102162000-102164600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:102162000-102164600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:102162400-102163000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:102162400-102163200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:102163000-102163400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr6:102163000-102164200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr6:102163200-102163400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:102163200-102163800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr6:102163200-102163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:102163200-102164000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:102163200-102164200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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