Variant report

Variant	nsv522300
Chromosome Location	chr6:142301227-142316672
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142310160..142310940-chr6:142392407..142393314,2	MCF-7	breast:
2	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
3	chr6:142309853..142311057-chr6:142366249..142367364,12	MCF-7	breast:
4	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
5	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
6	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
7	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
8	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
9	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
10	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
11	chr6:142310081..142310988-chr6:142433318..142434235,4	K562	blood:
12	chr6:142310101..142311090-chr6:142528288..142529452,4	K562	blood:
13	chr6:142310115..142310645-chr6:142364498..142365481,2	MCF-7	breast:
14	chr6:142310166..142311225-chr6:142433178..142434296,3	MCF-7	breast:

No data

Extended variants
information (count: 535 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12216113	chr6:142301831-142301832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567371661	chr6:142301834-142301835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150026686	chr6:142301840-142301841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556269853	chr6:142301850-142301851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549764400	chr6:142301912-142301913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146494018	chr6:142301914-142301915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61214080	chr6:142301915-142301916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79653296	chr6:142301986-142301987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74516590	chr6:142302428-142302429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568015018	chr6:142302456-142302457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182573483	chr6:142302478-142302479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73779897	chr6:142302488-142302489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547329071	chr6:142302538-142302539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56112232	chr6:142302569-142302570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370154639	chr6:142302587-142302588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186893681	chr6:142302589-142302590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536523267	chr6:142302656-142302657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192214534	chr6:142302724-142302725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369010532	chr6:142302736-142302737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184279624	chr6:142302743-142302744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112009717	chr6:142302747-142302748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558823300	chr6:142302755-142302756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1414745	chr6:142302768-142302769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146783767	chr6:142302784-142302785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140465557	chr6:142302826-142302827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572385394	chr6:142302879-142302880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542976353	chr6:142302901-142302902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561144299	chr6:142302908-142302909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545606661	chr6:142302921-142302922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145638633	chr6:142302929-142302930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528871425	chr6:142303014-142303015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543595937	chr6:142303147-142303148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564838557	chr6:142303150-142303151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532187366	chr6:142303221-142303222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570456966	chr6:142303278-142303279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114315109	chr6:142303279-142303280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558891492	chr6:142303289-142303290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377224779	chr6:142303290-142303291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548501663	chr6:142303344-142303345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570002696	chr6:142303355-142303356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537255954	chr6:142303412-142303413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188936096	chr6:142303460-142303461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570876259	chr6:142303467-142303468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151054774	chr6:142303500-142303501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539770061	chr6:142303555-142303556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193248917	chr6:142303612-142303613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574914169	chr6:142303665-142303666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17071309	chr6:142303672-142303673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185382961	chr6:142303673-142303674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575993043	chr6:142303681-142303682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142301800-142302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:142302400-142302600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:142302600-142302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:142302600-142302800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:142302600-142304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:142302800-142310600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:142304600-142304800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:142304800-142305000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:142304800-142306200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:142304800-142316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:142305000-142305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:142305000-142306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:142305600-142305800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:142305600-142306000	Enhancers	Fetal Heart	heart
15	chr6:142305800-142306000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:142305800-142306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:142305800-142306200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:142306000-142306200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:142306000-142307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:142306000-142310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:142306200-142310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:142306200-142310400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:142307600-142308000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:142307800-142308000	Enhancers	Pancreas	Pancrea
25	chr6:142307800-142309000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:142307800-142309200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:142307800-142309800	Enhancers	Liver	Liver
28	chr6:142308000-142310200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:142309000-142309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:142309000-142310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:142309200-142310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:142309200-142310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:142309800-142310600	Flanking Active TSS	Liver	Liver
34	chr6:142310000-142310200	Enhancers	NHDF-Ad	bronchial
35	chr6:142310000-142312200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:142310000-142312200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:142310200-142310400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:142310200-142310600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:142310200-142310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:142310200-142310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:142310200-142311000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:142310200-142311000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:142310200-142311000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:142310200-142311000	Enhancers	HMEC	breast
45	chr6:142310200-142311000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr6:142310200-142311200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:142310200-142311200	Enhancers	HSMM	muscle
48	chr6:142310200-142311600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:142310200-142311800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:142310200-142312200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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