Variant report

Variant	nsv481873
Chromosome Location	chr6:162133846-162641251
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
2	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
3	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
4	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
5	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
6	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
7	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
8	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
9	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
10	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
11	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
12	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
13	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
14	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
15	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
16	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
17	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
18	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
19	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
20	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
21	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
22	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
23	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
24	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
25	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
26	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
27	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
28	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
29	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
30	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
31	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
32	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
33	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
34	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
35	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
36	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
37	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
38	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
39	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
40	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
41	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
42	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
43	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
44	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
45	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
46	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
47	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
48	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
49	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
50	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

No data

Extended variants
information (count: 19750 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:19750 , 50 per page) page: 1 2 3 4 5 6 7 ... 395

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74436108	chr6:162133859-162133860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78423590	chr6:162133878-162133879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539621210	chr6:162133886-162133887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7739689	chr6:162133898-162133899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576513259	chr6:162133916-162133917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143032454	chr6:162133922-162133923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561171383	chr6:162133950-162133951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530082463	chr6:162133955-162133956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376812194	chr6:162133970-162133971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549043264	chr6:162133991-162133992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543991931	chr6:162134039-162134040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187214134	chr6:162134046-162134047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6901439	chr6:162134063-162134064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193107350	chr6:162134075-162134076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536788167	chr6:162134084-162134085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55836909	chr6:162134177-162134178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116259693	chr6:162134180-162134181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536257249	chr6:162134232-162134233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552973120	chr6:162134233-162134234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150817592	chr6:162134257-162134258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539296558	chr6:162134321-162134322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114636297	chr6:162134334-162134335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575904975	chr6:162134383-162134384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369254997	chr6:162134395-162134396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139315062	chr6:162134422-162134423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544407864	chr6:162134458-162134459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555031212	chr6:162134487-162134488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149998997	chr6:162134551-162134552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372949823	chr6:162134688-162134689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145245860	chr6:162134768-162134769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139346442	chr6:162134771-162134772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369250534	chr6:162134773-162134774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185575676	chr6:162134786-162134787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144088670	chr6:162134807-162134808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146524960	chr6:162134811-162134812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142503720	chr6:162134833-162134834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550440881	chr6:162134845-162134846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111829330	chr6:162134866-162134867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60135428	chr6:162134886-162134887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75278863	chr6:162134895-162134896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566464813	chr6:162134928-162134929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6935243	chr6:162134941-162134942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537164022	chr6:162134958-162134959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13197098	chr6:162134969-162134970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2315551	chr6:162134994-162134995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551811155	chr6:162135000-162135001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538449649	chr6:162135007-162135008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13197108	chr6:162135015-162135016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6935429	chr6:162135024-162135025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574880932	chr6:162135051-162135052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:1654 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162119600-162135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:162137000-162137400	Enhancers	Fetal Brain Male	brain
3	chr6:162137000-162138000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:162137200-162138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:162137600-162138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162137800-162138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:162138000-162143000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:162138000-162148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:162138400-162139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:162139800-162141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:162141000-162141400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:162141400-162141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:162141600-162148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:162142200-162142800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:162142800-162148000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:162143000-162143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:162147600-162148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:162147800-162148400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:162147800-162148800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:162148000-162148600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:162148000-162148800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:162148000-162148800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:162148000-162148800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:162148000-162148800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:162148000-162148800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:162148000-162148800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:162148000-162148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:162148000-162149600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162148200-162148600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:162148200-162148800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:162148200-162149600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:162148800-162153600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:162148800-162157600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:162149600-162153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162153600-162154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:162153800-162154400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:162154200-162157200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:162154400-162157000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:162157000-162158000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:162157200-162157600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:162157200-162157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:162157200-162158000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:162157600-162158000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:162158000-162158400	Enhancers	Fetal Thymus	thymus
45	chr6:162158000-162165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:162161200-162161400	Enhancers	Duodenum Mucosa	Duodenum
47	chr6:162161400-162161800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:162161400-162161800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr6:162161800-162162600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:162161800-162163800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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