Variant report

Variant	nsv1018409
Chromosome Location	chr6:162230574-162546704
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
2	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
3	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
4	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
7	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
8	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
9	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
10	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
11	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
12	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
13	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
14	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
15	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
16	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
17	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
18	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
19	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
20	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
21	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
22	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
23	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
24	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
25	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
26	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
27	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
28	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
29	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
30	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
31	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
32	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
33	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
34	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:

No data

Extended variants
information (count: 11927 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:11927 , 50 per page) page: 1 2 3 4 5 6 7 ... 239

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557238988	chr6:162230583-162230584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567542527	chr6:162230588-162230589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536185266	chr6:162230592-162230593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555708445	chr6:162230607-162230608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572368622	chr6:162230653-162230654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192790926	chr6:162230654-162230655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557835093	chr6:162230689-162230690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34848280	chr6:162230701-162230702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540018702	chr6:162230705-162230706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577764303	chr6:162230727-162230728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138872611	chr6:162230749-162230750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563576870	chr6:162230820-162230821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529569575	chr6:162230865-162230866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542973784	chr6:162230878-162230879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9458382	chr6:162230920-162230921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs555116311	chr6:162230948-162230949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140568869	chr6:162230958-162230959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571360879	chr6:162231031-162231032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377471157	chr6:162231039-162231040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145690902	chr6:162231045-162231046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369562692	chr6:162231052-162231053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550778920	chr6:162231089-162231090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138613833	chr6:162231122-162231123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113665956	chr6:162231150-162231151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576925709	chr6:162231208-162231209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183762606	chr6:162231219-162231220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149291231	chr6:162231233-162231234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9456712	chr6:162231240-162231241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187180095	chr6:162231255-162231256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144629665	chr6:162231287-162231288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148050865	chr6:162231316-162231317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143426142	chr6:162231349-162231350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376485626	chr6:162231355-162231356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147127601	chr6:162231360-162231361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191648999	chr6:162231383-162231384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570185025	chr6:162231443-162231444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537256307	chr6:162231503-162231504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9456713	chr6:162231507-162231508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532257052	chr6:162231513-162231514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559797713	chr6:162231543-162231544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573526444	chr6:162231549-162231550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545011042	chr6:162231550-162231551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564907926	chr6:162231568-162231569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377691375	chr6:162231574-162231575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550715145	chr6:162231639-162231640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550846117	chr6:162231677-162231678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184603137	chr6:162231713-162231714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546822057	chr6:162231737-162231738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566647252	chr6:162231794-162231795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538585148	chr6:162231878-162231879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162220600-162234600	Weak transcription	Ovary	ovary
2	chr6:162230200-162230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:162234600-162234800	ZNF genes & repeats	Ovary	ovary
4	chr6:162234800-162236200	Weak transcription	Ovary	ovary
5	chr6:162236400-162237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:162236400-162237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:162236400-162237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:162236600-162237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:162236600-162237000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:162236600-162237200	Enhancers	NHEK	skin
11	chr6:162236600-162237400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:162236600-162238200	Enhancers	Fetal Brain Male	brain
13	chr6:162237200-162238400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:162238200-162243200	Weak transcription	Fetal Brain Male	brain
15	chr6:162238400-162238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:162243200-162243600	Enhancers	Fetal Brain Male	brain
17	chr6:162243600-162244400	Weak transcription	Fetal Brain Male	brain
18	chr6:162244400-162245200	Enhancers	Fetal Brain Male	brain
19	chr6:162245000-162245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:162245200-162246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:162245200-162247600	Weak transcription	Fetal Brain Male	brain
22	chr6:162246600-162246800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:162246800-162247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:162247600-162248400	Enhancers	Fetal Brain Male	brain
25	chr6:162247600-162250200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:162248000-162248400	Enhancers	Fetal Brain Female	brain
29	chr6:162248000-162249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:162248200-162249200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:162248400-162250400	Weak transcription	Fetal Brain Male	brain
32	chr6:162248400-162256800	Weak transcription	Fetal Brain Female	brain
33	chr6:162249000-162249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:162249000-162255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:162249200-162249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:162249200-162253600	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:162249400-162249600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:162249400-162249800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:162249400-162251200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:162249400-162251200	Enhancers	Brain Hippocampus Middle	brain
41	chr6:162249600-162250200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:162249600-162251200	Enhancers	Thymus	Thymus
43	chr6:162249600-162252000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:162249600-162252400	Enhancers	Fetal Thymus	thymus
45	chr6:162249800-162251200	Enhancers	Brain Substantia Nigra	brain
46	chr6:162250000-162250200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:162250000-162251200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:162250200-162250400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr6:162250200-162250400	Enhancers	Brain Angular Gyrus	brain
50	chr6:162250200-162250400	Enhancers	Brain Anterior Caudate	brain

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