Variant report

Variant	nsv481938
Chromosome Location	chr6:162222617-162506784
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
2	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
3	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
4	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
5	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
6	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
7	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
8	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
9	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
10	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
11	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
12	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
13	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
14	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
15	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
16	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
17	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
18	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
19	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
20	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
21	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
22	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
23	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
24	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
25	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
26	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
27	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
28	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
29	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
30	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
31	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:

No data

Extended variants
information (count: 10832 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:10832 , 50 per page) page: 1 2 3 4 5 6 7 ... 217

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10945779	chr6:162222638-162222639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547632178	chr6:162222647-162222648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564228850	chr6:162222678-162222679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533306815	chr6:162222692-162222693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58803073	chr6:162222701-162222702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538321892	chr6:162222708-162222709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149354176	chr6:162222709-162222710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58069504	chr6:162222733-162222734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534402549	chr6:162222773-162222774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554398943	chr6:162222774-162222775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571053530	chr6:162222799-162222800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540165423	chr6:162222862-162222863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527411585	chr6:162222866-162222867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182787355	chr6:162222916-162222917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541494280	chr6:162222924-162222925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555055527	chr6:162222946-162222947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188154662	chr6:162222961-162222962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115569880	chr6:162223058-162223059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77434041	chr6:162223169-162223170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192824325	chr6:162223175-162223176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143633949	chr6:162223225-162223226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569775656	chr6:162223275-162223276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531755158	chr6:162223347-162223348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148114070	chr6:162223373-162223374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112019315	chr6:162223440-162223441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9295169	chr6:162223449-162223450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375596686	chr6:162223469-162223470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547665569	chr6:162223480-162223481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571057438	chr6:162223485-162223486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182814839	chr6:162223497-162223498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539721088	chr6:162223504-162223505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536840795	chr6:162223506-162223507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183482254	chr6:162223540-162223541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187264722	chr6:162223553-162223554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116067380	chr6:162223559-162223560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141916490	chr6:162223588-162223589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375914455	chr6:162223589-162223590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192603792	chr6:162223657-162223658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541156282	chr6:162223700-162223701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9295170	chr6:162223765-162223766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150638413	chr6:162223779-162223780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139342074	chr6:162223799-162223800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563585230	chr6:162223822-162223823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542395761	chr6:162223864-162223865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6941641	chr6:162223889-162223890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542240147	chr6:162223973-162223974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562103726	chr6:162224001-162224002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527766586	chr6:162224048-162224049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547896650	chr6:162224049-162224050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552908713	chr6:162224050-162224051	Enhancers 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:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162213200-162229000	Weak transcription	Aorta	Aorta
2	chr6:162213600-162224800	Weak transcription	Left Ventricle	heart
3	chr6:162219400-162224400	Weak transcription	Right Ventricle	heart
4	chr6:162220600-162234600	Weak transcription	Ovary	ovary
5	chr6:162223800-162224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:162223800-162224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:162224000-162225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:162224400-162225600	Enhancers	Right Ventricle	heart
9	chr6:162224800-162225600	Enhancers	Left Ventricle	heart
10	chr6:162225000-162225400	Enhancers	Right Atrium	heart
11	chr6:162225400-162225800	Enhancers	Fetal Thymus	thymus
12	chr6:162225400-162226000	Enhancers	Fetal Heart	heart
13	chr6:162225800-162226200	Weak transcription	Fetal Thymus	thymus
14	chr6:162226200-162226800	Enhancers	Fetal Thymus	thymus
15	chr6:162226800-162227000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:162227000-162228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:162230200-162230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:162234600-162234800	ZNF genes & repeats	Ovary	ovary
19	chr6:162234800-162236200	Weak transcription	Ovary	ovary
20	chr6:162236400-162237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:162236400-162237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:162236400-162237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:162236600-162237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:162236600-162237000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:162236600-162237200	Enhancers	NHEK	skin
26	chr6:162236600-162237400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:162236600-162238200	Enhancers	Fetal Brain Male	brain
28	chr6:162237200-162238400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162238200-162243200	Weak transcription	Fetal Brain Male	brain
30	chr6:162238400-162238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:162243200-162243600	Enhancers	Fetal Brain Male	brain
32	chr6:162243600-162244400	Weak transcription	Fetal Brain Male	brain
33	chr6:162244400-162245200	Enhancers	Fetal Brain Male	brain
34	chr6:162245000-162245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:162245200-162246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:162245200-162247600	Weak transcription	Fetal Brain Male	brain
37	chr6:162246600-162246800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:162246800-162247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:162247600-162248400	Enhancers	Fetal Brain Male	brain
40	chr6:162247600-162250200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:162248000-162248400	Enhancers	Fetal Brain Female	brain
44	chr6:162248000-162249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:162248200-162249200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:162248400-162250400	Weak transcription	Fetal Brain Male	brain
47	chr6:162248400-162256800	Weak transcription	Fetal Brain Female	brain
48	chr6:162249000-162249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:162249000-162255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:162249200-162249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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