Variant report

Variant	nsv1017412
Chromosome Location	chr6:162065367-162347056
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
2	chr6:162057469..162059362-chr6:162068678..162070292,2	K562	blood:
3	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
4	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
5	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
6	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
7	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
8	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
9	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
10	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:
11	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
12	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
13	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
14	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:
15	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
16	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
17	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
18	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
19	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
20	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
21	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
22	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
23	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
24	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
25	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
26	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
27	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
28	chr6:162039551..162040468-chr6:162115665..162116674,7	MCF-7	breast:
29	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
30	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
31	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
32	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
33	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
34	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
35	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:

No data

Extended variants
information (count: 11604 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:11604 , 50 per page) page: 1 2 3 4 5 6 7 ... 233

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10945761	chr6:162065367-162065368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11965287	chr6:162065374-162065375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6455748	chr6:162065385-162065386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138016569	chr6:162065422-162065423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114735864	chr6:162065447-162065448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527865675	chr6:162065470-162065471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547943113	chr6:162065521-162065522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369922178	chr6:162065541-162065542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564588304	chr6:162065542-162065543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533425705	chr6:162065560-162065561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552722354	chr6:162065572-162065573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79706016	chr6:162065598-162065599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182311905	chr6:162065619-162065620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538182193	chr6:162065646-162065647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548174740	chr6:162065663-162065664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568276937	chr6:162065664-162065665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6455749	chr6:162065702-162065703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13190938	chr6:162065708-162065709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75854938	chr6:162065713-162065714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574701691	chr6:162065794-162065795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13202402	chr6:162065815-162065816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6914754	chr6:162065816-162065817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544178317	chr6:162065824-162065825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13202411	chr6:162065837-162065838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13201589	chr6:162065868-162065869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13201596	chr6:162065882-162065883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541654700	chr6:162065886-162065887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13201737	chr6:162065977-162065978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs207467553	chr6:162065981-162065982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533514073	chr6:162066000-162066001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186625788	chr6:162066027-162066028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535843733	chr6:162066035-162066036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6938880	chr6:162066084-162066085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190296125	chr6:162066110-162066111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6916828	chr6:162066216-162066217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6939123	chr6:162066229-162066230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527538118	chr6:162066237-162066238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9647609	chr6:162066238-162066239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78726523	chr6:162066252-162066253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75615974	chr6:162066253-162066254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555823906	chr6:162066270-162066271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201206787	chr6:162066276-162066277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73021469	chr6:162066299-162066300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144837149	chr6:162066326-162066327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555303556	chr6:162066334-162066335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113137575	chr6:162066383-162066384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183072433	chr6:162066387-162066388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558432840	chr6:162066409-162066410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9647610	chr6:162066421-162066422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs539325857	chr6:162066426-162066427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162057600-162068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:162064600-162068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:162065400-162066200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:162065600-162065800	Enhancers	Esophagus	oesophagus
5	chr6:162067400-162067600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162067600-162067800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:162067600-162067800	Enhancers	Esophagus	oesophagus
8	chr6:162068400-162069400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:162070000-162070400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:162075800-162076000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:162075800-162076600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:162076200-162077400	Enhancers	Pancreas	Pancrea
13	chr6:162076600-162078200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:162077400-162078400	Enhancers	Fetal Kidney	kidney
15	chr6:162078200-162079000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:162078400-162079400	Weak transcription	Fetal Kidney	kidney
17	chr6:162079000-162080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:162079000-162080200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:162079200-162079600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:162079400-162080000	Enhancers	Fetal Kidney	kidney
21	chr6:162080000-162080600	Weak transcription	Fetal Kidney	kidney
22	chr6:162080000-162080800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:162080600-162081200	Enhancers	Fetal Kidney	kidney
24	chr6:162081200-162081800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:162093600-162094400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:162094000-162094200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:162094200-162094400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:162094200-162094400	Enhancers	Psoas Muscle	Psoas
29	chr6:162094400-162097000	Weak transcription	Psoas Muscle	Psoas
30	chr6:162094400-162103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:162096600-162098600	Enhancers	Brain Germinal Matrix	brain
32	chr6:162097000-162098600	Enhancers	Fetal Brain Female	brain
33	chr6:162097000-162098600	Enhancers	Psoas Muscle	Psoas
34	chr6:162097400-162097800	Enhancers	Fetal Brain Male	brain
35	chr6:162097400-162098200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:162097600-162098200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:162098400-162098800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:162098600-162099800	Weak transcription	Brain Germinal Matrix	brain
39	chr6:162098800-162118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:162099800-162100000	Enhancers	Brain Germinal Matrix	brain
41	chr6:162100000-162100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:162100000-162103600	Weak transcription	Brain Germinal Matrix	brain
43	chr6:162100200-162100400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:162100400-162102600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:162102600-162104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:162102600-162104400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:162103000-162104200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:162103200-162103400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:162103800-162104200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:162103800-162104800	Enhancers	Pancreas	Pancrea

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