Variant report

Variant	nsv481946
Chromosome Location	chr6:162157765-162714514
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:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
2	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
3	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
4	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
5	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
6	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
7	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
8	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
9	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
10	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
11	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
12	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
13	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
14	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
15	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
16	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
17	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
18	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
19	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
20	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
21	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
22	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
23	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
24	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
25	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
26	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
27	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
28	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
29	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
30	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
31	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
32	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
33	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
34	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
35	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
36	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
37	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
38	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
39	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
40	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
41	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
42	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
43	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
44	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
45	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
46	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
47	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
48	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
49	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
50	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:

No data

Extended variants
information (count: 21798 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:21798 , 50 per page) page: 1 2 3 4 5 6 7 ... 436

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532901028	chr6:162157788-162157789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77927525	chr6:162157827-162157828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147544383	chr6:162157830-162157831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55687922	chr6:162157838-162157839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4708928	chr6:162157860-162157861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
6	rs4708929	chr6:162157867-162157868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs80175408	chr6:162157905-162157906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140165873	chr6:162157915-162157916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558241731	chr6:162157989-162157990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533803114	chr6:162158034-162158035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543768562	chr6:162158037-162158038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188467215	chr6:162158048-162158049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576273540	chr6:162158058-162158059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541653711	chr6:162158059-162158060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547727738	chr6:162158064-162158065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561544503	chr6:162158124-162158125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527427469	chr6:162158143-162158144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143854305	chr6:162158151-162158152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369131074	chr6:162158165-162158166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540738110	chr6:162158172-162158173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564162881	chr6:162158178-162158179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147236910	chr6:162158179-162158180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566023383	chr6:162158181-162158182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549715944	chr6:162158195-162158196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193105656	chr6:162158202-162158203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529609819	chr6:162158207-162158208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549637745	chr6:162158211-162158212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566284949	chr6:162158214-162158215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2982903	chr6:162158268-162158269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs73783376	chr6:162158275-162158276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139786481	chr6:162158285-162158286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538566073	chr6:162158288-162158289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149786832	chr6:162158303-162158304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6941719	chr6:162158312-162158313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576307802	chr6:162158335-162158336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571958459	chr6:162158350-162158351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555263976	chr6:162158362-162158363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541714183	chr6:162158364-162158365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6940636	chr6:162158394-162158395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571914640	chr6:162158427-162158428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555516318	chr6:162158429-162158430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540801260	chr6:162158437-162158438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114628254	chr6:162158441-162158442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6920879	chr6:162158455-162158456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12526947	chr6:162158495-162158496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78009264	chr6:162158522-162158523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2180025	chr6:162158580-162158581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs2982902	chr6:162158621-162158622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145760962	chr6:162158627-162158628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148675136	chr6:162158669-162158670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:1809 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162157000-162158000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:162157200-162157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:162157200-162158000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:162157600-162158000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162158000-162158400	Enhancers	Fetal Thymus	thymus
6	chr6:162158000-162165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:162161200-162161400	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:162161400-162161800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:162161400-162161800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr6:162161800-162162600	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:162161800-162163800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:162163800-162164000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:162163800-162164800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:162164000-162164400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:162164400-162165600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:162164600-162165000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:162164800-162165000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:162164800-162165600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:162164800-162166800	Enhancers	NH-A	brain
20	chr6:162165000-162166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:162165000-162167200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:162165400-162165600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:162165400-162166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:162165600-162165800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:162165600-162167000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:162165600-162167200	Enhancers	Brain Germinal Matrix	brain
27	chr6:162165600-162169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:162165800-162166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:162165800-162167200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:162166400-162166600	Enhancers	Brain Hippocampus Middle	brain
31	chr6:162166400-162166600	Enhancers	Pancreas	Pancrea
32	chr6:162166400-162166800	Enhancers	Brain Substantia Nigra	brain
33	chr6:162166400-162167200	Enhancers	Brain Angular Gyrus	brain
34	chr6:162166400-162167400	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:162166600-162166800	Enhancers	Brain Anterior Caudate	brain
36	chr6:162166600-162167200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:162166600-162167400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr6:162166600-162169600	Weak transcription	Pancreas	Pancrea
39	chr6:162166800-162167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:162166800-162167200	Active TSS	Brain Anterior Caudate	brain
41	chr6:162166800-162167200	Enhancers	HepG2	liver
42	chr6:162166800-162167200	Flanking Active TSS	NH-A	brain
43	chr6:162166800-162167200	Active TSS	NHDF-Ad	bronchial
44	chr6:162166800-162167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:162166800-162167400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:162166800-162167400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr6:162167000-162167200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:162167000-162167400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr6:162167200-162167400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:162167200-162167400	Enhancers	Brain Anterior Caudate	brain

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