Variant report

Variant	nsv830860
Chromosome Location	chr6:164553614-164744191
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:48)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164731962..164734795-chr6:164735701..164737478,3	K562	blood:
2	chr6:164614484..164616330-chr6:164629082..164631866,2	K562	blood:
3	chr6:164713838..164716311-chr6:164727906..164730405,2	K562	blood:
4	chr6:164706481..164708924-chr6:164752928..164755919,2	K562	blood:
5	chr6:164671612..164673761-chr6:164712440..164714026,2	K562	blood:
6	chr6:164712669..164714508-chr6:164719300..164721569,2	K562	blood:
7	chr6:164563456..164565737-chr6:164880821..164882711,2	K562	blood:
8	chr6:164727860..164730781-chr6:164731732..164734067,2	K562	blood:
9	chr6:164595140..164597858-chr6:164600082..164602798,3	K562	blood:
10	chr6:164736111..164739079-chr6:164741127..164745008,3	K562	blood:
11	chr6:164627692..164629957-chr6:164632662..164634541,2	K562	blood:
12	chr6:164646324..164648303-chr6:164649467..164652138,2	K562	blood:
13	chr6:164686509..164688564-chr6:164690409..164692977,2	K562	blood:
14	chr6:164742662..164745267-chr6:164747175..164749442,3	K562	blood:
15	chr6:164692189..164693891-chr6:164695981..164698909,2	K562	blood:
16	chr6:164736111..164739079-chr6:164741127..164745008,3	K562	blood:
17	chr5:95094483..95095366-chr6:164587228..164588038,2	MCF-7	breast:
18	chr6:164671612..164673761-chr6:164712440..164714026,2	K562	blood:
19	chr6:164686752..164688649-chr6:164926400..164929069,2	K562	blood:
20	chr6:164646324..164648303-chr6:164649467..164652138,2	K562	blood:
21	chr6:164711353..164714302-chr6:164897118..164899591,2	K562	blood:
22	chr6:164702103..164703912-chr6:164711882..164714146,2	K562	blood:
23	chr6:164702103..164703912-chr6:164711882..164714146,2	K562	blood:
24	chr6:164717346..164719044-chr6:164747978..164750419,2	K562	blood:
25	chr6:164729122..164734795-chr6:164735302..164740911,7	K562	blood:
26	chr6:164735619..164738166-chr6:164738187..164743877,4	K562	blood:
27	chr6:164712669..164714508-chr6:164719300..164721569,2	K562	blood:
28	chr6:164731962..164734795-chr6:164735701..164737478,3	K562	blood:
29	chr6:164637205..164638102-chr6:165340164..165340958,2	MCF-7	breast:
30	chr6:164727860..164730781-chr6:164731732..164734067,2	K562	blood:
31	chr15:53038140..53039640-chr6:164665968..164668696,2	K562	blood:
32	chr6:164735619..164738166-chr6:164738187..164743877,4	K562	blood:
33	chr6:164719975..164721719-chr6:164755940..164758933,2	K562	blood:
34	chr6:164707613..164710449-chr6:164710652..164712562,3	K562	blood:
35	chr6:164686509..164688564-chr6:164690409..164692977,2	K562	blood:
36	chr6:164663964..164666886-chr6:164937813..164940222,2	K562	blood:
37	chr6:164595140..164597858-chr6:164600082..164602798,3	K562	blood:
38	chr6:164740568..164742873-chr6:164745076..164747245,2	K562	blood:
39	chr6:164713838..164716311-chr6:164727906..164730405,2	K562	blood:
40	chr6:164554777..164556734-chr6:164557621..164559677,2	K562	blood:
41	chr6:164729122..164734795-chr6:164735302..164740911,7	K562	blood:
42	chr6:164614484..164616330-chr6:164629082..164631866,2	K562	blood:
43	chr6:164720743..164723150-chr6:164725103..164727494,2	K562	blood:
44	chr6:164627692..164629957-chr6:164632662..164634541,2	K562	blood:
45	chr6:164720743..164723150-chr6:164725103..164727494,2	K562	blood:
46	chr6:164707613..164710449-chr6:164710652..164712562,3	K562	blood:
47	chr6:164554777..164556734-chr6:164557621..164559677,2	K562	blood:
48	chr6:164692189..164693891-chr6:164695981..164698909,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf118-6	chr6:164739070-164739176	NONHSAT115987
2	lnc-C6orf118-8	chr6:164689323-164689667	NONHSAT115985
3	lnc-C6orf118-7	chr6:164692662-164692858	NONHSAT115986
4	lnc-C6orf118-6	chr6:164714621-164714762	NONHSAT115987
5	lnc-C6orf118-7	chr6:164692113-164692407	NONHSAT115986
6	lnc-C6orf118-8	chr6:164687512-164687632	NONHSAT115985

No data

Variant related genes	Relation type
SH3GL1	miRNA target sites
ZNF462	miRNA target sites

Extended variants
information (count: 5991 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5991 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116400496	chr6:164553620-164553621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77015360	chr6:164553622-164553623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542513898	chr6:164553642-164553643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114926994	chr6:164553643-164553644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527846734	chr6:164553695-164553696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548014186	chr6:164553764-164553765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564709679	chr6:164553767-164553768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540334863	chr6:164553807-164553808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369812164	chr6:164553811-164553812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373567086	chr6:164553827-164553828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181499815	chr6:164553850-164553851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9459001	chr6:164553852-164553853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535856325	chr6:164553877-164553878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74830353	chr6:164553914-164553915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144481699	chr6:164553952-164553953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59531054	chr6:164553953-164553954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12199928	chr6:164553961-164553962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113828338	chr6:164553986-164553987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147359022	chr6:164553989-164553990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577804135	chr6:164553996-164553997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113298941	chr6:164554009-164554010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58810878	chr6:164554013-164554014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139814872	chr6:164554066-164554067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542653581	chr6:164554090-164554091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145150343	chr6:164554151-164554152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375685766	chr6:164554156-164554157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186182055	chr6:164554160-164554161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60351905	chr6:164554214-164554215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572766646	chr6:164554227-164554228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190104646	chr6:164554242-164554243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541780507	chr6:164554273-164554274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564498784	chr6:164554274-164554275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533595262	chr6:164554281-164554282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370232595	chr6:164554283-164554284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563812618	chr6:164554306-164554307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181239786	chr6:164554318-164554319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548960383	chr6:164554339-164554340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9364720	chr6:164554341-164554342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576810535	chr6:164554365-164554366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59937062	chr6:164554382-164554383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377487805	chr6:164554388-164554389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186513276	chr6:164554460-164554461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556742955	chr6:164554497-164554498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567358564	chr6:164554599-164554600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75988308	chr6:164554602-164554603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74913678	chr6:164554604-164554605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572903660	chr6:164554614-164554615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537709459	chr6:164554632-164554633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116193996	chr6:164554645-164554646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191014470	chr6:164554672-164554673	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164543600-164554400	Weak transcription	Pancreas	Pancrea
2	chr6:164550800-164554600	Enhancers	Brain Germinal Matrix	brain
3	chr6:164551600-164554400	Weak transcription	Left Ventricle	heart
4	chr6:164553600-164553800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:164554400-164554600	Enhancers	Left Ventricle	heart
6	chr6:164554400-164555000	Enhancers	Pancreas	Pancrea
7	chr6:164559200-164560000	Enhancers	HSMMtube	muscle
8	chr6:164560000-164563000	Weak transcription	HSMMtube	muscle
9	chr6:164560400-164562600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:164562600-164564400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:164562600-164564600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:164562800-164563200	Enhancers	Brain Substantia Nigra	brain
13	chr6:164563000-164563200	Enhancers	Fetal Brain Female	brain
14	chr6:164563000-164564000	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:164563000-164564000	Enhancers	HSMMtube	muscle
16	chr6:164563200-164563600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:164563200-164563800	Weak transcription	Fetal Brain Female	brain
18	chr6:164563200-164564000	Enhancers	Brain Anterior Caudate	brain
19	chr6:164563200-164564000	Enhancers	Brain Germinal Matrix	brain
20	chr6:164563400-164564000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:164563400-164564000	Enhancers	Aorta	Aorta
22	chr6:164563400-164564000	Enhancers	Brain Hippocampus Middle	brain
23	chr6:164563400-164564000	Enhancers	Fetal Heart	heart
24	chr6:164563600-164563800	Enhancers	Brain Substantia Nigra	brain
25	chr6:164563800-164564000	Enhancers	Fetal Brain Male	brain
26	chr6:164563800-164564000	Enhancers	Fetal Brain Female	brain
27	chr6:164563800-164571200	Weak transcription	Brain Substantia Nigra	brain
28	chr6:164564000-164569400	Weak transcription	Fetal Heart	heart
29	chr6:164564000-164569600	Weak transcription	HSMMtube	muscle
30	chr6:164564000-164571000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:164564000-164571200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:164564000-164571200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:164564000-164571400	Weak transcription	Fetal Brain Male	brain
34	chr6:164564400-164565400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:164565400-164566000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr6:164569400-164571200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:164569400-164573200	Enhancers	Fetal Heart	heart
38	chr6:164569600-164569800	Enhancers	NH-A	brain
39	chr6:164569600-164570000	Enhancers	HSMM	muscle
40	chr6:164569600-164570000	Flanking Active TSS	HSMMtube	muscle
41	chr6:164569600-164570800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:164569600-164570800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:164569800-164570000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:164570000-164570400	Enhancers	HSMMtube	muscle
45	chr6:164570000-164571000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:164570000-164573000	Weak transcription	HSMM	muscle
47	chr6:164570200-164571200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:164570400-164570600	Enhancers	Fetal Muscle Trunk	muscle
49	chr6:164570400-164570600	Enhancers	Psoas Muscle	Psoas
50	chr6:164570400-164570600	Enhancers	Right Atrium	heart

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