Variant report

Variant	nsv1019703
Chromosome Location	chr6:164424683-164488780
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:26)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164457700..164459500-chr6:164464976..164467950,2	K562	blood:
2	chr6:164457662..164460497-chr6:164462488..164464176,2	K562	blood:
3	chr6:164418688..164420787-chr6:164424639..164426387,2	K562	blood:
4	chr6:164445952..164448558-chr6:164471088..164472960,2	K562	blood:
5	chr6:164456748..164459367-chr6:164462676..164464494,3	K562	blood:
6	chr6:164457662..164460497-chr6:164462488..164464176,2	K562	blood:
7	chr6:164460567..164462817-chr6:164464682..164466683,2	K562	blood:
8	chr6:164417451..164422363-chr6:164423691..164426139,5	K562	blood:
9	chr6:164457135..164459137-chr6:164459767..164461428,2	K562	blood:
10	chr6:164444664..164447079-chr6:164450112..164453288,3	K562	blood:
11	chr6:164419222..164421282-chr6:164425431..164427896,2	MCF-7	breast:
12	chr6:164476599..164479230-chr6:164482473..164484919,2	K562	blood:
13	chr6:164456748..164459367-chr6:164462676..164464494,3	K562	blood:
14	chr6:164465175..164467535-chr6:164468011..164470571,2	MCF-7	breast:
15	chr3:166652337..166653136-chr6:164462924..164463424,2	MCF-7	breast:
16	chr6:164418514..164421393-chr6:164426522..164428198,2	K562	blood:
17	chr6:164439488..164441504-chr6:164445154..164447554,2	K562	blood:
18	chr6:164441188..164443063-chr6:164529123..164531382,2	K562	blood:
19	chr6:164476599..164479230-chr6:164482473..164484919,2	K562	blood:
20	chr6:164457135..164459137-chr6:164459767..164461428,2	K562	blood:
21	chr6:164465175..164467535-chr6:164468011..164470571,2	MCF-7	breast:
22	chr6:164439488..164441504-chr6:164445154..164447554,2	K562	blood:
23	chr6:164444664..164447079-chr6:164450112..164453288,3	K562	blood:
24	chr6:164457700..164459500-chr6:164464976..164467950,2	K562	blood:
25	chr6:164445952..164448558-chr6:164471088..164472960,2	K562	blood:
26	chr6:164460567..164462817-chr6:164464682..164466683,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QKI-3	chr6:164429556-164429693	XLOC_005532
2	lnc-AL078585.1-20	chr6:164450411-164450716	NONHSAT115980
3	lnc-AL078585.1-20	chr6:164449642-164449783	NONHSAT115980

No data

Variant related genes	Relation type
ENSG00000230627	chromatin interactions
INSIG1	miRNA target sites

Extended variants
information (count: 2735 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2735 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571085277	chr6:164424738-164424739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540112427	chr6:164424791-164424792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369497651	chr6:164424792-164424793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376398813	chr6:164424799-164424800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75885628	chr6:164424809-164424810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570054333	chr6:164424867-164424868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535802701	chr6:164424883-164424884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76012490	chr6:164424884-164424885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112057573	chr6:164424886-164424887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181851647	chr6:164424901-164424902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550397193	chr6:164424908-164424909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557963534	chr6:164424914-164424915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147262165	chr6:164424925-164424926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140825232	chr6:164424933-164424934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563387086	chr6:164424947-164424948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35116099	chr6:164424963-164424964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528888490	chr6:164424981-164424982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114923570	chr6:164425005-164425006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372477731	chr6:164425023-164425024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559068147	chr6:164425041-164425042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569052069	chr6:164425042-164425043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79105327	chr6:164425065-164425066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547620290	chr6:164425069-164425070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111541632	chr6:164425094-164425095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571042241	chr6:164425096-164425097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575184345	chr6:164425098-164425099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533336776	chr6:164425101-164425102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550453580	chr6:164425114-164425115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114458812	chr6:164425120-164425121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142948587	chr6:164425143-164425144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186552267	chr6:164425158-164425159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147455484	chr6:164425159-164425160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529826006	chr6:164425199-164425200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs41342244	chr6:164425202-164425203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548469310	chr6:164425213-164425214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557941372	chr6:164425215-164425216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577769127	chr6:164425243-164425244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566610388	chr6:164425249-164425250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75960431	chr6:164425255-164425256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78277695	chr6:164425267-164425268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78765685	chr6:164425322-164425323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11753119	chr6:164425338-164425339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115535664	chr6:164425354-164425355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558990514	chr6:164425355-164425356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544726866	chr6:164425365-164425366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139272706	chr6:164425387-164425388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533582429	chr6:164425441-164425442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550100328	chr6:164425462-164425463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149740443	chr6:164425507-164425508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79151760	chr6:164425516-164425517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164419600-164426200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:164421000-164425400	Weak transcription	Placenta	Placenta
3	chr6:164421600-164425800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:164421600-164426000	Weak transcription	HUVEC	blood vessel
5	chr6:164421600-164431200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:164422200-164425800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:164422400-164426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:164425400-164430000	Enhancers	Placenta	Placenta
9	chr6:164425600-164425800	Enhancers	HSMM	muscle
10	chr6:164425800-164426000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:164425800-164426200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:164426000-164426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:164426000-164426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:164426000-164426800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:164426000-164427000	Enhancers	HUVEC	blood vessel
16	chr6:164426200-164426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:164426200-164426600	Enhancers	NH-A	brain
18	chr6:164426200-164427200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:164426200-164427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:164426400-164426600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:164426400-164430000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:164426800-164431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:164427200-164427400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:164427200-164429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:164427400-164427800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:164427600-164431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:164427800-164429800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:164428800-164429400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:164428800-164429400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:164429200-164429400	Enhancers	Psoas Muscle	Psoas
31	chr6:164429400-164429800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:164429400-164431200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:164429400-164431400	Weak transcription	Psoas Muscle	Psoas
34	chr6:164429800-164430000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:164429800-164430000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:164429800-164430000	Enhancers	Right Atrium	heart
37	chr6:164429800-164430000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:164429800-164434800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:164430000-164431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:164430000-164431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:164430000-164431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:164430000-164433400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:164430400-164431400	Weak transcription	Right Atrium	heart
44	chr6:164430600-164430800	Enhancers	Brain Substantia Nigra	brain
45	chr6:164430800-164431800	Weak transcription	Brain Substantia Nigra	brain
46	chr6:164431000-164431800	Enhancers	Brain Angular Gyrus	brain
47	chr6:164431000-164432200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:164431000-164432600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:164431200-164431400	Enhancers	Brain Hippocampus Middle	brain
50	chr6:164431200-164431600	Enhancers	Right Ventricle	heart

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