Variant report

Variant	nsv522406
Chromosome Location	chr6:147591022-147635413
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:147615081..147617639-chr6:147618287..147620989,3	K562	blood:
2	chr6:147588082..147592199-chr6:147598950..147601651,3	K562	blood:
3	chr20:1061274..1062159-chr6:147608690..147609360,2	MCF-7	breast:
4	chr6:147582141..147584603-chr6:147598166..147600367,2	K562	blood:
5	chr6:147522804..147525350-chr6:147604658..147607399,2	MCF-7	breast:
6	chr6:147178650..147179155-chr6:147605934..147606927,2	K562	blood:
7	chr6:147632934..147634936-chr6:147640228..147643160,2	MCF-7	breast:
8	chr6:147597556..147600253-chr6:147613884..147616530,2	K562	blood:
9	chr6:147603613..147606358-chr6:147670525..147673088,2	K562	blood:
10	chr6:147596142..147599213-chr6:147600887..147603555,4	K562	blood:
11	chr6:147627048..147629299-chr6:147632371..147635278,3	K562	blood:
12	chr6:147218209..147220356-chr6:147630497..147633401,2	K562	blood:
13	chr6:147619344..147621259-chr6:147622624..147624192,2	K562	blood:
14	chr6:147614299..147616581-chr6:147618756..147622866,3	K562	blood:
15	chr6:147593854..147595682-chr6:147603055..147604986,2	MCF-7	breast:
16	chr6:147178362..147178887-chr6:147606280..147606878,2	MCF-7	breast:
17	chr6:147394305..147395892-chr6:147603486..147605338,2	K562	blood:
18	chr6:147487607..147490192-chr6:147607586..147610470,2	K562	blood:
19	chr6:147610982..147613437-chr6:147615648..147618340,2	K562	blood:
20	chr6:147600867..147603452-chr6:147606920..147609139,2	K562	blood:
21	chr6:147596142..147599213-chr6:147600887..147603555,4	K562	blood:
22	chr6:147593854..147595682-chr6:147603055..147604986,2	MCF-7	breast:
23	chr6:147223283..147224171-chr6:147605957..147606781,4	MCF-7	breast:
24	chr6:147541961..147544233-chr6:147614888..147617069,2	K562	blood:
25	chr6:147588082..147592199-chr6:147598950..147601651,3	K562	blood:
26	chr6:147544721..147547282-chr6:147606691..147608691,2	K562	blood:
27	chr6:147578700..147580617-chr6:147593313..147595163,2	K562	blood:
28	chr6:147556538..147559509-chr6:147591738..147594515,2	K562	blood:
29	chr6:147223850..147224584-chr6:147605762..147606365,2	MCF-7	breast:
30	chr6:147485019..147487788-chr6:147631094..147633073,2	K562	blood:
31	chr6:147622507..147624870-chr6:147626952..147629086,2	K562	blood:
32	chr6:147603218..147605835-chr6:147644641..147647408,2	K562	blood:
33	chr6:147627048..147629299-chr6:147632371..147635278,3	K562	blood:
34	chr6:147633394..147635714-chr6:147648364..147650085,2	K562	blood:
35	chr6:147222495..147225240-chr6:147606408..147608326,2	K562	blood:
36	chr6:147614299..147616581-chr6:147618756..147622866,3	K562	blood:
37	chr6:147598437..147600865-chr6:147608002..147611556,3	K562	blood:
38	chr6:147598044..147601159-chr6:147601266..147602927,3	K562	blood:
39	chr6:147583523..147586879-chr6:147592459..147595708,4	K562	blood:
40	chr6:147603604..147605158-chr9:110248613..110251263,2	MCF-7	breast:
41	chr6:147598044..147601159-chr6:147601266..147602927,3	K562	blood:
42	chr6:147564930..147567300-chr6:147589285..147591858,2	K562	blood:
43	chr6:147628339..147630746-chr6:147632929..147635838,2	K562	blood:
44	chr6:147615081..147617639-chr6:147618287..147620989,3	K562	blood:
45	chr6:147632716..147635508-chr6:147662008..147664678,2	K562	blood:
46	chr6:147622507..147624870-chr6:147626952..147629086,2	K562	blood:
47	chr6:147534848..147537270-chr6:147604730..147607356,2	K562	blood:
48	chr6:147597556..147600253-chr6:147613884..147616530,2	K562	blood:
49	chr6:147590566..147593187-chr6:147668783..147670491,2	K562	blood:
50	chr6:147628703..147630384-chr6:147656186..147658681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233452	chromatin interactions
ENSG00000136826	chromatin interactions

Extended variants
information (count: 1580 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs597631	chr6:147591022-147591023	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567130109	chr6:147591070-147591071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186880368	chr6:147591099-147591100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550173783	chr6:147591156-147591157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142290639	chr6:147591167-147591168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570999564	chr6:147591182-147591183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538372228	chr6:147591236-147591237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552211138	chr6:147591255-147591256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565544394	chr6:147591260-147591261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377499591	chr6:147591305-147591306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142153021	chr6:147591316-147591317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369139334	chr6:147591317-147591318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191323674	chr6:147591330-147591331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371354478	chr6:147591342-147591343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs588273	chr6:147591371-147591372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34334155	chr6:147591391-147591392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140156178	chr6:147591404-147591405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576927226	chr6:147591407-147591408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377436504	chr6:147591456-147591457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572350942	chr6:147591520-147591521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71031020	chr6:147591532-147591533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59699622	chr6:147591582-147591583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183240580	chr6:147591611-147591612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187776538	chr6:147591640-147591641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549823582	chr6:147591665-147591666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191299608	chr6:147591730-147591731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116643664	chr6:147591754-147591755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377043033	chr6:147591755-147591756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531133900	chr6:147591756-147591757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534769333	chr6:147591760-147591761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555078752	chr6:147591770-147591771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564536499	chr6:147591789-147591790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150334946	chr6:147591790-147591791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533523682	chr6:147591796-147591797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79164797	chr6:147591827-147591828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565759498	chr6:147591869-147591870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116348545	chr6:147591893-147591894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137870956	chr6:147591963-147591964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543823216	chr6:147591975-147591976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559739301	chr6:147591979-147591980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537350855	chr6:147592044-147592045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182079952	chr6:147592153-147592154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570600232	chr6:147592166-147592167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140833846	chr6:147592178-147592179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58756001	chr6:147592185-147592186	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573262927	chr6:147592237-147592238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144611267	chr6:147592258-147592259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545364405	chr6:147592260-147592261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555360239	chr6:147592271-147592272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60225993	chr6:147592300-147592301	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	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
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
2	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
4	chr6:147561600-147600800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:147562600-147599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:147564400-147604600	Weak transcription	NHLF	lung
7	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
8	chr6:147564600-147608800	Weak transcription	NH-A	brain
9	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
10	chr6:147570600-147609000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:147571400-147599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:147571400-147599400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:147572600-147605800	Weak transcription	Brain Anterior Caudate	brain
14	chr6:147572600-147609600	Weak transcription	Thymus	Thymus
15	chr6:147572600-147610200	Weak transcription	Esophagus	oesophagus
16	chr6:147572800-147599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:147572800-147605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
19	chr6:147573000-147594200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:147573000-147599200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:147573000-147599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:147573000-147599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:147573000-147616600	Weak transcription	Ovary	ovary
24	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
25	chr6:147573200-147599200	Weak transcription	Fetal Lung	lung
26	chr6:147573200-147599800	Weak transcription	Left Ventricle	heart
27	chr6:147573200-147610000	Weak transcription	Fetal Stomach	stomach
28	chr6:147573200-147617000	Weak transcription	Spleen	Spleen
29	chr6:147573400-147609200	Weak transcription	Pancreas	Pancrea
30	chr6:147573800-147608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:147574200-147599600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:147574400-147616600	Weak transcription	Fetal Brain Female	brain
33	chr6:147576800-147609800	Weak transcription	HSMMtube	muscle
34	chr6:147578200-147616800	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:147579200-147610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:147579400-147609800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:147581000-147591600	Strong transcription	K562	blood
38	chr6:147581200-147599400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:147584200-147595400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:147584200-147600800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
42	chr6:147584600-147591400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:147584600-147594800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:147584800-147592400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:147584800-147606000	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:147585000-147603200	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:147585200-147593800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:147585400-147591200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:147585800-147599800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:147585800-147617200	Weak transcription	Fetal Brain Male	brain

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