Variant report

Variant	nsv966699
Chromosome Location	chr6:147647301-147654269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr6:147653145-147653160	K562	blood:	n/a	n/a
2	EBF1	chr6:147651706-147651713	GM12878	blood:	n/a	n/a
3	JUN	chr6:147652977-147653062	K562	blood:	n/a	n/a
4	NFE2	chr6:147649239-147649314	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:147653088-147653975	K562	blood:	n/a	n/a
6	POLR2A	chr6:147647533-147648377	K562	blood:	n/a	n/a
7	POLR2A	chr6:147651749-147652140	K562	blood:	n/a	n/a
8	POLR2A	chr6:147653481-147653999	K562	blood:	n/a	n/a
9	POLR2A	chr6:147649368-147650079	K562	blood:	n/a	n/a
10	POLR2A	chr6:147652883-147653002	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:147648610-147648659	K562	blood:	n/a	n/a
12	POLR2A	chr6:147649420-147649513	Gliobla	brain:	n/a	n/a
13	POLR2A	chr6:147646774-147647310	K562	blood:	n/a	n/a
14	POLR2A	chr6:147653099-147653891	K562	blood:	n/a	n/a
15	POLR2A	chr6:147648068-147648072	K562	blood:	n/a	n/a
16	POLR2A	chr6:147649289-147649301	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:147654148-147654286	K562	blood:	n/a	n/a
18	POLR2A	chr6:147651255-147652257	K562	blood:	n/a	n/a
19	POLR2A	chr6:147652572-147652847	K562	blood:	n/a	n/a
20	STAT3	chr6:147652479-147652843	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147640144..147641920-chr6:147649062..147651490,2	K562	blood:
2	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:
3	chr6:147649628..147652559-chr6:147657178..147658972,2	K562	blood:
4	chr6:147633394..147635714-chr6:147648364..147650085,2	K562	blood:
5	chr6:147603218..147605835-chr6:147644641..147647408,2	K562	blood:
6	chr6:147643796..147646367-chr6:147650099..147652941,2	K562	blood:
7	chr6:147640420..147643294-chr6:147648350..147651490,3	K562	blood:

No data

Variant related genes	Relation type
STXBP5	TF binding region

Extended variants
information (count: 239 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568835464	chr6:147647304-147647305	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs569535851	chr6:147647312-147647313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186257114	chr6:147647331-147647332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530384110	chr6:147647337-147647338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117235513	chr6:147647368-147647369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375558034	chr6:147647370-147647371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11965185	chr6:147647386-147647387	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571917171	chr6:147647402-147647403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150489897	chr6:147647431-147647432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73586335	chr6:147647434-147647435	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560560549	chr6:147647444-147647445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189162678	chr6:147647463-147647464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369690002	chr6:147647525-147647526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372912797	chr6:147647527-147647528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138262402	chr6:147647637-147647638	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73586336	chr6:147647698-147647699	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546134590	chr6:147647704-147647705	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559807888	chr6:147647737-147647738	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528786065	chr6:147647744-147647745	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs9403849	chr6:147647751-147647752	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149605358	chr6:147647801-147647802	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552677228	chr6:147647810-147647811	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs180683989	chr6:147647967-147647968	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554341961	chr6:147647968-147647969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573924896	chr6:147648001-147648002	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549632846	chr6:147648091-147648092	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187219249	chr6:147648094-147648095	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190900075	chr6:147648147-147648148	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs532019737	chr6:147648174-147648175	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200673721	chr6:147648220-147648221	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201062937	chr6:147648221-147648222	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373258404	chr6:147648229-147648230	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376804373	chr6:147648236-147648237	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368337313	chr6:147648314-147648315	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557444964	chr6:147648322-147648323	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201635755	chr6:147648338-147648339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143352745	chr6:147648345-147648346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371340875	chr6:147648363-147648364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534581572	chr6:147648380-147648381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566025164	chr6:147648415-147648416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554374355	chr6:147648470-147648471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567927366	chr6:147648502-147648503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373469793	chr6:147648505-147648506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76132287	chr6:147648532-147648533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377386020	chr6:147648534-147648535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35191215	chr6:147648543-147648544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181685775	chr6:147648593-147648594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186026874	chr6:147648611-147648612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536332196	chr6:147648649-147648650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371129891	chr6:147648665-147648666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
7	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
8	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
9	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
10	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
11	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
14	chr6:147625800-147667400	Weak transcription	Gastric	stomach
15	chr6:147626000-147648600	Weak transcription	Fetal Stomach	stomach
16	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:147626000-147687000	Weak transcription	Lung	lung
18	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
20	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:147626400-147655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
27	chr6:147628000-147648600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:147628000-147648600	Weak transcription	Right Ventricle	heart
29	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
30	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
32	chr6:147632000-147648800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:147633200-147650000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr6:147633800-147684400	Weak transcription	Ovary	ovary
35	chr6:147634800-147650000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:147635800-147647600	Weak transcription	Placenta	Placenta
37	chr6:147637000-147686800	Weak transcription	A549	lung
38	chr6:147638200-147647600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:147638400-147655200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:147639800-147649400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:147639800-147654600	Weak transcription	HUVEC	blood vessel
42	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:147640200-147648600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:147640200-147649200	Weak transcription	NH-A	brain
45	chr6:147641800-147648200	Weak transcription	Left Ventricle	heart
46	chr6:147641800-147653000	Weak transcription	Esophagus	oesophagus
47	chr6:147642800-147650200	Strong transcription	K562	blood
48	chr6:147642800-147705000	Weak transcription	HepG2	liver
49	chr6:147643000-147650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:147643000-147650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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