Variant report

Variant	nsv464079
Chromosome Location	chr6:150836676-150873766
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:150835775..150838453-chr6:150841014..150842645,2	K562	blood:
2	chr6:150863000..150865080-chr6:150869202..150870709,2	K562	blood:
3	chr6:150858643..150861809-chr6:150864654..150868383,3	K562	blood:
4	chr6:150863886..150866190-chr6:150885198..150886787,2	K562	blood:
5	chr6:150854421..150856907-chr6:150860372..150863256,2	MCF-7	breast:
6	chr6:150856840..150859421-chr6:151018731..151021434,2	MCF-7	breast:
7	chr6:150835896..150838702-chr6:150854889..150856398,2	MCF-7	breast:
8	chr6:150830743..150834012-chr6:150835042..150837409,4	K562	blood:
9	chr6:150861044..150862970-chr6:150863595..150866527,2	MCF-7	breast:
10	chr6:150858643..150861809-chr6:150864654..150868383,3	K562	blood:
11	chr6:150835896..150838702-chr6:150854889..150856398,2	MCF-7	breast:
12	chr6:150856138..150858164-chr6:151041932..151043730,2	MCF-7	breast:
13	chr6:150846296..150849812-chr6:150852359..150857324,4	K562	blood:
14	chr6:150861044..150862970-chr6:150863595..150866527,2	MCF-7	breast:
15	chr6:150832697..150834202-chr6:150837344..150839504,2	K562	blood:
16	chr6:150854421..150856907-chr6:150860372..150863256,2	MCF-7	breast:
17	chr6:150847959..150850613-chr6:150920501..150922911,2	K562	blood:
18	chr6:150846296..150849812-chr6:150852359..150857324,4	K562	blood:
19	chr6:150835775..150838453-chr6:150841014..150842645,2	K562	blood:
20	chr6:150863000..150865080-chr6:150869202..150870709,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232891	chromatin interactions
ENSG00000219622	chromatin interactions
ENSG00000120278	chromatin interactions

Extended variants
information (count: 1137 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9322263	chr6:150836676-150836677	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573541410	chr6:150836690-150836691	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542411932	chr6:150836698-150836699	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150105272	chr6:150836712-150836713	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114037877	chr6:150836747-150836748	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145523935	chr6:150836766-150836767	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532243587	chr6:150836767-150836768	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148864081	chr6:150836771-150836772	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369198400	chr6:150836791-150836792	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373776433	chr6:150836832-150836833	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533308691	chr6:150836854-150836855	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186288588	chr6:150836905-150836906	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191006927	chr6:150836911-150836912	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529557909	chr6:150836973-150836974	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76290499	chr6:150836974-150836975	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547220418	chr6:150837013-150837014	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80226602	chr6:150837079-150837080	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76146560	chr6:150837081-150837082	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34751987	chr6:150837097-150837098	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559608380	chr6:150837135-150837136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182491860	chr6:150837166-150837167	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185239498	chr6:150837193-150837194	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6916865	chr6:150837212-150837213	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191333807	chr6:150837218-150837219	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533536514	chr6:150837232-150837233	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547335935	chr6:150837280-150837281	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116207960	chr6:150837314-150837315	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542872357	chr6:150837325-150837326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536077497	chr6:150837350-150837351	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556103041	chr6:150837379-150837380	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183134051	chr6:150837393-150837394	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532907307	chr6:150838010-150838011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551228854	chr6:150838014-150838015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188466283	chr6:150838023-150838024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56240015	chr6:150838044-150838045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546976234	chr6:150838046-150838047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114197004	chr6:150838053-150838054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536166570	chr6:150838059-150838060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568382277	chr6:150838068-150838069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138067972	chr6:150838071-150838072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538814773	chr6:150838080-150838081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73607014	chr6:150838082-150838083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578126437	chr6:150838092-150838093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565216998	chr6:150838104-150838105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534218233	chr6:150838148-150838149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554223856	chr6:150838168-150838169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111282912	chr6:150838173-150838174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142659547	chr6:150838433-150838434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543353411	chr6:150838490-150838491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531072372	chr6:150838528-150838529	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150835800-150836800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:150836000-150837000	Enhancers	Fetal Kidney	kidney
3	chr6:150836600-150837400	Enhancers	Fetal Thymus	thymus
4	chr6:150838000-150838600	Enhancers	Thymus	Thymus
5	chr6:150841600-150842200	Enhancers	Fetal Heart	heart
6	chr6:150841600-150842400	Enhancers	Fetal Brain Male	brain
7	chr6:150841600-150843000	Enhancers	Fetal Intestine Large	intestine
8	chr6:150841800-150842200	Enhancers	Liver	Liver
9	chr6:150841800-150842200	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:150842000-150842400	Enhancers	Adipose Nuclei	Adipose
11	chr6:150842400-150843200	Weak transcription	Fetal Brain Male	brain
12	chr6:150843200-150843600	Enhancers	Fetal Brain Male	brain
13	chr6:150845200-150845400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:150845400-150847600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:150846800-150847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:150847200-150850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:150847600-150849800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:150847800-150848000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:150847800-150850800	Enhancers	Colon Smooth Muscle	Colon
20	chr6:150848000-150849000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:150848000-150849000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:150848200-150848600	Enhancers	Osteobl	bone
23	chr6:150848200-150850600	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:150848400-150848600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:150848400-150849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:150848600-150850600	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:150848600-150851000	Enhancers	Placenta	Placenta
28	chr6:150848800-150849400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:150848800-150849800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:150849000-150849800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:150849000-150850400	Enhancers	Primary B cells from cord blood	blood
32	chr6:150849400-150849800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:150849400-150850200	Enhancers	Fetal Muscle Leg	muscle
34	chr6:150849400-150850200	Enhancers	Fetal Thymus	thymus
35	chr6:150849400-150850400	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:150849400-150850600	Enhancers	Fetal Stomach	stomach
37	chr6:150849600-150850600	Enhancers	Fetal Kidney	kidney
38	chr6:150849600-150850800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:150849800-150850200	Enhancers	Adipose Nuclei	Adipose
40	chr6:150849800-150850200	Enhancers	Pancreas	Pancrea
41	chr6:150849800-150850400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:150849800-150850400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:150849800-150850400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:150849800-150850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:150849800-150851400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:150850000-150850400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:150850000-150850400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:150850000-150850400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:150850000-150850400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:150850000-150850400	Enhancers	Fetal Heart	heart

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