Variant report

Variant	esv2761044
Chromosome Location	chr6:150644384-150647013
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150644840..150646705-chr6:150652961..150654511,2	K562	blood:
2	chr6:150514785..150516493-chr6:150643803..150645499,2	K562	blood:
3	chr6:150500428..150502661-chr6:150644242..150645820,2	K562	blood:
4	chr6:150642041..150644950-chr6:150645013..150647968,3	K562	blood:
5	chr6:150638163..150639671-chr6:150643884..150646332,2	MCF-7	breast:
6	chr6:150637450..150641855-chr6:150642003..150645154,6	K562	blood:
7	chr6:150642390..150644728-chr6:150645013..150646951,2	K562	blood:
8	chr6:150586437..150588677-chr6:150642579..150644863,2	K562	blood:
9	chr6:150642390..150644728-chr6:150645013..150646951,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201628	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9384387	chr6:150644384-150644385	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151287541	chr6:150644395-150644396	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115574710	chr6:150644452-150644453	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532446831	chr6:150644469-150644470	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546052272	chr6:150644475-150644476	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9384388	chr6:150644476-150644477	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527800285	chr6:150644511-150644512	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192246209	chr6:150644523-150644524	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567554318	chr6:150644558-150644559	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78098668	chr6:150644560-150644561	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549753134	chr6:150644561-150644562	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570061112	chr6:150644574-150644575	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139357339	chr6:150644629-150644630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552386561	chr6:150644684-150644685	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117077035	chr6:150644723-150644724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534424082	chr6:150644732-150644733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570355096	chr6:150644768-150644769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539346059	chr6:150644788-150644789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554609902	chr6:150644789-150644790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574439240	chr6:150644800-150644801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150046001	chr6:150644803-150644804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59893671	chr6:150644875-150644876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577246832	chr6:150644897-150644898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145398532	chr6:150644933-150644934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57111320	chr6:150644948-150644949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75277805	chr6:150644951-150644952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75759858	chr6:150644952-150644953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77843033	chr6:150644955-150644956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76726492	chr6:150644957-150644958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77191831	chr6:150644958-150644959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76782364	chr6:150644962-150644963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77236813	chr6:150644964-150644965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78974853	chr6:150644965-150644966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77280828	chr6:150644968-150644969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141451013	chr6:150644969-150644970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74492716	chr6:150644970-150644971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375771113	chr6:150644971-150644972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183387927	chr6:150644978-150644979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530133723	chr6:150644979-150644980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549790619	chr6:150644991-150644992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563325784	chr6:150645001-150645002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111659990	chr6:150645009-150645010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571180575	chr6:150645019-150645020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566153503	chr6:150645038-150645039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113424037	chr6:150645065-150645066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548494704	chr6:150645109-150645110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146426003	chr6:150645115-150645116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543973068	chr6:150645149-150645150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537130215	chr6:150645181-150645182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115513539	chr6:150645205-150645206	Enhancers ZNF genes & repeats Weak transcription	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
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
Pancreatic cancer	17952125	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150641200-150645000	Enhancers	K562	blood
2	chr6:150641800-150644400	Weak transcription	Left Ventricle	heart
3	chr6:150642000-150646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:150642000-150648200	Weak transcription	Aorta	Aorta
5	chr6:150642000-150648400	Weak transcription	Right Ventricle	heart
6	chr6:150642600-150646400	Enhancers	Fetal Muscle Leg	muscle
7	chr6:150642600-150647400	Enhancers	Psoas Muscle	Psoas
8	chr6:150642800-150644800	Enhancers	Placenta	Placenta
9	chr6:150642800-150646600	Enhancers	Adipose Nuclei	Adipose
10	chr6:150643200-150644800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:150643200-150646200	Enhancers	Lung	lung
12	chr6:150643400-150644600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:150643600-150645800	Weak transcription	Spleen	Spleen
14	chr6:150643600-150646800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:150643800-150648400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:150644000-150644600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:150644200-150646400	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:150644200-150646800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:150644400-150644800	Enhancers	Left Ventricle	heart
20	chr6:150644600-150645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:150644800-150646000	Weak transcription	Left Ventricle	heart
22	chr6:150645000-150647800	Weak transcription	K562	blood
23	chr6:150645200-150645600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:150645200-150645600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:150645200-150645600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:150645200-150646400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:150645200-150646800	Enhancers	HMEC	breast
28	chr6:150645200-150647200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:150645400-150647000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:150645600-150646400	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:150645600-150646400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:150645600-150646600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:150645600-150646800	Enhancers	NHEK	skin
34	chr6:150645600-150647200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:150645600-150647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:150645600-150663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:150645800-150646200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:150645800-150646400	Enhancers	Spleen	Spleen
39	chr6:150645800-150646600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:150646000-150646400	Enhancers	Left Ventricle	heart
41	chr6:150646200-150646400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:150646200-150646400	Enhancers	Stomach Mucosa	stomach
43	chr6:150646200-150646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:150646200-150648600	Weak transcription	Lung	lung
45	chr6:150646400-150648400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:150646400-150648400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:150646400-150648400	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:150646400-150648600	Weak transcription	Left Ventricle	heart
49	chr6:150646800-150647800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:150646800-150647800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links