Variant report

Variant	esv3358761
Chromosome Location	chr6:143516563-143517092
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:143500149..143502604-chr6:143514683..143517132,3	K562	blood:
2	chr6:143514687..143516839-chr6:143523728..143526695,2	MCF-7	breast:
3	chr6:143515436..143519922-chr6:143520164..143527026,9	K562	blood:
4	chr6:143500149..143502604-chr6:143514683..143516701,2	K562	blood:
5	chr6:143367740..143370154-chr6:143514749..143517597,2	K562	blood:
6	chr6:143516988..143519782-chr6:143599949..143602747,2	K562	blood:
7	chr6:143515015..143517690-chr6:143543085..143544617,2	K562	blood:

No data

Extended variants
information (count: 21 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563628067	chr6:143516644-143516645	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530938339	chr6:143516670-143516671	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369291955	chr6:143516680-143516681	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184536440	chr6:143516687-143516688	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571123555	chr6:143516720-143516721	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189214892	chr6:143516737-143516738	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374166142	chr6:143516742-143516743	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150321447	chr6:143516770-143516771	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181802661	chr6:143516771-143516772	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556639405	chr6:143516784-143516785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34713328	chr6:143516792-143516793	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138906270	chr6:143516811-143516812	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539036144	chr6:143516812-143516813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149399356	chr6:143516817-143516818	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541246955	chr6:143516818-143516819	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186394732	chr6:143516918-143516919	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555511449	chr6:143516961-143516962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144847945	chr6:143516979-143516980	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577660562	chr6:143517022-143517023	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73781111	chr6:143517090-143517091	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77185628	chr6:143517091-143517092	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143458800-143529200	Weak transcription	Primary T cells from cord blood	blood
2	chr6:143479600-143534600	Weak transcription	Gastric	stomach
3	chr6:143484400-143519800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:143487000-143516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:143487600-143518000	Weak transcription	Fetal Kidney	kidney
6	chr6:143497400-143518600	Weak transcription	Pancreas	Pancrea
7	chr6:143497800-143522800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:143498000-143517800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:143498000-143526000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:143499200-143525400	Weak transcription	Esophagus	oesophagus
11	chr6:143499200-143534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:143499400-143516800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:143499400-143520800	Weak transcription	Lung	lung
14	chr6:143501400-143516600	Weak transcription	Psoas Muscle	Psoas
15	chr6:143501400-143534800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:143502200-143517000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:143504800-143521800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:143505600-143534600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:143506600-143518400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:143506800-143516600	Weak transcription	Left Ventricle	heart
21	chr6:143507000-143517600	Weak transcription	Colonic Mucosa	Colon
22	chr6:143509000-143516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:143509000-143518800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:143509600-143516600	Weak transcription	Ovary	ovary
25	chr6:143509600-143517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:143509600-143517800	Weak transcription	Fetal Lung	lung
27	chr6:143509600-143518000	Weak transcription	NH-A	brain
28	chr6:143509600-143523200	Weak transcription	Adipose Nuclei	Adipose
29	chr6:143509600-143524400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:143509800-143519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:143509800-143523800	Weak transcription	Aorta	Aorta
32	chr6:143511400-143517400	Weak transcription	HepG2	liver
33	chr6:143511400-143518800	Weak transcription	Osteobl	bone
34	chr6:143511600-143518600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:143511800-143517800	Weak transcription	Fetal Intestine Large	intestine
36	chr6:143513800-143520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:143514200-143516600	Weak transcription	Fetal Intestine Small	intestine
38	chr6:143514200-143517400	Weak transcription	NHEK	skin
39	chr6:143514200-143545400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:143514400-143545200	Weak transcription	HMEC	breast
41	chr6:143515000-143521000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:143515800-143518800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:143515800-143520200	Genic enhancers	K562	blood
44	chr6:143516000-143516800	Weak transcription	Fetal Stomach	stomach
45	chr6:143516000-143518400	Enhancers	HUVEC	blood vessel
46	chr6:143516000-143545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:143516200-143517200	Enhancers	Fetal Muscle Leg	muscle
48	chr6:143516200-143517600	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:143516400-143516800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:143516400-143525600	Weak transcription	Liver	Liver

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