Variant report

Variant	esv3452051
Chromosome Location	chr6:121639003-121641201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:121639940..121640818-chr6:121721671..121722649,4	MCF-7	breast:
2	chr6:121634382..121637140-chr6:121639253..121640761,2	K562	blood:
3	chr6:121641150..121642035-chr6:121721678..121722184,2	MCF-7	breast:
4	chr6:121630562..121632167-chr6:121640292..121642248,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35526604	chr6:121639067-121639068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563219135	chr6:121639074-121639075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78286115	chr6:121639109-121639110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112768483	chr6:121639111-121639112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565206216	chr6:121639128-121639129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184899727	chr6:121639151-121639152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559407983	chr6:121639180-121639181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528128939	chr6:121639194-121639195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201744762	chr6:121639224-121639225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144031009	chr6:121639230-121639231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115943367	chr6:121639279-121639280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76929088	chr6:121639285-121639286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559172058	chr6:121639312-121639313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76029943	chr6:121639434-121639435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551326415	chr6:121639442-121639443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571134109	chr6:121639449-121639450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17083405	chr6:121639472-121639473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546828944	chr6:121639498-121639499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145743070	chr6:121639519-121639520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187184272	chr6:121639573-121639574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76745190	chr6:121639593-121639594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191255773	chr6:121639616-121639617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36001937	chr6:121639621-121639622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147784246	chr6:121639769-121639770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375409225	chr6:121639858-121639859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552407823	chr6:121639859-121639860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148389473	chr6:121639872-121639873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183751816	chr6:121639873-121639874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556852121	chr6:121639884-121639885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139254178	chr6:121639907-121639908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78088208	chr6:121639950-121639951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553572460	chr6:121639951-121639952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552939579	chr6:121639992-121639993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371762855	chr6:121640013-121640014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189248954	chr6:121640017-121640018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541595676	chr6:121640034-121640035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77825378	chr6:121640055-121640056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113315549	chr6:121640061-121640062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141221431	chr6:121640075-121640076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368194709	chr6:121640120-121640121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78935400	chr6:121640129-121640130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182482704	chr6:121640146-121640147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185004457	chr6:121640203-121640204	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146946731	chr6:121640223-121640224	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35471775	chr6:121640262-121640263	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137984433	chr6:121640265-121640266	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34067236	chr6:121640298-121640299	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17702405	chr6:121640302-121640303	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549087143	chr6:121640310-121640311	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80184355	chr6:121640355-121640356	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
4	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
6	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:121604000-121645200	Weak transcription	Fetal Kidney	kidney
8	chr6:121604400-121642000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:121604800-121653000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:121606600-121655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:121611000-121640400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:121611200-121655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:121613400-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:121614200-121640400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:121615600-121655000	Weak transcription	Pancreas	Pancrea
16	chr6:121616200-121655000	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:121617200-121651600	Weak transcription	GM12878-XiMat	blood
18	chr6:121619000-121640400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:121620200-121640400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:121622200-121654600	Weak transcription	Fetal Thymus	thymus
21	chr6:121622600-121655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:121622800-121640400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:121622800-121654800	Weak transcription	Brain Germinal Matrix	brain
24	chr6:121624200-121644800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:121628200-121640400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:121629800-121648400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:121630600-121651600	Weak transcription	K562	blood
28	chr6:121631800-121644800	Weak transcription	HSMMtube	muscle
29	chr6:121632000-121640400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:121632000-121640400	Weak transcription	NH-A	brain
31	chr6:121632000-121640400	Weak transcription	Osteobl	bone
32	chr6:121632000-121654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:121632200-121640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:121632200-121641600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:121632200-121653800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:121632200-121654200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:121632200-121655000	Weak transcription	HSMM	muscle
38	chr6:121632400-121640400	Weak transcription	Brain Angular Gyrus	brain
39	chr6:121632400-121649800	Weak transcription	NHLF	lung
40	chr6:121632400-121654600	Weak transcription	HMEC	breast
41	chr6:121632800-121655000	Weak transcription	Lung	lung
42	chr6:121633200-121639600	Strong transcription	Dnd41	blood
43	chr6:121633800-121643200	Weak transcription	Fetal Lung	lung
44	chr6:121634000-121644200	Weak transcription	Gastric	stomach
45	chr6:121634600-121654800	Weak transcription	Fetal Brain Male	brain
46	chr6:121635000-121653800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:121635200-121655200	Weak transcription	Aorta	Aorta
48	chr6:121635600-121642200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:121635800-121640400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:121636000-121654800	Weak transcription	Rectal Mucosa Donor 31	rectum

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