Variant report

Variant	esv3444016
Chromosome Location	chr6:106620859-106624057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106602703..106605066-chr6:106622142..106624614,2	MCF-7	breast:
2	chr6:106616343..106618346-chr6:106620512..106623483,2	K562	blood:
3	chr6:106622833..106624586-chr6:106626534..106629325,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138868340	chr6:106620880-106620881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368338386	chr6:106620896-106620897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527655824	chr6:106620900-106620901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190139803	chr6:106620915-106620916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547923624	chr6:106620941-106620942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543052311	chr6:106620970-106620971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142089349	chr6:106620988-106620989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570914114	chr6:106621017-106621018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11441892	chr6:106621018-106621019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12530429	chr6:106621168-106621169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539689114	chr6:106621191-106621192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572125209	chr6:106621201-106621202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541217701	chr6:106621233-106621234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376167558	chr6:106621237-106621238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533656255	chr6:106621243-106621244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544173944	chr6:106621245-106621246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563652011	chr6:106621296-106621297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547260274	chr6:106621349-106621350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529342151	chr6:106621437-106621438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549374414	chr6:106621470-106621471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76244762	chr6:106621504-106621505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528591686	chr6:106621507-106621508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111353326	chr6:106621508-106621509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184808479	chr6:106621514-106621515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539347963	chr6:106621520-106621521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556074092	chr6:106621528-106621529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556070711	chr6:106621557-106621558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569627717	chr6:106621587-106621588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145878630	chr6:106621615-106621616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376870892	chr6:106621633-106621634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369946901	chr6:106621701-106621702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535074418	chr6:106621729-106621730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189417727	chr6:106621785-106621786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572005029	chr6:106621821-106621822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376375864	chr6:106621832-106621833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373025142	chr6:106621915-106621916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569965215	chr6:106621920-106621921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558380148	chr6:106621949-106621950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372535869	chr6:106621969-106621970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76193219	chr6:106621990-106621991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149469781	chr6:106622010-106622011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114081905	chr6:106622024-106622025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180725889	chr6:106622058-106622059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542609855	chr6:106622111-106622112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370201871	chr6:106622226-106622227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559708566	chr6:106622269-106622270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528571121	chr6:106622276-106622277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376135855	chr6:106622288-106622289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142773122	chr6:106622299-106622300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532925569	chr6:106622320-106622321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Burkitt''s lymphoma	20823134	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106621000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:106612400-106628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:106613000-106621000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:106613200-106633400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:106614200-106629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:106615600-106621000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:106616200-106621000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:106616200-106621000	Weak transcription	Dnd41	blood
10	chr6:106616200-106629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
12	chr6:106617000-106629400	Weak transcription	HSMM	muscle
13	chr6:106620400-106621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:106620800-106621600	Enhancers	GM12878-XiMat	blood
15	chr6:106621000-106621400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:106621000-106622000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:106621000-106622000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:106621000-106622000	Enhancers	Dnd41	blood
19	chr6:106621000-106622200	Enhancers	Primary T cells from cord blood	blood
20	chr6:106621000-106622200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:106621000-106622200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:106621000-106622200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:106621000-106622200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:106621000-106622200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:106621000-106622200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:106621400-106621600	Enhancers	Small Intestine	intestine
27	chr6:106621400-106626200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:106621600-106626600	Weak transcription	GM12878-XiMat	blood
29	chr6:106621800-106625400	Weak transcription	Small Intestine	intestine
30	chr6:106622000-106622800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:106622000-106624400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:106622000-106626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:106622000-106626400	Weak transcription	Dnd41	blood
34	chr6:106622200-106624800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:106622200-106626000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:106622200-106626000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:106622200-106626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:106622200-106626600	Weak transcription	Primary T cells from cord blood	blood
39	chr6:106622200-106626600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:106622800-106625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:106623200-106624000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:106623400-106623600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:106623600-106633400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:106624000-106625400	Enhancers	Fetal Intestine Small	intestine
45	chr6:106624000-106626600	Weak transcription	Primary monocytes fromperipheralblood	blood

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