Variant report

Variant	esv3433172
Chromosome Location	chr6:423627-425750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:417285..418861-chr6:423980..426711,2	MCF-7	breast:
2	chr6:414625..416916-chr6:423887..426653,2	K562	blood:
3	chr6:423338..426540-chr6:426983..429484,4	K562	blood:
4	chr6:423651..426964-chr6:426983..431390,3	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561066410	chr6:423628-423629	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs184688483	chr6:423638-423639	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs540275587	chr6:423677-423678	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs62389425	chr6:423680-423681	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs376510457	chr6:423694-423695	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189205071	chr6:423695-423696	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552822750	chr6:423738-423739	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs538191508	chr6:423770-423771	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs533320794	chr6:423792-423793	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs34909226	chr6:423803-423804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs569417656	chr6:423822-423823	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs73371402	chr6:423874-423875	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548755557	chr6:423887-423888	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs567379720	chr6:423928-423929	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs139249724	chr6:423936-423937	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs552741389	chr6:423938-423939	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs55710308	chr6:423988-423989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538590702	chr6:424009-424010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558829825	chr6:424010-424011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377259133	chr6:424039-424040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141545243	chr6:424114-424115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544004353	chr6:424119-424120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554300763	chr6:424163-424164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550351368	chr6:424168-424169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574629844	chr6:424193-424194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540715686	chr6:424198-424199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560321807	chr6:424206-424207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138344588	chr6:424221-424222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545851784	chr6:424227-424228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116153396	chr6:424263-424264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371100263	chr6:424281-424282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532002797	chr6:424291-424292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548841987	chr6:424315-424316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185000071	chr6:424317-424318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529779354	chr6:424355-424356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113511423	chr6:424356-424357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112981134	chr6:424360-424361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75245619	chr6:424366-424367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9378809	chr6:424480-424481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533802415	chr6:424588-424589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189382931	chr6:424626-424627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576536922	chr6:424664-424665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181710738	chr6:424698-424699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186063217	chr6:424702-424703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576219894	chr6:424728-424729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190037624	chr6:424736-424737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181294516	chr6:424740-424741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186351137	chr6:424746-424747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558218502	chr6:424752-424753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541431772	chr6:424757-424758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:422000-424200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:422200-423800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:422200-423800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:422400-423800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr6:422400-423800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:422400-423800	Enhancers	HepG2	liver
7	chr6:422600-423800	Enhancers	GM12878-XiMat	blood
8	chr6:422800-428000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:423000-424200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:423200-423800	Enhancers	Lung	lung
11	chr6:423200-423800	Enhancers	NHLF	lung
12	chr6:423200-424000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:423200-424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:423200-425200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:423400-423800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:423400-424000	Enhancers	A549	lung
17	chr6:423600-423800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:423600-423800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:423600-424200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:423600-428000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:423800-424800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:423800-425000	Weak transcription	HepG2	liver
23	chr6:423800-425200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:423800-427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:423800-434400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:424000-425200	Weak transcription	A549	lung
27	chr6:424200-424800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:424200-425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:424800-425200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:424800-425400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:425000-425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:425000-425600	Enhancers	HepG2	liver
33	chr6:425200-425400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:425200-425400	Enhancers	A549	lung
35	chr6:425200-425600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:425200-425600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:425200-425600	Enhancers	K562	blood
38	chr6:425200-426800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:425400-429400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:425600-428000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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