Variant report

Variant	esv3437705
Chromosome Location	chr1:210259829-210264027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210263054..210265435-chr1:210545571..210548117,2	MCF-7	breast:
2	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs548754704	chr1:210259835-210259836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114497082	chr1:210259848-210259849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528391955	chr1:210259873-210259874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571937713	chr1:210259875-210259876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546443476	chr1:210259881-210259882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115106461	chr1:210259882-210259883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12073617	chr1:210259974-210259975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140279882	chr1:210260003-210260004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181246118	chr1:210260049-210260050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184271521	chr1:210260052-210260053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555214234	chr1:210260136-210260137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74225469	chr1:210260207-210260208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534496872	chr1:210260225-210260226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188755660	chr1:210260309-210260310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369101761	chr1:210260396-210260397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372567720	chr1:210260399-210260400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532121898	chr1:210260402-210260403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544574730	chr1:210260420-210260421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375657700	chr1:210260425-210260426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562877892	chr1:210260453-210260454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs846547	chr1:210260460-210260461	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574989722	chr1:210260488-210260489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541893790	chr1:210260506-210260507	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543830361	chr1:210260532-210260533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111237028	chr1:210260552-210260553	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115162329	chr1:210260553-210260554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528231617	chr1:210260587-210260588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181485194	chr1:210260588-210260589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565181702	chr1:210260592-210260593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532038375	chr1:210260615-210260616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186119900	chr1:210260645-210260646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150383355	chr1:210260674-210260675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529833895	chr1:210260733-210260734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548258066	chr1:210260737-210260738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12751160	chr1:210260765-210260766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12736605	chr1:210260782-210260783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12736613	chr1:210260783-210260784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12736618	chr1:210260797-210260798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12751186	chr1:210260799-210260800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12736733	chr1:210260819-210260820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12732578	chr1:210260820-210260821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567077256	chr1:210260828-210260829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12751312	chr1:210260841-210260842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12750115	chr1:210260846-210260847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12751320	chr1:210260855-210260856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540436157	chr1:210260866-210260867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12736888	chr1:210260923-210260924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117140609	chr1:210260958-210260959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547768417	chr1:210261047-210261048	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375101614	chr1:210261053-210261054	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210248600-210261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:210248600-210273200	Weak transcription	Fetal Brain Female	brain
3	chr1:210250400-210263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210250800-210260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:210250800-210278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:210251400-210260200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210257800-210275000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:210260200-210263600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210260400-210260600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:210260600-210285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:210261000-210261200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:210261000-210261200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:210261200-210261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:210262000-210279600	Weak transcription	NH-A	brain
15	chr1:210263000-210263200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:210263200-210263800	Active TSS	A549	lung
17	chr1:210263200-210269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:210263600-210267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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