Variant report

Variant	esv1827284
Chromosome Location	chr2:172997770-173006567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172958416..172960183-chr2:172997727..172999543,2	MCF-7	breast:
2	chr2:172989427..172991394-chr2:172995614..172998295,2	K562	blood:
3	chr2:172999674..173002716-chr2:173011251..173014037,3	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1843758	chr2:172997770-172997771	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559256001	chr2:172997774-172997775	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs138426543	chr2:172997812-172997813	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1971267	chr2:172997824-172997825	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149196404	chr2:172997827-172997828	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376449847	chr2:172997828-172997829	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112667418	chr2:172997835-172997836	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184895150	chr2:172997854-172997855	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536584841	chr2:172997890-172997891	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74382941	chr2:172997974-172997975	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78000873	chr2:172997976-172997977	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553099170	chr2:172997977-172997978	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577932351	chr2:172997983-172997984	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538987961	chr2:172998009-172998010	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146689335	chr2:172998036-172998037	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs575945193	chr2:172998040-172998041	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs543236752	chr2:172998078-172998079	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569978287	chr2:172998088-172998089	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs7590382	chr2:172998127-172998128	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76449878	chr2:172998164-172998165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs541080675	chr2:172998175-172998176	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs139354749	chr2:172998180-172998181	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs558643269	chr2:172998190-172998191	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs143314928	chr2:172998191-172998192	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs563231485	chr2:172998193-172998194	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs530662680	chr2:172998217-172998218	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs189470950	chr2:172998218-172998219	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147468180	chr2:172998242-172998243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs76325337	chr2:172998251-172998252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs191258526	chr2:172998267-172998268	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs571583423	chr2:172998285-172998286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs79496079	chr2:172998351-172998352	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148083157	chr2:172998353-172998354	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs569569215	chr2:172998398-172998399	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs536901801	chr2:172998407-172998408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184405813	chr2:172998430-172998431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575658137	chr2:172998432-172998433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573352625	chr2:172998459-172998460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7590815	chr2:172998463-172998464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553723902	chr2:172998464-172998465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7590626	chr2:172998470-172998471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7604615	chr2:172998497-172998498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544600400	chr2:172998534-172998535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562896370	chr2:172998540-172998541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530721600	chr2:172998553-172998554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372989777	chr2:172998557-172998558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7604737	chr2:172998562-172998563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146241778	chr2:172998574-172998575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189730569	chr2:172998575-172998576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546816326	chr2:172998628-172998629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172995800-172999400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:172996400-172998400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:172996800-172998000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr2:172996800-172998200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:172996800-172998400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:172997200-172998200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:172997200-172998400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:172997400-172998800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:172997600-172997800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr2:172997600-172998000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:172997800-172998400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr2:172998000-172999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:172998200-172999200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:172998400-172999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:172998800-172999200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:172999000-172999200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:172999200-172999400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:172999200-172999400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:172999200-172999400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:172999200-172999400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:173001800-173002200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:173002200-173012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:173004400-173007200	Weak transcription	Fetal Brain Male	brain
24	chr2:173006400-173006800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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