Variant report

Variant	esv3495891
Chromosome Location	chr9:71894099-71898637
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	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
2	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117387212	chr9:71894137-71894138	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547924409	chr9:71894148-71894149	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115642877	chr9:71894153-71894154	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536679202	chr9:71894169-71894170	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558545098	chr9:71894198-71894199	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2309417	chr9:71894227-71894228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576411525	chr9:71894241-71894242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139809024	chr9:71894244-71894245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12379943	chr9:71894268-71894269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574725606	chr9:71894298-71894299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559012831	chr9:71894303-71894304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542029707	chr9:71894373-71894374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561395321	chr9:71894377-71894378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78178788	chr9:71894393-71894394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190855750	chr9:71894434-71894435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548814858	chr9:71894452-71894453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184096499	chr9:71894477-71894478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117083375	chr9:71894507-71894508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370158867	chr9:71894522-71894523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1890638	chr9:71894523-71894524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368401146	chr9:71894576-71894577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1890637	chr9:71894601-71894602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186594586	chr9:71894630-71894631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566297839	chr9:71894660-71894661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1890636	chr9:71894691-71894692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537057254	chr9:71894693-71894694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1890635	chr9:71894729-71894730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78573770	chr9:71894755-71894756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2309416	chr9:71894767-71894768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570431699	chr9:71894835-71894836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534313227	chr9:71894933-71894934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57032278	chr9:71894955-71894956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140354306	chr9:71894988-71894989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191958728	chr9:71895013-71895014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150341807	chr9:71895018-71895019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144993439	chr9:71895025-71895026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76738336	chr9:71895040-71895041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4271031	chr9:71895047-71895048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558778364	chr9:71895104-71895105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577211148	chr9:71895271-71895272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117576926	chr9:71895318-71895319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369480251	chr9:71895335-71895336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56108228	chr9:71895369-71895370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542084087	chr9:71895425-71895426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55763820	chr9:71895545-71895546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367611205	chr9:71895717-71895718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563550172	chr9:71895911-71895912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56030094	chr9:71895950-71895951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183536732	chr9:71895990-71895991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552297534	chr9:71896077-71896078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71892000-71894200	Weak transcription	Fetal Heart	heart
2	chr9:71893400-71894200	ZNF genes & repeats	GM12878-XiMat	blood
3	chr9:71894000-71894400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr9:71894200-71894800	Enhancers	Fetal Heart	heart
5	chr9:71894200-71895000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr9:71894400-71894600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:71894800-71895000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr9:71894800-71895000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:71894800-71895000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:71894800-71895200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:71895000-71897400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:71895000-71898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:71895200-71897400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:71897400-71897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:71897400-71897800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:71897400-71898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:71897400-71899000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:71897400-71899000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:71897400-71899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:71897600-71899000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:71897600-71899000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:71897800-71898200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:71897800-71898200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:71898000-71898200	Bivalent Enhancer	HUVEC	blood vessel
25	chr9:71898000-71898400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:71898000-71899000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:71898200-71898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:71898200-71898400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:71898200-71898600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:71898400-71900400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:71898600-71898800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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