Variant report

Variant	nsv554746
Chromosome Location	chr11:54943676-55006534
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	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

Extended variants
information (count: 4298 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4298 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35563115	chr11:54943676-54943677	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191480948	chr11:54943688-54943689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183584591	chr11:54943700-54943701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2571202	chr11:54943722-54943723	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138435393	chr11:54943740-54943741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188522298	chr11:54943742-54943743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191388557	chr11:54943750-54943751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558273310	chr11:54943754-54943755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576429041	chr11:54943764-54943765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536911342	chr11:54943809-54943810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11532057	chr11:54943812-54943813	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112332055	chr11:54943819-54943820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138428408	chr11:54943828-54943829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143726950	chr11:54943837-54943838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144699658	chr11:54943846-54943847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77646218	chr11:54943874-54943875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556870425	chr11:54943880-54943881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146983300	chr11:54943893-54943894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201876845	chr11:54943904-54943905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374521815	chr11:54943907-54943908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576026184	chr11:54943908-54943909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111342700	chr11:54943910-54943911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368918845	chr11:54943921-54943922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112082975	chr11:54943923-54943924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113841762	chr11:54943925-54943926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386753633	chr11:54943926-54943927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201146274	chr11:54943930-54943931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202037922	chr11:54943931-54943932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112407536	chr11:54943933-54943934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373168688	chr11:54943935-54943936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2196192	chr11:54943938-54943939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370515667	chr11:54943939-54943940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200520857	chr11:54943943-54943944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111690232	chr11:54943945-54943946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113097996	chr11:54943950-54943951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545075070	chr11:54943965-54943966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546315410	chr11:54943975-54943976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564574145	chr11:54943978-54943979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76276121	chr11:54943987-54943988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201583821	chr11:54943997-54943998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541863276	chr11:54944018-54944019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2266395	chr11:54944025-54944026	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568706196	chr11:54944045-54944046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529536016	chr11:54944057-54944058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183219837	chr11:54944058-54944059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569102100	chr11:54944059-54944060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572457375	chr11:54944076-54944077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141401893	chr11:54944095-54944096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558185314	chr11:54944112-54944113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11227595	chr11:54944137-54944138	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
2	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
6	chr11:54944200-54944400	Enhancers	Aorta	Aorta
7	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
9	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
13	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
14	chr11:54944200-54944600	Active TSS	Ovary	ovary
15	chr11:54944200-54944600	Active TSS	Right Atrium	heart
16	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
23	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:54950400-54950600	ZNF genes & repeats	Stomach Mucosa	stomach
25	chr11:54950400-54950800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr11:54950400-54950800	Active TSS	Ovary	ovary
27	chr11:54950400-54950800	Active TSS	Right Atrium	heart
28	chr11:54950400-54951000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:54950400-54951000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
30	chr11:54950800-54951800	Weak transcription	Right Atrium	heart
31	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver
39	chr11:54958000-54959000	Active TSS	Right Atrium	heart
40	chr11:54960800-54961600	Weak transcription	NH-A	brain
41	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
48	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
49	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
50	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links