Variant report

Variant	nsv519235
Chromosome Location	chr5:114404806-114407661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114234220..114234829-chr5:114405733..114406270,2	MCF-7	breast:
2	chr5:113785791..113786752-chr5:114405185..114405973,2	MCF-7	breast:
3	chr5:114139185..114139978-chr5:114404825..114405439,2	MCF-7	breast:
4	chr5:113014328..113015260-chr5:114404740..114405272,3	K562	blood:
5	chr5:114404877..114405516-chr5:114433463..114434454,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4705516	chr5:114404806-114404807	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567392381	chr5:114404823-114404824	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557637982	chr5:114404829-114404830	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs148036860	chr5:114404833-114404834	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140480910	chr5:114404840-114404841	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541345656	chr5:114404844-114404845	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550040368	chr5:114404868-114404869	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191979608	chr5:114404880-114404881	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374495316	chr5:114404928-114404929	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75138021	chr5:114404937-114404938	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564828934	chr5:114404973-114404974	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533477548	chr5:114405012-114405013	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150435107	chr5:114405028-114405029	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553196295	chr5:114405044-114405045	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543959401	chr5:114405070-114405071	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545226676	chr5:114405076-114405077	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561055668	chr5:114405130-114405131	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117892620	chr5:114405131-114405132	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10057474	chr5:114405133-114405134	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs386691367	chr5:114405174-114405175	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563619180	chr5:114405217-114405218	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532366382	chr5:114405287-114405288	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117194226	chr5:114405320-114405321	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565764397	chr5:114405355-114405356	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185361942	chr5:114405430-114405431	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190238320	chr5:114405431-114405432	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs182518700	chr5:114405451-114405452	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73780021	chr5:114405472-114405473	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185862230	chr5:114405502-114405503	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571109903	chr5:114405543-114405544	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs138349610	chr5:114405566-114405567	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558585956	chr5:114405582-114405583	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572113194	chr5:114405592-114405593	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112804007	chr5:114405594-114405595	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554706658	chr5:114405618-114405619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574516852	chr5:114405628-114405629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149944893	chr5:114405646-114405647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370326396	chr5:114405655-114405656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35575013	chr5:114405657-114405658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56413505	chr5:114405687-114405688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563431971	chr5:114405691-114405692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532414200	chr5:114405709-114405710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60764006	chr5:114405715-114405716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs55695948	chr5:114405718-114405719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188332186	chr5:114405730-114405731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542230902	chr5:114405762-114405763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548249492	chr5:114405781-114405782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11951180	chr5:114405806-114405807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139013104	chr5:114405807-114405808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149431441	chr5:114405870-114405871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114404000-114405600	ZNF genes & repeats	GM12878-XiMat	blood
2	chr5:114404200-114405000	Active TSS	Dnd41	blood
3	chr5:114404400-114405000	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:114404600-114405000	Enhancers	Liver	Liver
5	chr5:114404600-114405400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:114404600-114405600	Enhancers	A549	lung
7	chr5:114404800-114405000	Enhancers	HepG2	liver
8	chr5:114405200-114405400	Enhancers	Fetal Muscle Leg	muscle
9	chr5:114405200-114405600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:114405200-114405600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:114405200-114405600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:114405400-114405600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:114405400-114405800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:114405400-114406600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:114405600-114407600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:114405600-114408200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:114405600-114408200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:114405800-114408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:114406600-114406800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:114406600-114408200	Weak transcription	Fetal Brain Male	brain
21	chr5:114407400-114409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:114407600-114408800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:114407600-114409200	Enhancers	HUES6 Cell Line	embryonic stem cell

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