Variant report

Variant	nsv599409
Chromosome Location	chr5:113079354-113184211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
2	chr5:113017961..113018794-chr5:113092959..113093884,2	MCF-7	breast:
3	chr5:113014588..113015273-chr5:113139880..113140620,2	MCF-7	breast:
4	chr5:113017877..113018838-chr5:113139684..113140688,6	MCF-7	breast:
5	chr5:113017956..113018778-chr5:113092950..113093675,3	MCF-7	breast:
6	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:

Extended variants
information (count: 2223 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2223 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11740330	chr5:113079354-113079355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542306258	chr5:113079373-113079374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149146646	chr5:113079374-113079375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530688621	chr5:113079404-113079405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567015769	chr5:113079406-113079407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1384286	chr5:113079424-113079425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144619557	chr5:113079445-113079446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369761170	chr5:113079450-113079451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549435174	chr5:113079451-113079452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528356871	chr5:113079468-113079469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546533221	chr5:113079469-113079470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147913604	chr5:113079473-113079474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182555970	chr5:113079486-113079487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372605027	chr5:113079490-113079491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531898511	chr5:113079505-113079506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540589224	chr5:113079526-113079527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113894842	chr5:113079527-113079528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568875792	chr5:113079536-113079537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73250348	chr5:113079538-113079539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537624619	chr5:113079575-113079576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563760768	chr5:113079639-113079640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559175848	chr5:113079640-113079641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577546799	chr5:113079657-113079658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73250351	chr5:113079682-113079683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78503406	chr5:113079745-113079746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574728816	chr5:113079749-113079750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532792127	chr5:113079751-113079752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563765422	chr5:113079773-113079774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575669821	chr5:113079779-113079780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543297388	chr5:113079814-113079815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187252667	chr5:113079847-113079848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563932195	chr5:113079861-113079862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528318472	chr5:113079892-113079893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191968622	chr5:113079915-113079916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34077398	chr5:113079965-113079966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71967979	chr5:113079966-113079967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5870558	chr5:113079973-113079974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141896468	chr5:113079992-113079993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3069953	chr5:113079993-113079994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79046800	chr5:113079994-113079995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79213827	chr5:113079997-113079998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76451392	chr5:113079998-113079999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77244533	chr5:113079999-113080000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7703513	chr5:113080012-113080013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183065397	chr5:113080052-113080053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528846724	chr5:113080105-113080106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188819336	chr5:113080119-113080120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7703664	chr5:113080151-113080152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376364813	chr5:113080232-113080233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551540683	chr5:113080254-113080255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	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
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113079200-113079800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:113079800-113083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:113083600-113084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:113083600-113085000	Enhancers	HUVEC	blood vessel
5	chr5:113083800-113085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:113083800-113085400	Enhancers	NHEK	skin
7	chr5:113084000-113085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:113084800-113085800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:113085000-113085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:113085000-113086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:113085200-113085600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:113085200-113085600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:113085400-113086600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:113085600-113086600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:113085600-113086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:113086600-113086800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:113086600-113086800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:113086800-113087000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:113090800-113092200	Enhancers	Fetal Lung	lung
20	chr5:113091200-113091400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:113094800-113096000	Enhancers	GM12878-XiMat	blood
22	chr5:113095800-113096400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:113095800-113096600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:113095800-113097200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:113096000-113096400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:113096000-113096400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:113096000-113096800	Weak transcription	GM12878-XiMat	blood
28	chr5:113096200-113096800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:113096800-113097800	Enhancers	GM12878-XiMat	blood
30	chr5:113097200-113097600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:113097200-113097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:113097800-113098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:113099800-113111800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:113102200-113102600	ZNF genes & repeats	Liver	Liver
35	chr5:113106200-113106600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:113106200-113106800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:113106200-113107000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:113106200-113107400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:113106400-113106600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:113106400-113106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:113106400-113107600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:113106600-113106800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:113106800-113111400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:113106800-113111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:113107000-113111600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:113107200-113107400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:113107200-113107600	Enhancers	Ovary	ovary
48	chr5:113107400-113109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:113109600-113110000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:113110000-113111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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