Variant report

Variant	nsv462314
Chromosome Location	chr5:99088514-99183797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
2	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
3	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
4	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
5	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
6	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:

Extended variants
information (count: 700 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552682492	chr5:99098806-99098807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570829367	chr5:99098823-99098824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12513580	chr5:99098824-99098825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200168936	chr5:99098840-99098841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556438894	chr5:99098842-99098843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201504522	chr5:99098844-99098845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62375161	chr5:99098858-99098859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138701200	chr5:99098880-99098881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114071776	chr5:99098891-99098892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114742899	chr5:99098892-99098893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571687932	chr5:99098916-99098917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545367985	chr5:99098926-99098927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564124196	chr5:99098927-99098928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576015307	chr5:99098965-99098966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12513600	chr5:99098969-99098970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542504150	chr5:99098981-99098982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182086152	chr5:99099028-99099029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575982424	chr5:99099079-99099080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529140582	chr5:99099081-99099082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79491244	chr5:99099113-99099114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543426116	chr5:99099130-99099131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565206711	chr5:99099141-99099142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78535578	chr5:99099150-99099151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552567354	chr5:99099167-99099168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570832304	chr5:99099214-99099215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532616585	chr5:99099235-99099236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373223293	chr5:99099266-99099267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531660377	chr5:99099310-99099311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111386824	chr5:99099361-99099362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12521807	chr5:99099374-99099375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559885717	chr5:99099399-99099400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535680971	chr5:99099412-99099413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373438169	chr5:99099445-99099446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201707778	chr5:99099449-99099450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530362446	chr5:99099453-99099454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77353103	chr5:99099454-99099455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539756917	chr5:99099471-99099472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557425155	chr5:99099495-99099496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61548974	chr5:99099542-99099543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543144399	chr5:99099638-99099639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112752477	chr5:99099648-99099649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185104297	chr5:99099658-99099659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189620286	chr5:99099737-99099738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142754144	chr5:99099758-99099759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144772096	chr5:99099760-99099761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545291002	chr5:99099771-99099772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182788023	chr5:99106410-99106411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570939551	chr5:99106435-99106436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139826066	chr5:99106471-99106472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186379518	chr5:99106500-99106501	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99098800-99099600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:99099000-99099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:99099000-99099600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:99099000-99099800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:99106400-99107600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:99106400-99109400	Enhancers	HUVEC	blood vessel
7	chr5:99106600-99108000	Enhancers	NHEK	skin
8	chr5:99107200-99107600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:99107200-99110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:99107400-99107800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:99107600-99108000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:99108800-99109600	Enhancers	Fetal Lung	lung
15	chr5:99109800-99110400	Enhancers	Fetal Heart	heart
16	chr5:99129600-99130200	Enhancers	HUVEC	blood vessel
17	chr5:99130000-99131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:99130200-99131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:99130400-99131000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:99150000-99150400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:99153600-99159400	Weak transcription	Pancreas	Pancrea
22	chr5:99159400-99159600	ZNF genes & repeats	Pancreas	Pancrea
23	chr5:99161000-99161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:99161400-99161800	Enhancers	HUVEC	blood vessel
25	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain
26	chr5:99178600-99178800	Enhancers	Pancreas	Pancrea
27	chr5:99178800-99179000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:99179000-99179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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