Variant report

Variant	nsv521533
Chromosome Location	chr5:76092225-76100536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76083391..76086055-chr5:76095285..76096948,2	MCF-7	breast:
2	chr5:76094721..76097053-chr5:76101788..76104241,2	K562	blood:
3	chr5:76094082..76095930-chr5:76098926..76101541,2	K562	blood:
4	chr5:76094082..76095930-chr5:76098926..76101541,2	K562	blood:

Extended variants
information (count: 351 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs463466	chr5:76092225-76092226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77223652	chr5:76092259-76092260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538909800	chr5:76092279-76092280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73131671	chr5:76092285-76092286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537603045	chr5:76092344-76092345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552530975	chr5:76092345-76092346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368196574	chr5:76092363-76092364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576676884	chr5:76092365-76092366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551201835	chr5:76092506-76092507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112042376	chr5:76092556-76092557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536970499	chr5:76092605-76092606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62365098	chr5:76092617-76092618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573213904	chr5:76092638-76092639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372927931	chr5:76092639-76092640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2607351	chr5:76092687-76092688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs575342611	chr5:76092710-76092711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543166172	chr5:76092764-76092765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563520302	chr5:76092833-76092834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113677493	chr5:76092834-76092835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148568415	chr5:76092872-76092873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559083611	chr5:76092877-76092878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554755236	chr5:76092892-76092893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528133934	chr5:76092897-76092898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181049267	chr5:76092926-76092927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368039996	chr5:76092952-76092953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558874188	chr5:76093008-76093009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75743792	chr5:76093009-76093010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56830222	chr5:76093023-76093024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114468276	chr5:76093059-76093060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530647226	chr5:76093154-76093155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs615599	chr5:76093158-76093159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs635623	chr5:76093170-76093171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs615986	chr5:76093207-76093208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs185475366	chr5:76093208-76093209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566740876	chr5:76093229-76093230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369320829	chr5:76093249-76093250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373119476	chr5:76093290-76093291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190394777	chr5:76093302-76093303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs636150	chr5:76093314-76093315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs465629	chr5:76093345-76093346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182050841	chr5:76093346-76093347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556861804	chr5:76093360-76093361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573827191	chr5:76093369-76093370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs458591	chr5:76093374-76093375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs556844500	chr5:76093388-76093389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372590100	chr5:76093419-76093420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187142421	chr5:76093430-76093431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573179372	chr5:76093487-76093488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7729801	chr5:76093502-76093503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564891581	chr5:76093526-76093527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76087600-76094800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:76087800-76095800	Weak transcription	Small Intestine	intestine
3	chr5:76088000-76095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:76088000-76097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:76088000-76097000	Weak transcription	NHLF	lung
6	chr5:76088000-76100000	Weak transcription	HepG2	liver
7	chr5:76088200-76096000	Weak transcription	Hela-S3	cervix
8	chr5:76088200-76096600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:76088200-76097000	Weak transcription	Fetal Lung	lung
10	chr5:76088200-76097400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:76088200-76101400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:76088400-76097000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:76089000-76097000	Weak transcription	NH-A	brain
14	chr5:76091000-76094800	Weak transcription	A549	lung
15	chr5:76091000-76095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:76091000-76096800	Weak transcription	Osteobl	bone
17	chr5:76091000-76097000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:76091000-76101800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:76091200-76095400	Weak transcription	HMEC	breast
20	chr5:76091200-76095400	Weak transcription	NHEK	skin
21	chr5:76091200-76096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:76091600-76095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:76094200-76094800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:76094800-76095000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:76094800-76095400	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr5:76094800-76097200	Enhancers	A549	lung
27	chr5:76095000-76101400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:76095400-76096000	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:76095400-76097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:76095400-76098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:76095400-76098000	Enhancers	NHEK	skin
32	chr5:76095400-76098200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:76095400-76098200	Enhancers	HMEC	breast
34	chr5:76095400-76099800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:76095600-76096000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:76095800-76096000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:76095800-76096000	Enhancers	Small Intestine	intestine
38	chr5:76096000-76096400	Weak transcription	Small Intestine	intestine
39	chr5:76096000-76097000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:76096000-76097200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:76096000-76097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:76096000-76098000	Enhancers	Hela-S3	cervix
43	chr5:76096400-76097200	Weak transcription	Lung	lung
44	chr5:76096400-76098000	Enhancers	Small Intestine	intestine
45	chr5:76096600-76096800	Enhancers	Left Ventricle	heart
46	chr5:76096600-76097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:76096600-76098000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:76096600-76098000	Enhancers	Right Atrium	heart
49	chr5:76096600-76098000	Enhancers	HUVEC	blood vessel
50	chr5:76096800-76097200	Enhancers	Osteobl	bone

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