Variant report

Variant	nsv522826
Chromosome Location	chr5:60754419-60759524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60752201..60754945-chr5:60755647..60758882,3	K562	blood:
2	chr5:60743212..60746123-chr5:60754796..60756485,2	MCF-7	breast:
3	chr5:60755091..60757067-chr5:60758123..60759831,2	K562	blood:
4	chr5:60749146..60750936-chr5:60757361..60759917,2	MCF-7	breast:
5	chr5:60752201..60754945-chr5:60755647..60758882,3	K562	blood:
6	chr5:60755091..60757067-chr5:60758123..60759831,2	K562	blood:
7	chr5:60743838..60746169-chr5:60756633..60758199,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1986252	chr5:60754419-60754420	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13163770	chr5:60754429-60754430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116816896	chr5:60754430-60754431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552578606	chr5:60754447-60754448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1986251	chr5:60754486-60754487	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528447328	chr5:60754495-60754496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548676235	chr5:60754536-60754537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568173331	chr5:60754597-60754598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181925761	chr5:60754654-60754655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13164359	chr5:60754659-60754660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386688471	chr5:60754661-60754662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569508481	chr5:60754697-60754698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371885575	chr5:60754717-60754718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538585064	chr5:60754722-60754723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78571295	chr5:60754731-60754732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535104636	chr5:60754818-60754819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142802732	chr5:60754855-60754856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540636557	chr5:60754872-60754873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554660616	chr5:60754904-60754905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545113912	chr5:60754962-60754963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574538370	chr5:60755025-60755026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76643767	chr5:60755030-60755031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563906830	chr5:60755062-60755063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372521850	chr5:60755123-60755124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532731066	chr5:60755132-60755133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56802710	chr5:60755145-60755146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542651877	chr5:60755205-60755206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559759799	chr5:60755283-60755284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528494837	chr5:60755366-60755367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548240092	chr5:60755387-60755388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75914006	chr5:60755413-60755414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530949365	chr5:60755479-60755480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550648742	chr5:60755497-60755498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569545310	chr5:60755517-60755518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538429722	chr5:60755557-60755558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147389626	chr5:60755572-60755573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565796150	chr5:60755670-60755671	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534616095	chr5:60755678-60755679	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554651800	chr5:60755679-60755680	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528785256	chr5:60755762-60755763	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527410598	chr5:60755848-60755849	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543570422	chr5:60755869-60755870	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186299766	chr5:60755871-60755872	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113202860	chr5:60755882-60755883	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546037933	chr5:60755994-60755995	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559996940	chr5:60756008-60756009	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528827345	chr5:60756068-60756069	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546837087	chr5:60756139-60756140	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183561719	chr5:60756178-60756179	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561784058	chr5:60756202-60756203	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	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
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	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
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60737800-60757000	Weak transcription	Gastric	stomach
2	chr5:60743600-60756200	Weak transcription	Fetal Kidney	kidney
3	chr5:60744400-60767800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:60746000-60759600	Weak transcription	Aorta	Aorta
5	chr5:60746200-60759800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:60746400-60758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:60747000-60757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:60747000-60760600	Weak transcription	NHLF	lung
9	chr5:60747000-60762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:60747200-60757000	Weak transcription	Small Intestine	intestine
11	chr5:60747200-60757200	Weak transcription	Left Ventricle	heart
12	chr5:60747200-60760200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:60747400-60755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:60747600-60760400	Weak transcription	NH-A	brain
15	chr5:60747600-60770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:60747800-60757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:60748000-60757000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:60748600-60757000	Weak transcription	HSMM	muscle
19	chr5:60748800-60757800	Weak transcription	HSMMtube	muscle
20	chr5:60749000-60762200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:60750000-60760400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:60750400-60757200	Weak transcription	Liver	Liver
23	chr5:60751600-60756000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:60751600-60757000	Weak transcription	Psoas Muscle	Psoas
25	chr5:60751600-60760400	Weak transcription	Right Atrium	heart
26	chr5:60752400-60757200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:60752600-60755200	Weak transcription	A549	lung
28	chr5:60752600-60755600	Weak transcription	Brain Substantia Nigra	brain
29	chr5:60752600-60755600	Weak transcription	Stomach Mucosa	stomach
30	chr5:60752600-60756200	Weak transcription	Brain Anterior Caudate	brain
31	chr5:60752600-60757000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:60752600-60757000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:60752600-60757000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:60752600-60757200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:60752600-60759400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:60752600-60760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:60753000-60755400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:60753000-60760200	Weak transcription	Adipose Nuclei	Adipose
39	chr5:60753200-60760200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:60753400-60757000	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:60754000-60756800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:60754200-60754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:60754200-60755000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:60754600-60755000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:60754600-60758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:60755000-60762600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:60755200-60755400	Strong transcription	A549	lung
48	chr5:60755200-60756000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:60755400-60755600	Weak transcription	A549	lung
50	chr5:60755400-60756400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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