Variant report

Variant	nsv1032601
Chromosome Location	chr5:120138772-120163808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119991478..119992421-chr5:120138412..120139232,3	MCF-7	breast:

Extended variants
information (count: 895 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11954162	chr5:120138772-120138773	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555820060	chr5:120138775-120138776	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574111317	chr5:120138836-120138837	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142583040	chr5:120138843-120138844	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552138444	chr5:120138886-120138887	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146767525	chr5:120138888-120138889	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs578106662	chr5:120138912-120138913	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545585359	chr5:120138967-120138968	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200297277	chr5:120138976-120138977	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs193290396	chr5:120138998-120138999	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114199534	chr5:120139028-120139029	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111466949	chr5:120139040-120139041	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561327418	chr5:120139067-120139068	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570646702	chr5:120139078-120139079	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528894007	chr5:120139103-120139104	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184632150	chr5:120139136-120139137	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111873653	chr5:120139151-120139152	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139304362	chr5:120139162-120139163	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs551562297	chr5:120139167-120139168	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565472744	chr5:120139218-120139219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569937598	chr5:120139228-120139229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189183034	chr5:120139233-120139234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546799022	chr5:120139239-120139240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555732344	chr5:120139243-120139244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73786849	chr5:120139293-120139294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535062446	chr5:120139369-120139370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112618698	chr5:120139401-120139402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77876692	chr5:120139436-120139437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568188596	chr5:120139449-120139450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192126333	chr5:120139474-120139475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184170331	chr5:120139503-120139504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371318808	chr5:120139523-120139524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542899333	chr5:120139536-120139537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374982813	chr5:120139552-120139553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115651540	chr5:120139577-120139578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77926672	chr5:120139579-120139580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559143982	chr5:120139590-120139591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533063923	chr5:120139593-120139594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76228906	chr5:120139619-120139620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72783672	chr5:120139665-120139666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549374974	chr5:120139677-120139678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375272540	chr5:120139711-120139712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369574792	chr5:120139715-120139716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530765420	chr5:120139722-120139723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549295183	chr5:120139723-120139724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567567727	chr5:120139762-120139763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73263101	chr5:120139769-120139770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553345603	chr5:120139788-120139789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571619539	chr5:120139800-120139801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190027203	chr5:120139834-120139835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120137600-120139000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120137800-120139000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:120138000-120142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:120138400-120138800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:120138400-120138800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:120138400-120139000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:120138400-120139000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:120138400-120139000	Active TSS	Brain Anterior Caudate	brain
9	chr5:120138400-120139000	Active TSS	Brain Hippocampus Middle	brain
10	chr5:120138400-120139000	Enhancers	HSMM	muscle
11	chr5:120138400-120139000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr5:120138400-120139000	Enhancers	Osteobl	bone
13	chr5:120138600-120139000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:120138800-120139200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:120138800-120139200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:120138800-120139200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:120138800-120143400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:120139000-120139200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:120139000-120139200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:120139000-120139200	Active TSS	NHDF-Ad	bronchial
21	chr5:120139000-120141800	Weak transcription	Osteobl	bone
22	chr5:120139200-120139400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:120139200-120141800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:120139200-120142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:120139200-120142000	Weak transcription	NHDF-Ad	bronchial
26	chr5:120139200-120142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:120139400-120143600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:120140200-120141000	Enhancers	Psoas Muscle	Psoas
29	chr5:120140800-120141000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:120141000-120141800	Weak transcription	Psoas Muscle	Psoas
31	chr5:120141000-120143600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:120141800-120142400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:120141800-120142400	Enhancers	Osteobl	bone
34	chr5:120142000-120142200	Enhancers	Psoas Muscle	Psoas
35	chr5:120142000-120142200	Enhancers	NHDF-Ad	bronchial
36	chr5:120142000-120142400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:120142000-120142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:120142000-120142400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:120142000-120142400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:120142000-120142400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:120142000-120142600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:120142000-120142600	Enhancers	Fetal Lung	lung
43	chr5:120142000-120142800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:120142000-120144600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:120142200-120142600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:120142400-120143600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:120142400-120143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:120142600-120143600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:120142800-120143600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:120143400-120144000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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