Variant report

Variant	nsv1032746
Chromosome Location	chr5:57675471-57701548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57690507..57692286-chr5:57754690..57756472,2	MCF-7	breast:
2	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
3	chr5:57659417..57661558-chr5:57689608..57691662,2	MCF-7	breast:
4	chr5:57684855..57687554-chr5:57691257..57692769,2	MCF-7	breast:
5	chr5:57679458..57681464-chr5:57685190..57686778,2	MCF-7	breast:
6	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
7	chr5:57684855..57687554-chr5:57691257..57692769,2	MCF-7	breast:
8	chr5:57695137..57697573-chr5:57699382..57701750,2	MCF-7	breast:
9	chr5:57685717..57687980-chr5:57753512..57756250,3	MCF-7	breast:
10	chr5:57679618..57681387-chr5:57685117..57687190,2	MCF-7	breast:
11	chr5:57695137..57697573-chr5:57699382..57701750,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAPT-4	chr5:57691657-57691878	NONHSAT101601

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 769 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139301844	chr5:57675472-57675473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528384673	chr5:57675475-57675476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565885864	chr5:57675574-57675575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186972008	chr5:57675606-57675607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs547323545	chr5:57675612-57675613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529096829	chr5:57675622-57675623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs79422286	chr5:57675690-57675691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112034916	chr5:57675723-57675724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs193060777	chr5:57675794-57675795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149597722	chr5:57675825-57675826	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539197753	chr5:57675876-57675877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557323994	chr5:57675882-57675883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76293045	chr5:57675884-57675885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535278079	chr5:57675895-57675896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115120159	chr5:57675910-57675911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185826062	chr5:57675911-57675912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574942016	chr5:57675915-57675916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60482268	chr5:57675917-57675918	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189862119	chr5:57675974-57675975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182072022	chr5:57676005-57676006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371936966	chr5:57676062-57676063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564432534	chr5:57676108-57676109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528477649	chr5:57676142-57676143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540489774	chr5:57676144-57676145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561848414	chr5:57676189-57676190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529218059	chr5:57676210-57676211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184571975	chr5:57676214-57676215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556583433	chr5:57676232-57676233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188498570	chr5:57676234-57676235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147237978	chr5:57676313-57676314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181343644	chr5:57676371-57676372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531093174	chr5:57676380-57676381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57633768	chr5:57676392-57676393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116214895	chr5:57677200-57677201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs245460	chr5:57677212-57677213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376331761	chr5:57677223-57677224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187506624	chr5:57677224-57677225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551298043	chr5:57677241-57677242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550601483	chr5:57677260-57677261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191393698	chr5:57677326-57677327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183710297	chr5:57677340-57677341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568869435	chr5:57677358-57677359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573256109	chr5:57677377-57677378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145274764	chr5:57677384-57677385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13170181	chr5:57677436-57677437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187657829	chr5:57677458-57677459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544074028	chr5:57677465-57677466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61178371	chr5:57677473-57677474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58724910	chr5:57677474-57677475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs245459	chr5:57677482-57677483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57673200-57676000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr5:57674600-57675800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:57675800-57676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:57677200-57689600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:57679200-57679600	Enhancers	HMEC	breast
6	chr5:57679200-57679600	Enhancers	NHEK	skin
7	chr5:57686200-57686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:57686600-57687600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:57687400-57688600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:57687400-57688800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:57687400-57688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:57687600-57687800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr5:57687600-57687800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:57687600-57687800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:57687600-57687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:57687600-57688000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:57687600-57688400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:57687600-57688600	Enhancers	Hela-S3	cervix
19	chr5:57687600-57688800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:57687600-57689000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:57687800-57688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:57688400-57688600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:57688400-57688600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:57688400-57688600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:57688400-57688600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:57688400-57688800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:57688600-57690000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:57689600-57689800	ZNF genes & repeats	Aorta	Aorta
29	chr5:57689600-57690200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:57689600-57690400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:57689600-57690600	Enhancers	NHEK	skin
32	chr5:57690000-57690400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:57690000-57690600	Weak transcription	Aorta	Aorta
34	chr5:57690200-57690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:57690400-57690800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:57690800-57694400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:57694400-57695200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:57694600-57695000	Enhancers	Aorta	Aorta
39	chr5:57695200-57695600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:57695600-57701400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:57697600-57697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:57697800-57698000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:57697800-57698000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:57698000-57699000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:57698200-57699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:57699000-57705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:57699400-57699600	Enhancers	NHEK	skin
48	chr5:57699600-57700000	Flanking Active TSS	NHEK	skin
49	chr5:57699600-57704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:57699600-57708200	Enhancers	HMEC	breast

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