Variant report

Variant	nsv600497
Chromosome Location	chr5:178639040-178686438
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
2	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
3	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
4	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
5	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
6	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
7	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
8	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
9	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
10	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
11	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
12	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
13	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
14	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
15	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
16	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
17	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
18	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
19	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:

No data

Extended variants
information (count: 2381 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191415	chr5:178639040-178639041	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543437840	chr5:178639085-178639086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180045	chr5:178639086-178639087	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189534560	chr5:178639090-178639091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189255	chr5:178639127-178639128	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73809722	chr5:178639146-178639147	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs652766	chr5:178639149-178639150	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564478989	chr5:178639156-178639157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11750433	chr5:178639177-178639178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543662337	chr5:178639178-178639179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180749441	chr5:178639181-178639182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186475466	chr5:178639193-178639194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11740803	chr5:178639213-178639214	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs395636	chr5:178639220-178639221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567360523	chr5:178639231-178639232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73329780	chr5:178639242-178639243	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553026589	chr5:178639264-178639265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572724331	chr5:178639265-178639266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13169412	chr5:178639284-178639285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11750476	chr5:178639290-178639291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116130971	chr5:178639291-178639292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112371471	chr5:178639297-178639298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11740834	chr5:178639316-178639317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112040412	chr5:178639338-178639339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13173512	chr5:178639342-178639343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs420527	chr5:178639352-178639353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111857303	chr5:178639360-178639361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13187924	chr5:178639361-178639362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570416283	chr5:178639362-178639363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13186764	chr5:178639370-178639371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558524126	chr5:178639378-178639379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111412180	chr5:178639388-178639389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113963601	chr5:178639389-178639390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371717803	chr5:178639398-178639399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs395608	chr5:178639399-178639400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561892673	chr5:178639438-178639439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199588574	chr5:178639443-178639444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112657944	chr5:178639446-178639447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34109888	chr5:178639451-178639452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113369755	chr5:178639453-178639454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181919973	chr5:178639457-178639458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13188107	chr5:178639467-178639468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112992089	chr5:178639475-178639476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35424664	chr5:178639483-178639484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186257452	chr5:178639485-178639486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113008891	chr5:178639509-178639510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111886406	chr5:178639529-178639530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191522945	chr5:178639530-178639531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13169931	chr5:178639536-178639537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13169936	chr5:178639546-178639547	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178619800-178650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:178620200-178650200	Weak transcription	Fetal Lung	lung
3	chr5:178623800-178640600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:178631800-178649800	Weak transcription	Gastric	stomach
5	chr5:178634400-178640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:178636600-178644000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:178636600-178645000	Weak transcription	Spleen	Spleen
8	chr5:178637000-178643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:178637000-178645000	Weak transcription	Adipose Nuclei	Adipose
10	chr5:178637400-178644600	Weak transcription	Fetal Stomach	stomach
11	chr5:178638000-178644600	Weak transcription	HSMM	muscle
12	chr5:178638200-178644000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
14	chr5:178638400-178643600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178638600-178640000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:178638600-178642800	Weak transcription	NHDF-Ad	bronchial
17	chr5:178638800-178640200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:178638800-178642400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178638800-178642600	Weak transcription	Osteobl	bone
20	chr5:178638800-178647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:178639000-178639800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:178639000-178642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:178639800-178640600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:178639800-178640800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:178640000-178640600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:178640000-178644000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:178640200-178640600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:178640400-178640600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:178640600-178644200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:178640600-178645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:178640600-178645800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:178640800-178642600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:178642400-178645200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:178642600-178643000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:178642600-178643200	Enhancers	Osteobl	bone
36	chr5:178642600-178645800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:178642800-178645400	Enhancers	NHDF-Ad	bronchial
38	chr5:178643000-178646200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:178643200-178644000	Weak transcription	Osteobl	bone
40	chr5:178643600-178644000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:178643800-178646200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:178644000-178644200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:178644000-178644600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:178644000-178645200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:178644000-178645200	Enhancers	Osteobl	bone
46	chr5:178644000-178646200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:178644200-178645000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:178644200-178645400	Enhancers	NHLF	lung
49	chr5:178644200-178646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:178644200-178654200	Weak transcription	Stomach Smooth Muscle	stomach

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