Variant report

Variant	nsv883224
Chromosome Location	chr5:178604465-178637502
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
2	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
3	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
4	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
5	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
6	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
7	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
8	chr5:178605312..178606812-chr7:157081682..157083546,2	MCF-7	breast:
9	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
10	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
11	chr5:178605814..178608090-chr5:178611906..178613466,2	MCF-7	breast:
12	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
13	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
14	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
15	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:
16	chr5:178605814..178608090-chr5:178611906..178613466,2	MCF-7	breast:

No data

Extended variants
information (count: 1749 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1749 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6862563	chr5:178604465-178604466	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115296235	chr5:178604490-178604491	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530459651	chr5:178604503-178604504	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548581571	chr5:178604520-178604521	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566882500	chr5:178604572-178604573	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76940512	chr5:178604628-178604629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552263946	chr5:178604636-178604637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114675317	chr5:178604658-178604659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183516934	chr5:178604685-178604686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199618123	chr5:178604759-178604760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556355604	chr5:178604769-178604770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374077657	chr5:178604794-178604795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527715409	chr5:178604796-178604797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553748575	chr5:178604797-178604798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572078421	chr5:178604813-178604814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377742027	chr5:178604815-178604816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547797960	chr5:178604827-178604828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564068557	chr5:178604853-178604854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76926279	chr5:178604897-178604898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543528195	chr5:178604964-178604965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571202121	chr5:178605003-178605004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1643817	chr5:178605028-178605029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10479439	chr5:178605068-178605069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563128545	chr5:178605070-178605071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1643816	chr5:178605081-178605082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530207772	chr5:178605082-178605083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548881337	chr5:178605159-178605160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540122420	chr5:178605190-178605191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560584783	chr5:178605266-178605267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200582056	chr5:178605268-178605269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74804946	chr5:178605269-178605270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527974646	chr5:178605270-178605271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552191978	chr5:178605279-178605280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570494617	chr5:178605302-178605303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537973752	chr5:178605331-178605332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201999656	chr5:178605341-178605342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10583265	chr5:178605342-178605343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60508196	chr5:178605344-178605345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368999112	chr5:178605377-178605378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186363605	chr5:178605388-178605389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568260732	chr5:178605394-178605395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535254166	chr5:178605413-178605414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371382827	chr5:178605415-178605416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190719152	chr5:178605429-178605430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35063359	chr5:178605467-178605468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539736214	chr5:178605508-178605509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182910072	chr5:178605518-178605519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576086815	chr5:178605548-178605549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1650355	chr5:178605656-178605657	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554263891	chr5:178605688-178605689	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178606600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:178594800-178607000	Weak transcription	Ovary	ovary
3	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
4	chr5:178595000-178606600	Weak transcription	NHDF-Ad	bronchial
5	chr5:178597000-178604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:178598400-178605200	Weak transcription	Fetal Brain Male	brain
7	chr5:178599000-178604800	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:178599000-178606600	Weak transcription	HSMM	muscle
9	chr5:178599600-178605400	Weak transcription	Spleen	Spleen
10	chr5:178599800-178606400	Weak transcription	NHLF	lung
11	chr5:178600200-178605600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:178601600-178609000	Strong transcription	Osteobl	bone
13	chr5:178602000-178608400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:178602200-178609800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178602800-178612600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:178603200-178604600	Strong transcription	Adipose Nuclei	Adipose
17	chr5:178603200-178608200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178603400-178605800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:178603400-178607400	Strong transcription	Fetal Lung	lung
20	chr5:178603400-178608000	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr5:178603400-178614200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:178603600-178604800	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:178603600-178605000	Enhancers	Brain Hippocampus Middle	brain
24	chr5:178603600-178606600	Weak transcription	Aorta	Aorta
25	chr5:178603800-178604800	Enhancers	Brain Angular Gyrus	brain
26	chr5:178603800-178605200	Weak transcription	Fetal Stomach	stomach
27	chr5:178603800-178605600	Enhancers	Brain Anterior Caudate	brain
28	chr5:178603800-178605600	Enhancers	Brain Substantia Nigra	brain
29	chr5:178604000-178606600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:178604200-178606200	Weak transcription	HSMMtube	muscle
31	chr5:178604400-178604600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:178604600-178605600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:178604600-178605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:178604600-178606600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:178604800-178605200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:178605200-178605400	Enhancers	Fetal Brain Male	brain
37	chr5:178605200-178605600	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:178605600-178606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:178605600-178606600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:178605800-178607200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:178606000-178609800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:178606200-178607000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:178606200-178607600	Strong transcription	HSMMtube	muscle
44	chr5:178606400-178607800	Strong transcription	NHLF	lung
45	chr5:178606600-178607200	ZNF genes & repeats	Aorta	Aorta
46	chr5:178606600-178607400	ZNF genes & repeats	HSMM	muscle
47	chr5:178606600-178607400	Strong transcription	NHDF-Ad	bronchial
48	chr5:178606600-178607800	ZNF genes & repeats	Fetal Stomach	stomach
49	chr5:178606600-178607800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr5:178606600-178608000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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