Variant report

Variant	nsv883230
Chromosome Location	chr5:178614867-178648369
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
2	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
3	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
4	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
5	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
6	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
7	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
8	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
9	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
10	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
11	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
12	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:

No data

Extended variants
information (count: 1920 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1920 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs171667	chr5:178614867-178614868	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549705012	chr5:178614876-178614877	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568010024	chr5:178614906-178614907	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs60920018	chr5:178614911-178614912	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535317440	chr5:178614958-178614959	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371295130	chr5:178614996-178614997	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369398741	chr5:178615006-178615007	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs571521604	chr5:178615020-178615021	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs143920338	chr5:178615035-178615036	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs373298690	chr5:178615038-178615039	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552990256	chr5:178615051-178615052	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs111300977	chr5:178615058-178615059	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs386695584	chr5:178615091-178615092	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs10479527	chr5:178615092-178615093	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs186806472	chr5:178615110-178615111	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs545387668	chr5:178615122-178615123	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs58332416	chr5:178615132-178615133	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs79176083	chr5:178615134-178615135	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576730962	chr5:178615136-178615137	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs187539	chr5:178615162-178615163	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562400327	chr5:178615168-178615169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs189662520	chr5:178615169-178615170	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs571992514	chr5:178615172-178615173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs559751827	chr5:178615216-178615217	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs71589491	chr5:178615271-178615272	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs147259594	chr5:178615328-178615329	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs561443124	chr5:178615350-178615351	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs111415058	chr5:178615374-178615375	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs372249513	chr5:178615387-178615388	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs61169962	chr5:178615394-178615395	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571623824	chr5:178615409-178615410	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538617214	chr5:178615410-178615411	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141437372	chr5:178615430-178615431	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544769309	chr5:178615431-178615432	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563405253	chr5:178615470-178615471	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528985329	chr5:178615472-178615473	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150820845	chr5:178615476-178615477	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554377998	chr5:178615483-178615484	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572666798	chr5:178615500-178615501	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115686017	chr5:178615539-178615540	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34732189	chr5:178615578-178615579	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546171440	chr5:178615587-178615588	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3836834	chr5:178615608-178615609	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184169099	chr5:178615649-178615650	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551410917	chr5:178615658-178615659	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79548507	chr5:178615693-178615694	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55987544	chr5:178615694-178615695	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574622079	chr5:178615695-178615696	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541915364	chr5:178615732-178615733	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139421646	chr5:178615735-178615736	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	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:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
2	chr5:178607000-178615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:178607400-178622200	Weak transcription	NHDF-Ad	bronchial
4	chr5:178607400-178636200	Weak transcription	HSMM	muscle
5	chr5:178607600-178626000	Weak transcription	HSMMtube	muscle
6	chr5:178607800-178629000	Weak transcription	NHLF	lung
7	chr5:178608000-178620800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:178608200-178617800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178608400-178619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:178608600-178616800	Weak transcription	Aorta	Aorta
11	chr5:178609000-178619400	Weak transcription	Osteobl	bone
12	chr5:178609800-178619600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:178610400-178619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:178611800-178616000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:178611800-178616000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:178612000-178616000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:178612600-178615000	Flanking Active TSS	HepG2	liver
18	chr5:178612600-178615600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:178612600-178616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:178612600-178616000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:178612600-178616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:178612600-178616000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:178612800-178615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:178612800-178616000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:178613200-178617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:178613200-178617800	Weak transcription	Spleen	Spleen
27	chr5:178613400-178616000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:178613600-178615000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:178613600-178615400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:178613600-178615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:178613600-178623200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:178613800-178616000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:178613800-178616000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:178614000-178615400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr5:178614000-178615600	Enhancers	Fetal Brain Male	brain
36	chr5:178614200-178615000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:178614200-178615400	Enhancers	Ovary	ovary
38	chr5:178614200-178615600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:178614200-178615800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:178614400-178615200	Enhancers	Fetal Muscle Leg	muscle
41	chr5:178614400-178615400	Enhancers	Fetal Lung	lung
42	chr5:178614400-178615800	Genic enhancers	Fetal Stomach	stomach
43	chr5:178614400-178616200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:178614600-178615200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:178614600-178615400	Enhancers	Placenta	Placenta
46	chr5:178614600-178615800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:178614600-178616000	Enhancers	Fetal Brain Female	brain
48	chr5:178614800-178615400	Enhancers	Adipose Nuclei	Adipose
49	chr5:178614800-178615600	Enhancers	Brain Germinal Matrix	brain
50	chr5:178615000-178615400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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