Variant report

Variant	nsv524857
Chromosome Location	chr5:179807626-179821445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179804942..179807127-chr5:179808323..179810526,2	K562	blood:
2	chr5:179803275..179805488-chr5:179810021..179812217,2	MCF-7	breast:
3	chr5:179801796..179803695-chr5:179808228..179810019,2	MCF-7	breast:
4	chr5:179805841..179808763-chr5:179880689..179883410,2	MCF-7	breast:
5	chr5:179803767..179805689-chr5:179809900..179812491,2	K562	blood:
6	chr5:179817994..179819684-chr5:179863109..179865015,2	MCF-7	breast:

Extended variants
information (count: 683 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1001262	chr5:179807626-179807627	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567458857	chr5:179807629-179807630	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs536129037	chr5:179807677-179807678	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs144151926	chr5:179807690-179807691	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539832726	chr5:179807763-179807764	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs35638943	chr5:179807851-179807852	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs146029812	chr5:179807889-179807890	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs139942142	chr5:179807891-179807892	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs142159385	chr5:179807893-179807894	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs555892831	chr5:179807972-179807973	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546891422	chr5:179808013-179808014	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191204012	chr5:179808025-179808026	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs183309800	chr5:179808060-179808061	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs566461064	chr5:179808111-179808112	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs558154872	chr5:179808125-179808126	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs11745042	chr5:179808161-179808162	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545393414	chr5:179808188-179808189	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs562149953	chr5:179808216-179808217	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs531265895	chr5:179808224-179808225	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541577166	chr5:179808244-179808245	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs11745075	chr5:179808246-179808247	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs187601616	chr5:179808252-179808253	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs74831676	chr5:179808254-179808255	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs66942438	chr5:179808262-179808263	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533266922	chr5:179808345-179808346	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs550157062	chr5:179808356-179808357	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs570078397	chr5:179808375-179808376	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs74472410	chr5:179808392-179808393	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs373207440	chr5:179808401-179808402	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs140510523	chr5:179808404-179808405	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs566197095	chr5:179808407-179808408	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs534898932	chr5:179808417-179808418	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs375591834	chr5:179808431-179808432	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs558378790	chr5:179808480-179808481	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs577872863	chr5:179808515-179808516	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs149998534	chr5:179808524-179808525	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs555705548	chr5:179808525-179808526	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs376486069	chr5:179808556-179808557	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs575654211	chr5:179808675-179808676	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541839229	chr5:179808707-179808708	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs192942976	chr5:179808726-179808727	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs183510018	chr5:179808809-179808810	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs572151825	chr5:179808897-179808898	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs369688197	chr5:179808912-179808913	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs540821461	chr5:179808923-179808924	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs572552374	chr5:179808931-179808932	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs59076313	chr5:179808934-179808935	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs539148651	chr5:179808949-179808950	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs564282411	chr5:179808961-179808962	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs188012636	chr5:179808966-179808967	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179806400-179809000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179806800-179808000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr5:179806800-179809200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:179807600-179808400	Enhancers	Stomach Smooth Muscle	stomach
5	chr5:179807600-179808400	Enhancers	HSMMtube	muscle
6	chr5:179807600-179809200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr5:179807800-179808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:179808000-179808800	Enhancers	Fetal Stomach	stomach
9	chr5:179808400-179808800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr5:179808400-179809000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179808400-179809000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:179809000-179811200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:179809000-179816000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:179816000-179816600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:179816000-179816600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:179816000-179816600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:179816000-179816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:179816000-179817000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:179816000-179817000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:179816000-179817200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:179816000-179817200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:179816000-179817400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:179816200-179816600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:179816200-179816600	Enhancers	Fetal Muscle Leg	muscle
25	chr5:179816200-179817200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr5:179816400-179817200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:179816600-179817000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179816600-179817000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:179816600-179817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:179817000-179817200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:179817000-179817400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr5:179817000-179818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:179817200-179817800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:179817200-179818000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:179817600-179818000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:179817800-179818400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr5:179817800-179821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:179818600-179818800	Bivalent Enhancer	Placenta	Placenta
39	chr5:179818800-179819000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:179819000-179821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:179821000-179821600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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