Variant report

Variant	nsv600454
Chromosome Location	chr5:178257859-178259891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178250159..178253046-chr5:178256116..178259012,3	MCF-7	breast:
2	chr5:178252394..178254113-chr5:178255346..178258174,3	K562	blood:
3	chr5:178219910..178220433-chr5:178257274..178257901,2	MCF-7	breast:
4	chr5:178228775..178231759-chr5:178257850..178260513,2	MCF-7	breast:
5	chr5:178258610..178261483-chr5:178285999..178288925,2	K562	blood:

Variant related genes	Relation type
ENSG00000178338	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4073864	chr5:178257859-178257860	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369035551	chr5:178257863-178257864	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554449497	chr5:178257885-178257886	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372052623	chr5:178257889-178257890	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540110975	chr5:178257906-178257907	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565189464	chr5:178257932-178257933	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13163348	chr5:178257936-178257937	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544226622	chr5:178257940-178257941	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562496129	chr5:178257954-178257955	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144809319	chr5:178257972-178257973	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114511447	chr5:178257973-178257974	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369548233	chr5:178257993-178257994	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567732595	chr5:178257995-178257996	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528687120	chr5:178258010-178258011	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184344021	chr5:178258013-178258014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571598850	chr5:178258014-178258015	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540805199	chr5:178258033-178258034	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539966046	chr5:178258034-178258035	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569265747	chr5:178258035-178258036	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4073865	chr5:178258052-178258053	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200056992	chr5:178258055-178258056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368304461	chr5:178258056-178258057	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375632326	chr5:178258057-178258058	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56939820	chr5:178258061-178258062	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572912646	chr5:178258107-178258108	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13183235	chr5:178258113-178258114	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115773934	chr5:178258139-178258140	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79192399	chr5:178258147-178258148	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13187283	chr5:178258160-178258161	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544552639	chr5:178258163-178258164	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13183254	chr5:178258166-178258167	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs35419291	chr5:178258189-178258190	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529715046	chr5:178258227-178258228	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541515672	chr5:178258233-178258234	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149057650	chr5:178258253-178258254	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10455078	chr5:178258272-178258273	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546786542	chr5:178258282-178258283	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201881563	chr5:178258284-178258285	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375682436	chr5:178258308-178258309	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71587695	chr5:178258333-178258334	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59550084	chr5:178258342-178258343	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551257664	chr5:178258369-178258370	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571727724	chr5:178258372-178258373	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532649780	chr5:178258381-178258382	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550875901	chr5:178258431-178258432	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77452744	chr5:178258433-178258434	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536661181	chr5:178258465-178258466	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143053423	chr5:178258496-178258497	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12186812	chr5:178258521-178258522	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534319065	chr5:178258527-178258528	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178254000-178259400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:178254200-178259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:178254400-178258200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:178256400-178258600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:178256600-178258200	Weak transcription	K562	blood
6	chr5:178257200-178258200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:178257200-178259200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:178257200-178259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:178257600-178259400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:178257800-178258800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr5:178258200-178258400	Enhancers	K562	blood
12	chr5:178258200-178259800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:178258200-178260000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:178258400-178258800	Flanking Active TSS	K562	blood
15	chr5:178258600-178259800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:178258800-178260000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr5:178258800-178260000	Active TSS	K562	blood
18	chr5:178259200-178259800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:178259400-178259600	Flanking Active TSS	Dnd41	blood
20	chr5:178259400-178259800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:178259400-178259800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:178259400-178259800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:178259400-178259800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:178259400-178260000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:178259600-178259800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:178259600-178259800	Active TSS	Dnd41	blood

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