Variant report

Variant	nsv883102
Chromosome Location	chr5:166773534-166797936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:61184757..61185584-chr5:166788286..166789011,2	MCF-7	breast:

Extended variants
information (count: 841 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4869030	chr5:166773534-166773535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190384279	chr5:166773583-166773584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147197995	chr5:166773614-166773615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140362595	chr5:166773720-166773721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541593885	chr5:166773742-166773743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78274392	chr5:166773755-166773756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578155434	chr5:166773780-166773781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545362553	chr5:166773802-166773803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111922360	chr5:166773848-166773849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568029948	chr5:166773881-166773882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564038501	chr5:166773905-166773906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181460306	chr5:166773928-166773929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144287687	chr5:166773939-166773940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372618571	chr5:166773960-166773961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145525977	chr5:166773986-166773987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377253449	chr5:166774062-166774063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537251095	chr5:166774064-166774065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186004385	chr5:166774110-166774111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111545947	chr5:166774146-166774147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78003366	chr5:166774147-166774148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372696844	chr5:166774159-166774160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570627460	chr5:166774169-166774170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190075256	chr5:166774193-166774194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560999211	chr5:166774196-166774197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528560897	chr5:166774200-166774201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183454127	chr5:166774232-166774233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557287983	chr5:166774238-166774239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575560979	chr5:166774254-166774255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546729504	chr5:166774304-166774305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187443609	chr5:166774356-166774357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571336148	chr5:166774363-166774364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148823906	chr5:166774384-166774385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75143066	chr5:166774392-166774393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540309799	chr5:166774402-166774403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191076414	chr5:166774443-166774444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528879729	chr5:166774447-166774448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183718207	chr5:166774451-166774452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142533503	chr5:166774477-166774478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570024313	chr5:166774551-166774552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531076172	chr5:166774553-166774554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551171421	chr5:166774620-166774621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199948480	chr5:166774659-166774660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201038857	chr5:166774687-166774688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570689431	chr5:166774688-166774689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189150896	chr5:166774689-166774690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547060371	chr5:166774726-166774727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76669883	chr5:166774792-166774793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535843688	chr5:166774839-166774840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56885083	chr5:166774848-166774849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575622618	chr5:166774865-166774866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	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
Breast cancer	17603634	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
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166768200-166784600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:166772200-166778400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:166773600-166773800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:166773600-166774000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:166773800-166775000	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:166775000-166775600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:166775400-166775600	Enhancers	Adipose Nuclei	Adipose
8	chr5:166775400-166776200	Active TSS	Liver	Liver
9	chr5:166775600-166776000	Active TSS	NHDF-Ad	bronchial
10	chr5:166776200-166776400	Enhancers	Liver	Liver
11	chr5:166778400-166778600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:166778400-166779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:166778400-166780600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:166778600-166780200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:166778600-166781200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:166779000-166779400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:166779200-166780600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:166779400-166780000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:166779600-166780400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:166779600-166780600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:166779600-166780600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:166779600-166780600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:166779800-166780400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:166779800-166780400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:166780000-166780400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:166780200-166780400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:166780200-166781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:166780400-166781600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:166780400-166781600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:166780400-166781600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:166780400-166785400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:166780600-166781000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:166780600-166781000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:166780600-166781000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:166780600-166781000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:166780600-166782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:166781000-166782600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:166781000-166782800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:166781000-166782800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:166781000-166782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:166781000-166786000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:166781200-166782000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:166781200-166782400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:166781200-166782800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:166781600-166782600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:166781600-166782800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:166781600-166782800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:166781800-166782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:166782000-166782400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:166782000-166782600	Enhancers	H9 Cell Line	embryonic stem cell

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