Variant report

Variant	nsv883101
Chromosome Location	chr5:166759856-166797936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:166761474..166763791-chr5:166767248..166768863,2	K562	blood:
2	chr16:61184757..61185584-chr5:166788286..166789011,2	MCF-7	breast:
3	chr5:166761474..166763791-chr5:166767248..166768863,2	K562	blood:

Extended variants
information (count: 1317 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1317 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4868792	chr5:166759856-166759857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540498855	chr5:166759866-166759867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150667268	chr5:166759936-166759937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139745289	chr5:166760057-166760058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550741766	chr5:166760070-166760071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562434798	chr5:166760128-166760129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533005670	chr5:166760159-166760160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78287521	chr5:166760166-166760167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566436562	chr5:166760179-166760180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374469652	chr5:166760187-166760188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139496031	chr5:166760208-166760209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73367432	chr5:166760228-166760229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568345085	chr5:166760241-166760242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374839121	chr5:166760278-166760279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62388773	chr5:166760303-166760304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144239451	chr5:166760330-166760331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535652518	chr5:166760333-166760334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557487054	chr5:166760366-166760367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569253139	chr5:166760369-166760370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75373228	chr5:166760372-166760373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146514836	chr5:166760381-166760382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573258920	chr5:166760394-166760395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78764188	chr5:166760395-166760396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562378667	chr5:166760399-166760400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4868793	chr5:166760467-166760468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183593523	chr5:166760490-166760491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544087502	chr5:166760510-166760511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17068325	chr5:166760515-166760516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34375956	chr5:166760529-166760530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148693450	chr5:166760550-166760551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545056534	chr5:166760558-166760559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187374504	chr5:166760584-166760585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531845385	chr5:166760585-166760586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527273370	chr5:166760591-166760592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375493852	chr5:166760637-166760638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373780379	chr5:166760695-166760696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62388774	chr5:166760696-166760697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568421901	chr5:166760704-166760705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528988203	chr5:166760711-166760712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192924826	chr5:166760783-166760784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550912270	chr5:166760791-166760792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569396120	chr5:166760920-166760921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568784766	chr5:166760984-166760985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184753240	chr5:166760995-166760996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142142040	chr5:166761013-166761014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566917960	chr5:166761051-166761052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187887739	chr5:166761065-166761066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555758913	chr5:166761101-166761102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573987970	chr5:166761102-166761103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549115921	chr5:166761162-166761163	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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166759000-166760000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:166759000-166760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:166759200-166760000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:166759600-166760000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:166759800-166763000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:166759800-166764400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:166760000-166761200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:166760000-166763200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:166760200-166761400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:166761200-166761800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:166761400-166763800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:166761800-166762800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:166762000-166762600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:166762400-166763000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:166762600-166763800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:166762800-166763600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:166763000-166763600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:166763000-166772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:166763200-166763600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:166763600-166765200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:166764400-166767600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:166765600-166765800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:166765600-166766200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:166768000-166768200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:166768200-166784600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:166771400-166772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:166771600-166772400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:166772000-166772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:166772000-166772400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:166772200-166778400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:166773600-166773800	Enhancers	Fetal Muscle Leg	muscle
32	chr5:166773600-166774000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:166773800-166775000	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:166775000-166775600	Enhancers	Fetal Muscle Leg	muscle
35	chr5:166775400-166775600	Enhancers	Adipose Nuclei	Adipose
36	chr5:166775400-166776200	Active TSS	Liver	Liver
37	chr5:166775600-166776000	Active TSS	NHDF-Ad	bronchial
38	chr5:166776200-166776400	Enhancers	Liver	Liver
39	chr5:166778400-166778600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:166778400-166779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:166778400-166780600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:166778600-166780200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:166778600-166781200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:166779000-166779400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:166779200-166780600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:166779400-166780000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:166779600-166780400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:166779600-166780600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:166779600-166780600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:166779600-166780600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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