Variant report

Variant	esv16566
Chromosome Location	chr5:167118388-167126431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 304 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544663763	chr5:167118454-167118455	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76349021	chr5:167118493-167118494	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547919868	chr5:167118527-167118528	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189842128	chr5:167118561-167118562	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536896776	chr5:167118573-167118574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116252231	chr5:167118591-167118592	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570358907	chr5:167118606-167118607	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538964561	chr5:167118608-167118609	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76087614	chr5:167118677-167118678	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150096968	chr5:167118714-167118715	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75315362	chr5:167118785-167118786	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576533189	chr5:167118802-167118803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369373149	chr5:167118803-167118804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553874178	chr5:167118808-167118809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138322570	chr5:167118855-167118856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537197331	chr5:167118947-167118948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562625817	chr5:167118951-167118952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576257439	chr5:167118958-167118959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545325301	chr5:167118985-167118986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565237973	chr5:167119006-167119007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527727315	chr5:167119021-167119022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544011631	chr5:167119043-167119044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547907281	chr5:167119089-167119090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561460468	chr5:167119094-167119095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112939988	chr5:167119109-167119110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562179909	chr5:167119126-167119127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530214095	chr5:167119184-167119185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550312680	chr5:167119205-167119206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570179291	chr5:167119270-167119271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376662962	chr5:167119273-167119274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183020226	chr5:167119286-167119287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538902579	chr5:167119307-167119308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368719865	chr5:167119365-167119366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552462569	chr5:167119395-167119396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372893293	chr5:167119463-167119464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187142736	chr5:167119537-167119538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533590366	chr5:167119545-167119546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373219574	chr5:167119591-167119592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149652430	chr5:167119597-167119598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535986172	chr5:167119617-167119618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146107605	chr5:167119667-167119668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576311520	chr5:167119703-167119704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545312213	chr5:167119720-167119721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565223319	chr5:167119771-167119772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556759609	chr5:167119795-167119796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532804790	chr5:167119798-167119799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546239424	chr5:167119859-167119860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529571586	chr5:167119864-167119865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377441039	chr5:167119875-167119876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572447696	chr5:167119889-167119890	Weak transcription Enhancers	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167111400-167125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167116200-167125400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167116400-167118400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167116400-167123400	Weak transcription	HSMM	muscle
5	chr5:167117400-167118800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:167118400-167118800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167118800-167121200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:167119800-167120000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:167121000-167121600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:167121200-167121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167121400-167122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:167121600-167125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:167121800-167123800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:167122000-167125400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:167123400-167128800	Enhancers	HSMM	muscle
16	chr5:167123600-167124000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:167123600-167124000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:167123600-167124000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:167123600-167124200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:167123800-167124000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:167123800-167124200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:167123800-167124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:167123800-167124200	ZNF genes & repeats	A549	lung
24	chr5:167123800-167124200	Enhancers	HSMMtube	muscle
25	chr5:167123800-167124400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:167123800-167126800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:167124000-167124200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:167124000-167124200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:167124000-167124200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:167124000-167124200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:167124000-167124200	Enhancers	NHDF-Ad	bronchial
32	chr5:167124000-167125200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:167124000-167125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:167124000-167126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:167124000-167127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:167124200-167124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:167124200-167125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:167124200-167125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:167124200-167125200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:167124200-167125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:167124200-167125200	Weak transcription	A549	lung
42	chr5:167124200-167125200	Weak transcription	HSMMtube	muscle
43	chr5:167124200-167125200	Weak transcription	NHDF-Ad	bronchial
44	chr5:167124200-167125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:167124200-167129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:167124400-167126200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:167124800-167128600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:167125000-167126200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:167125000-167126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:167125000-167129400	Enhancers	Hela-S3	cervix

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