Variant report

Variant	esv15459
Chromosome Location	chr5:177847905-177852613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177838677..177840723-chr5:177850329..177853314,2	K562	blood:
2	chr5:177843982..177846399-chr5:177848195..177849989,2	MCF-7	breast:
3	chr5:177844389..177846173-chr5:177851202..177854065,2	MCF-7	breast:
4	chr5:177851551..177854301-chr5:177861521..177864094,2	MCF-7	breast:
5	chr5:177851066..177853109-chr5:177854719..177857640,2	MCF-7	breast:

Extended variants
information (count: 208 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543618816	chr5:177847955-177847956	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs554883960	chr5:177847965-177847966	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs377276530	chr5:177847966-177847967	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs556354396	chr5:177847998-177847999	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs574905753	chr5:177848104-177848105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11956401	chr5:177848109-177848110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs115842060	chr5:177848271-177848272	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570126544	chr5:177848272-177848273	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577338451	chr5:177848296-177848297	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527977090	chr5:177848369-177848370	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534111568	chr5:177848377-177848378	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546043471	chr5:177848415-177848416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17081205	chr5:177848429-177848430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141973039	chr5:177848430-177848431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563302283	chr5:177848476-177848477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191704276	chr5:177848478-177848479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372956801	chr5:177848513-177848514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545033170	chr5:177848543-177848544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535997309	chr5:177848551-177848552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529039056	chr5:177848578-177848579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183215977	chr5:177848667-177848668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565632538	chr5:177848698-177848699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558541967	chr5:177848721-177848722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539449412	chr5:177848744-177848745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145874083	chr5:177848757-177848758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187851825	chr5:177848771-177848772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113107449	chr5:177848784-177848785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555572707	chr5:177848794-177848795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141924464	chr5:177848828-177848829	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12514150	chr5:177848845-177848846	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373569595	chr5:177848875-177848876	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572070311	chr5:177848883-177848884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4618442	chr5:177848887-177848888	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564600153	chr5:177848907-177848908	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576707149	chr5:177848912-177848913	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183620322	chr5:177848933-177848934	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140853722	chr5:177848935-177848936	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375941476	chr5:177848937-177848938	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200578188	chr5:177848938-177848939	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529512068	chr5:177848942-177848943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150678244	chr5:177848957-177848958	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559505626	chr5:177848958-177848959	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532929188	chr5:177849012-177849013	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139093247	chr5:177849038-177849039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569836102	chr5:177849055-177849056	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537393901	chr5:177849084-177849085	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559830802	chr5:177849102-177849103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143557905	chr5:177849113-177849114	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73336645	chr5:177849123-177849124	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552025775	chr5:177849157-177849158	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177840000-177855000	Weak transcription	Right Atrium	heart
2	chr5:177841200-177854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:177842400-177848000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:177844000-177849800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:177844400-177849000	Enhancers	Fetal Thymus	thymus
6	chr5:177844800-177848600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:177844800-177851200	Weak transcription	Fetal Lung	lung
8	chr5:177845600-177849600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:177845800-177849600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:177846000-177849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:177846000-177849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:177846200-177848000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:177846200-177849400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:177846200-177849600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:177846200-177851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177846400-177848800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:177846400-177849600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:177846600-177848000	Enhancers	Fetal Muscle Leg	muscle
19	chr5:177846600-177848800	Weak transcription	Thymus	Thymus
20	chr5:177846600-177849200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:177846600-177849600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:177846600-177856000	Weak transcription	Gastric	stomach
23	chr5:177846800-177848000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:177847000-177848000	Enhancers	Fetal Stomach	stomach
25	chr5:177847000-177849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:177847200-177848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:177847200-177854600	Weak transcription	Fetal Kidney	kidney
28	chr5:177847600-177848000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:177847600-177848400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:177847800-177848000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:177847800-177848000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr5:177847800-177848200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:177847800-177849400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:177847800-177850400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:177848000-177848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:177848000-177848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:177848000-177848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:177848000-177848800	Weak transcription	Fetal Stomach	stomach
39	chr5:177848000-177849800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:177848200-177848400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:177848200-177849200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:177848400-177849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:177848400-177851200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:177848600-177849000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:177848800-177849600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:177848800-177849600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177848800-177849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177848800-177850800	Enhancers	Fetal Heart	heart
49	chr5:177848800-177851800	Enhancers	Fetal Stomach	stomach
50	chr5:177848800-177859800	Strong transcription	Thymus	Thymus

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