Variant report

Variant	esv3404450
Chromosome Location	chr5:178003046-178007344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178006099..178008478-chr5:178010854..178012707,2	MCF-7	breast:
2	chr5:177995855..177997941-chr5:178001993..178004774,2	K562	blood:
3	chr5:178001407..178003756-chr5:178005377..178007780,2	K562	blood:
4	chr5:178001407..178003756-chr5:178005377..178007780,2	K562	blood:
5	chr5:177997965..178000895-chr5:178002250..178003802,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs372404693	chr5:178003052-178003053	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535015997	chr5:178003058-178003059	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185499081	chr5:178003070-178003071	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374772338	chr5:178003093-178003094	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150043308	chr5:178003115-178003116	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545536299	chr5:178003145-178003146	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs174440	chr5:178003165-178003166	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563246540	chr5:178003200-178003201	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs174439	chr5:178003217-178003218	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190471877	chr5:178003226-178003227	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369136956	chr5:178003261-178003262	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs510200	chr5:178003287-178003288	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373418715	chr5:178003295-178003296	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141413163	chr5:178003296-178003297	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6893972	chr5:178003305-178003306	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565143746	chr5:178003317-178003318	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145511318	chr5:178003352-178003353	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542778270	chr5:178003358-178003359	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148418503	chr5:178003362-178003363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79737604	chr5:178003393-178003394	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537173941	chr5:178003396-178003397	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549046702	chr5:178003422-178003423	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs373424761	chr5:178003424-178003425	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs567363534	chr5:178003432-178003433	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs75139672	chr5:178003442-178003443	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs553392229	chr5:178003481-178003482	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs578165809	chr5:178003512-178003513	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs143303816	chr5:178003548-178003549	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs140816227	chr5:178003600-178003601	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557560445	chr5:178003625-178003626	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115772664	chr5:178003643-178003644	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542784341	chr5:178003727-178003728	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560965013	chr5:178003733-178003734	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs262051	chr5:178003912-178003913	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540196981	chr5:178003972-178003973	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs565049684	chr5:178004035-178004036	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10064288	chr5:178004040-178004041	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184889	chr5:178004081-178004082	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181661167	chr5:178004082-178004083	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529826852	chr5:178004099-178004100	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549112123	chr5:178004111-178004112	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs567375828	chr5:178004147-178004148	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528475947	chr5:178004152-178004153	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529859539	chr5:178004183-178004184	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186890653	chr5:178004232-178004233	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370712758	chr5:178004268-178004269	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570699199	chr5:178004272-178004273	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367762978	chr5:178004279-178004280	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557362404	chr5:178004383-178004384	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140338215	chr5:178004388-178004389	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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	21990379	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178000200-178003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:178002400-178003600	Bivalent Enhancer	Fetal Stomach	stomach
3	chr5:178002600-178003200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:178003000-178003200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:178003000-178003200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:178003000-178003400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr5:178003000-178003400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr5:178003000-178003600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:178003200-178003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:178003200-178003400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:178003200-178003600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr5:178003200-178004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:178003200-178005000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:178003400-178003600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr5:178003400-178003600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
16	chr5:178003400-178003800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:178003400-178003800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr5:178003400-178004000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr5:178003400-178004000	Active TSS	Right Ventricle	heart
20	chr5:178003400-178004400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr5:178003400-178004400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:178003400-178004800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:178003400-178004800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:178003400-178004800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:178003400-178004800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:178003400-178005000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:178003400-178005000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:178003400-178005000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:178003600-178003800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr5:178003600-178003800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:178003600-178003800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:178003600-178003800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr5:178003600-178003800	Bivalent Enhancer	Fetal Brain Male	brain
34	chr5:178003600-178003800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr5:178003600-178003800	Bivalent Enhancer	Placenta	Placenta
36	chr5:178003600-178003800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr5:178003600-178004000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:178003600-178004200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:178003600-178004200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:178003600-178004200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:178003600-178004200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:178003600-178004200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:178003600-178004200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:178003600-178004200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:178003600-178004200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:178003600-178004200	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr5:178003600-178004200	Active TSS	Left Ventricle	heart
48	chr5:178003600-178004200	Bivalent Enhancer	Lung	lung
49	chr5:178003600-178004200	Active TSS	Right Atrium	heart
50	chr5:178003600-178004200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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