Variant report

Variant	esv3447639
Chromosome Location	chr3:51129523-51158383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51137383..51138350-chr3:51409536..51410333,3	MCF-7	breast:
2	chr3:51137392..51138131-chr3:51409021..51409632,2	K562	blood:
3	chr3:51008918..51009575-chr3:51137618..51138247,3	MCF-7	breast:
4	chr3:51138102..51139900-chr3:51423797..51426404,2	MCF-7	breast:
5	chr3:51008595..51009447-chr3:51137461..51138173,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145050	chromatin interactions

Extended variants
information (count: 960 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4639007	chr3:51129552-51129553	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151102083	chr3:51129568-51129569	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564450841	chr3:51129572-51129573	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4434173	chr3:51129594-51129595	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540742966	chr3:51129613-51129614	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4639008	chr3:51129662-51129663	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs529088790	chr3:51129664-51129665	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377024595	chr3:51129734-51129735	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550461537	chr3:51129740-51129741	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190094297	chr3:51129763-51129764	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181829373	chr3:51129781-51129782	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139984417	chr3:51129812-51129813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144966190	chr3:51129834-51129835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113497469	chr3:51129848-51129849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555065512	chr3:51130012-51130013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567207146	chr3:51130043-51130044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186478388	chr3:51130065-51130066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113250311	chr3:51130067-51130068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557264107	chr3:51130138-51130139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115627076	chr3:51130207-51130208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201891758	chr3:51130255-51130256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567068914	chr3:51130309-51130310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546503040	chr3:51130344-51130345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558454296	chr3:51130361-51130362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189678116	chr3:51130403-51130404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182296478	chr3:51130429-51130430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562221007	chr3:51130446-51130447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529359010	chr3:51130460-51130461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113396491	chr3:51130494-51130495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141547442	chr3:51130509-51130510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533093402	chr3:51130552-51130553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147054648	chr3:51130618-51130619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373650156	chr3:51130707-51130708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145255117	chr3:51130713-51130714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527296688	chr3:51130727-51130728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191370554	chr3:51130751-51130752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112436185	chr3:51130766-51130767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149173528	chr3:51130794-51130795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537542955	chr3:51130802-51130803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557564301	chr3:51130860-51130861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569364521	chr3:51130895-51130896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540007871	chr3:51130950-51130951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558490297	chr3:51130963-51130964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542858405	chr3:51131035-51131036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183124307	chr3:51131111-51131112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559206741	chr3:51131119-51131120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534226307	chr3:51131157-51131158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555472382	chr3:51131161-51131162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60774727	chr3:51131170-51131171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188556978	chr3:51131327-51131328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51120600-51134400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:51120800-51143000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:51121000-51143000	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:51121000-51145200	Weak transcription	Fetal Brain Male	brain
5	chr3:51122000-51143000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:51122800-51143000	Weak transcription	Fetal Brain Female	brain
7	chr3:51123000-51132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:51124200-51143000	Weak transcription	Brain Germinal Matrix	brain
9	chr3:51125400-51143000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:51125400-51143200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:51125800-51134200	Weak transcription	Brain Anterior Caudate	brain
12	chr3:51128200-51132000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:51128200-51143800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:51128400-51129600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:51128400-51142800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:51129200-51129800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:51129200-51129800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:51129200-51129800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:51129200-51129800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:51129400-51129600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:51129400-51129800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:51129400-51129800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:51129600-51129800	Enhancers	Stomach Mucosa	stomach
24	chr3:51129600-51143200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:51129800-51132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:51129800-51137200	Weak transcription	Stomach Mucosa	stomach
27	chr3:51129800-51143600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:51132000-51132600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:51132000-51133600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:51132200-51132800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:51132400-51132800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:51132600-51132800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:51132600-51143800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:51134200-51134800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:51134200-51135000	Strong transcription	Brain Anterior Caudate	brain
36	chr3:51134400-51135600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr3:51135000-51137200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:51135000-51143800	Weak transcription	Brain Anterior Caudate	brain
39	chr3:51135600-51142600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:51136600-51136800	Enhancers	Fetal Lung	lung
41	chr3:51136600-51137800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:51136800-51139000	Weak transcription	Fetal Lung	lung
43	chr3:51137000-51137800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:51137200-51137800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:51137200-51137800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:51137200-51137800	Enhancers	Stomach Mucosa	stomach
47	chr3:51137200-51138000	Enhancers	Fetal Stomach	stomach
48	chr3:51137600-51137800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:51137600-51137800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:51137800-51138000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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