Variant report

Variant	esv1794133
Chromosome Location	chr2:140887283-140931340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:140916623-140916807	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:140925281-140925402	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:140912996-140913288	IMR90	lung:	n/a	chr2:140913112-140913125 chr2:140913112-140913123 chr2:140913113-140913124 chr2:140913114-140913123
4	CEBPB	chr2:140912959-140913283	HepG2	liver:	n/a	chr2:140913112-140913125 chr2:140913112-140913123 chr2:140913113-140913124 chr2:140913114-140913123
5	CEBPB	chr2:140892225-140892510	HepG2	liver:	n/a	chr2:140892346-140892357 chr2:140892345-140892358
6	CEBPB	chr2:140923947-140923965	HepG2	liver:	n/a	chr2:140923948-140923959
7	CEBPB	chr2:140901082-140901320	HepG2	liver:	n/a	chr2:140901239-140901252 chr2:140901200-140901211 chr2:140901200-140901213 chr2:140901200-140901213
8	CTCF	chr2:140922133-140922293	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:140922080-140922230	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr2:140922200-140922350	AG09319	gingival:	n/a	n/a
11	CTCF	chr2:140928620-140928770	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:140922140-140922290	RPTEC	kidney:	n/a	n/a
13	CTCF	chr2:140922134-140922284	Gliobla	brain:	n/a	n/a
14	CTCF	chr2:140928620-140928770	RPTEC	kidney:	n/a	n/a
15	CTCF	chr2:140922162-140922226	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:140922120-140922270	HPF	lung:	n/a	n/a
17	CTCF	chr2:140922120-140922270	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr2:140922100-140922350	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr2:140928712-140928779	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr2:140928660-140928810	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr2:140922158-140922232	LNCaP	prostate:	n/a	n/a
22	CTCF	chr2:140914260-140914410	HepG2	liver:	n/a	n/a
23	CTCF	chr2:140922120-140922270	AG09319	gingival:	n/a	n/a
24	CTCF	chr2:140922100-140922250	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr2:140928620-140928770	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr2:140911920-140912070	HepG2	liver:	n/a	n/a
27	CTCF	chr2:140922100-140922250	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:140922100-140922250	HRE	kidney:	n/a	n/a
29	CTCF	chr2:140922140-140922290	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr2:140928640-140928790	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr2:140922080-140922230	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:140922180-140922330	RPTEC	kidney:	n/a	n/a
33	CTCF	chr2:140922138-140922251	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:140928580-140928730	HEK293	kidney:	n/a	n/a
35	CTCF	chr2:140887641-140887690	GM10266	blood:	n/a	n/a
36	CTCF	chr2:140928660-140928810	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:140922180-140922330	HCM	heart:	n/a	n/a
38	CTCF	chr2:140922140-140922290	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr2:140922140-140922290	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr2:140922148-140922237	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:140922120-140922270	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr2:140922142-140922286	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:140922160-140922310	BE2_C	brain:	n/a	n/a
44	CUX1	chr2:140923271-140923320	GM12878	blood:	n/a	n/a
45	E2F4	chr2:140894373-140894630	MCF10A-Er-Src	breast:	n/a	n/a
46	IRF1	chr2:140899847-140899939	K562	blood:	n/a	n/a
47	JUN	chr2:140888093-140888199	HepG2	liver:	n/a	chr2:140888161-140888174
48	JUND	chr2:140888032-140888245	HepG2	liver:	n/a	n/a
49	MAFF	chr2:140915446-140916145	K562	blood:	n/a	chr2:140916018-140916036
50	MAFF	chr2:140923851-140923918	K562	blood:	n/a	chr2:140923884-140923898 chr2:140923878-140923896

No.	Distal block	Cell Line	Cell type
1	chr2:140899841..140902459-chr2:140909535..140911478,2	MCF-7	breast:
2	chr2:140920282..140923198-chr8:145549276..145551950,2	MCF-7	breast:
3	chr2:140899841..140902459-chr2:140909535..140911478,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP1B-2	chr2:140889211-140889349	XLOC_002340

Variant related genes	Relation type
ENSG00000224028	TF binding region
ENSG00000185000	chromatin interactions

Extended variants
information (count: 388 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529431507	chr2:140889225-140889226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs539846983	chr2:140889246-140889247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs367677843	chr2:140889249-140889250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560193148	chr2:140889404-140889405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561469745	chr2:140889415-140889416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529161502	chr2:140889424-140889425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549315623	chr2:140889433-140889434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78036611	chr2:140889445-140889446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531389220	chr2:140889455-140889456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188249356	chr2:140889456-140889457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139849723	chr2:140889503-140889504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569157594	chr2:140889578-140889579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574006767	chr2:140889590-140889591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533469933	chr2:140889621-140889622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190943629	chr2:140889646-140889647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111558597	chr2:140889699-140889700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs116905851	chr2:140889758-140889759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535718188	chr2:140889783-140889784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147938938	chr2:140889795-140889796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569246011	chr2:140889826-140889827	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538048039	chr2:140889862-140889863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs558380674	chr2:140889869-140889870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538617062	chr2:140892263-140892264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181811199	chr2:140892265-140892266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186495948	chr2:140892287-140892288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs16843367	chr2:140892295-140892296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534615367	chr2:140892323-140892324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373423118	chr2:140892359-140892360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554311029	chr2:140892395-140892396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574313958	chr2:140892405-140892406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539478394	chr2:140892473-140892474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs16843374	chr2:140892481-140892482	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142644551	chr2:140892598-140892599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542883962	chr2:140892608-140892609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145699011	chr2:140893037-140893038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537243294	chr2:140893039-140893040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185383795	chr2:140893041-140893042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576440360	chr2:140893059-140893060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375287496	chr2:140893073-140893074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545186361	chr2:140893076-140893077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558882430	chr2:140893080-140893081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6756591	chr2:140893111-140893112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541469262	chr2:140893216-140893217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138122371	chr2:140893222-140893223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116610481	chr2:140893235-140893236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543951151	chr2:140893277-140893278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115613003	chr2:140893300-140893301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532201679	chr2:140893345-140893346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189692696	chr2:140893408-140893409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565465579	chr2:140893422-140893423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Mental retardation	17621639	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:140893000-140894600	Enhancers	Fetal Brain Male	brain
2	chr2:140893400-140894800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:140893400-140895000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:140893600-140894600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:140893600-140894600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:140893600-140894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:140893600-140895000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:140894000-140894600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:140894000-140894600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:140894000-140895000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:140894400-140894800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:140894800-140898600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:140898400-140898800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:140898400-140898800	Enhancers	Pancreas	Pancrea
15	chr2:140912000-140913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:140912200-140912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:140920400-140920800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:140920400-140920800	Active TSS	NH-A	brain

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