Variant report

Variant	esv1797398
Chromosome Location	chr2:48851820-48870365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:48860293-48860625	K562	blood:	n/a	n/a
2	CEBPB	chr2:48862820-48862911	IMR90	lung:	n/a	n/a
3	CEBPD	chr2:48860224-48860663	K562	blood:	n/a	n/a
4	CEBPD	chr2:48860331-48860701	K562	blood:	n/a	n/a
5	CHD1	chr2:48861003-48861083	GM12878	blood:	n/a	n/a
6	CTCF	chr2:48862020-48862170	GM12870	blood:	n/a	n/a
7	CTCF	chr2:48861940-48862090	GM12872	blood:	n/a	n/a
8	CTCF	chr2:48861940-48862090	GM12873	blood:	n/a	n/a
9	CTCF	chr2:48862000-48862150	HepG2	liver:	n/a	n/a
10	CTCF	chr2:48863091-48863146	GM13976	blood:	n/a	n/a
11	CTCF	chr2:48862000-48862150	GM12864	blood:	n/a	n/a
12	EGR1	chr2:48860392-48860681	K562	blood:	n/a	n/a
13	EGR1	chr2:48860430-48860684	K562	blood:	n/a	n/a
14	EP300	chr2:48860367-48860629	K562	blood:	n/a	n/a
15	GABPA	chr2:48860356-48860548	K562	blood:	n/a	n/a
16	GABPA	chr2:48860392-48860634	K562	blood:	n/a	n/a
17	GATA2	chr2:48860299-48860659	K562	blood:	n/a	n/a
18	JUND	chr2:48860459-48860631	K562	blood:	n/a	n/a
19	JUND	chr2:48863087-48863187	HepG2	liver:	n/a	chr2:48863100-48863111
20	KAP1	chr2:48868551-48868740	K562	blood:	n/a	n/a
21	KAP1	chr2:48853428-48853555	K562	blood:	n/a	n/a
22	KAP1	chr2:48853198-48853619	HEK293	kidney:	n/a	n/a
23	MYC	chr2:48860444-48860796	K562	blood:	n/a	n/a
24	PML	chr2:48860237-48860742	K562	blood:	n/a	n/a
25	POLR2A	chr2:48863714-48863814	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:48862674-48862681	A549	lung:	n/a	n/a
27	POLR2A	chr2:48862767-48862774	A549	lung:	n/a	n/a
28	POLR2A	chr2:48862574-48862632	A549	lung:	n/a	n/a
29	POLR2A	chr2:48860356-48860653	K562	blood:	n/a	n/a
30	POLR2A	chr2:48862686-48862716	A549	lung:	n/a	n/a
31	POLR2A	chr2:48862920-48863165	ProgFib	skin:	n/a	n/a
32	POLR2A	chr2:48860993-48861050	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:48861222-48861346	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:48862294-48862345	A549	lung:	n/a	n/a
35	POLR2A	chr2:48862640-48862655	A549	lung:	n/a	n/a
36	RCOR1	chr2:48860336-48860681	K562	blood:	n/a	n/a
37	RCOR1	chr2:48860477-48860611	K562	blood:	n/a	n/a
38	SETDB1	chr2:48853200-48853599	U2OS	brain:	n/a	n/a
39	STAT3	chr2:48868094-48868239	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr2:48860343-48860659	K562	blood:	n/a	n/a
41	TBL1XR1	chr2:48860458-48860524	K562	blood:	n/a	n/a
42	TEAD4	chr2:48860268-48860754	K562	blood:	n/a	n/a
43	TEAD4	chr2:48860185-48860844	K562	blood:	n/a	n/a
44	ZNF143	chr2:48853275-48853382	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHCGR-1	chr2:48859995-48860492	NONHSAT070628
2	lnc-LHCGR-1	chr2:48859428-48860260	NONHSAT070627

No data

Variant related genes	Relation type
TPT1P11	TF binding region

Extended variants
information (count: 820 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6705189	chr2:48851820-48851821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539693677	chr2:48851834-48851835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551552037	chr2:48851882-48851883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566903339	chr2:48851896-48851897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377285388	chr2:48851902-48851903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76595721	chr2:48851911-48851912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573722173	chr2:48851955-48851956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544296196	chr2:48851958-48851959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562438704	chr2:48851976-48851977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532298167	chr2:48851986-48851987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555747634	chr2:48852038-48852039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532994937	chr2:48852045-48852046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371494929	chr2:48852059-48852060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183366550	chr2:48852134-48852135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556740716	chr2:48852138-48852139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578136949	chr2:48852158-48852159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34206180	chr2:48852178-48852179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545476595	chr2:48852207-48852208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545002855	chr2:48852272-48852273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572925777	chr2:48852305-48852306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540536771	chr2:48852341-48852342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115397499	chr2:48852359-48852360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376630716	chr2:48852363-48852364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564797521	chr2:48852422-48852423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543803851	chr2:48852470-48852471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193096945	chr2:48852506-48852507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528816436	chr2:48852531-48852532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532875190	chr2:48852532-48852533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547279281	chr2:48852543-48852544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551031424	chr2:48852560-48852561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185706320	chr2:48852562-48852563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141552540	chr2:48852654-48852655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538811021	chr2:48852701-48852702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549676791	chr2:48852732-48852733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114830857	chr2:48852743-48852744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538283020	chr2:48852747-48852748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556605514	chr2:48852778-48852779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571622963	chr2:48852835-48852836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186512560	chr2:48852852-48852853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568647336	chr2:48852875-48852876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553941817	chr2:48852907-48852908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145310491	chr2:48852927-48852928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540034889	chr2:48852944-48852945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191334757	chr2:48852970-48852971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573845929	chr2:48852974-48852975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141695870	chr2:48852984-48852985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75875980	chr2:48853008-48853009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6709346	chr2:48853032-48853033	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544735239	chr2:48853034-48853035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79033228	chr2:48853045-48853046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:48847000-48853000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:48853000-48853400	ZNF genes & repeats	Colon Smooth Muscle	Colon
5	chr2:48853000-48854000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr2:48853400-48853800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:48859600-48860000	ZNF genes & repeats	Ovary	ovary
9	chr2:48860000-48862000	Weak transcription	Ovary	ovary
10	chr2:48860200-48860600	Enhancers	K562	blood
11	chr2:48860400-48860600	Enhancers	Lung	lung
12	chr2:48860400-48860600	ZNF genes & repeats	Right Atrium	heart
13	chr2:48860600-48862000	Weak transcription	Lung	lung
14	chr2:48860600-48863000	Weak transcription	Right Atrium	heart
15	chr2:48862000-48862200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:48862000-48862800	ZNF genes & repeats	Lung	lung
17	chr2:48862000-48863000	ZNF genes & repeats	Aorta	Aorta
18	chr2:48862000-48863000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:48862000-48863200	Strong transcription	Ovary	ovary
20	chr2:48862200-48862600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:48862600-48863000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:48862600-48863400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:48863000-48898200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:48863200-48873600	Weak transcription	Ovary	ovary
26	chr2:48868600-48869000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:48869800-48915400	Weak transcription	Adipose Nuclei	Adipose

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