Variant report

Variant	esv1802545
Chromosome Location	chr2:55668771-55687618
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	ARID3A	chr2:55687010-55687270	K562	blood:	n/a	n/a
2	ATF1	chr2:55686492-55686745	K562	blood:	n/a	n/a
3	ATF1	chr2:55668598-55669016	K562	blood:	n/a	n/a
4	ATF3	chr2:55668631-55668999	K562	blood:	n/a	n/a
5	BHLHE40	chr2:55687159-55687554	K562	blood:	n/a	n/a
6	CBX3	chr2:55686408-55687583	K562	blood:	n/a	n/a
7	CEBPD	chr2:55668581-55668997	K562	blood:	n/a	n/a
8	CREB1	chr2:55668553-55669043	K562	blood:	n/a	n/a
9	CTCF	chr2:55682918-55683033	GM20000	blood:	n/a	n/a
10	CTCF	chr2:55670492-55670537	GM10266	blood:	n/a	n/a
11	EGR1	chr2:55686942-55687351	K562	blood:	n/a	n/a
12	EGR1	chr2:55686905-55687222	K562	blood:	n/a	n/a
13	EP300	chr2:55684518-55684536	K562	blood:	n/a	n/a
14	EP300	chr2:55668607-55669033	K562	blood:	n/a	n/a
15	EP300	chr2:55687422-55687793	K562	blood:	n/a	chr2:55687747-55687761
16	EP300	chr2:55686530-55687190	K562	blood:	n/a	chr2:55686532-55686542
17	FOXA1	chr2:55669513-55669804	HepG2	liver:	n/a	n/a
18	FOXA1	chr2:55669524-55669971	HepG2	liver:	n/a	n/a
19	FOXA2	chr2:55669548-55669911	A549	lung:	n/a	n/a
20	FOXA2	chr2:55669313-55670071	A549	lung:	n/a	n/a
21	GATA1	chr2:55668290-55669044	K562	blood:	n/a	chr2:55668531-55668541 chr2:55668533-55668540 chr2:55668533-55668540 chr2:55668533-55668540
22	HCFC1	chr2:55687236-55687393	K562	blood:	n/a	n/a
23	IRF1	chr2:55687050-55688084	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924
24	JUN	chr2:55668668-55668983	K562	blood:	n/a	chr2:55668817-55668830
25	JUN	chr2:55668615-55668990	K562	blood:	n/a	chr2:55668817-55668830
26	JUN	chr2:55668703-55668921	HepG2	liver:	n/a	chr2:55668817-55668830
27	JUN	chr2:55686877-55687214	K562	blood:	n/a	n/a
28	JUN	chr2:55668657-55668953	K562	blood:	n/a	chr2:55668817-55668830
29	JUND	chr2:55686480-55686642	K562	blood:	n/a	n/a
30	JUND	chr2:55668682-55668964	HepG2	liver:	n/a	n/a
31	JUND	chr2:55686865-55687374	K562	blood:	n/a	n/a
32	JUND	chr2:55668442-55669013	K562	blood:	n/a	n/a
33	MAFK	chr2:55686934-55687217	K562	blood:	n/a	n/a
34	MAX	chr2:55669226-55669612	MCF-7	breast:	n/a	n/a
35	MAX	chr2:55668651-55668917	K562	blood:	n/a	n/a
36	MAZ	chr2:55686488-55687289	K562	blood:	n/a	n/a
37	MYC	chr2:55668610-55668972	K562	blood:	n/a	n/a
38	MYC	chr2:55669375-55669414	MCF-7	breast:	n/a	n/a
39	MYC	chr2:55668633-55668923	K562	blood:	n/a	n/a
40	NR2F2	chr2:55686868-55687327	K562	blood:	n/a	n/a
41	NR2F2	chr2:55686795-55687577	K562	blood:	n/a	n/a
42	PAX5	chr2:55680107-55680553	GM12892	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
43	PAX5	chr2:55680143-55680392	GM12878	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
44	PAX5	chr2:55680009-55680561	GM12878	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
45	PAX5	chr2:55680080-55680465	GM12878	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
46	PAX5	chr2:55680086-55680503	GM12878	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
47	PAX5	chr2:55680141-55680436	GM12892	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
48	PAX5	chr2:55680019-55680509	GM12891	blood:	n/a	chr2:55680274-55680283 chr2:55680274-55680292 chr2:55680273-55680290 chr2:55680273-55680292
49	POLR2A	chr2:55669306-55669445	A549	lung:	n/a	n/a
50	POLR2A	chr2:55669322-55669430	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55669512-55669562	HRCEpiC	kidney:	n/a
2	chr2:55669512-55669562	Jurkat	blood:	n/a
3	chr2:55669528-55669578	HRPEpiC	eye:	n/a
4	chr2:55669512-55669562	GM12878	blood:	n/a
5	chr2:55669528-55669578	Jurkat	blood:	n/a
6	chr2:55669512-55669562	Hepatocyte	liver:	n/a
7	chr2:55669528-55669578	SKMC	muscle:	n/a
8	chr2:55669512-55669562	HCF	heart:	n/a
9	chr2:55669512-55669562	SK-N-MC	brain:	n/a
10	chr2:55669512-55669562	HRPEpiC	eye:	n/a
11	chr2:55669512-55669562	AG10803	skin:	n/a
12	chr2:55669512-55669562	AG04449	skin:	fetal
13	chr2:55669528-55669578	AG10803	skin:	n/a
14	chr2:55669528-55669578	Hepatocyte	liver:	n/a
15	chr2:55669512-55669562	BJ	skin:	n/a
16	chr2:55669512-55669562	SK-N-SH	brain:	n/a
17	chr2:55669512-55669562	HUVEC	blood vessel:	n/a
18	chr2:55669512-55669562	MCF10A-Er-Src	breast:	n/a
19	chr2:55669528-55669578	AG09319	gingival:	n/a
20	chr2:55669528-55669578	GM19239	blood:	n/a
21	chr2:55669528-55669578	HMEC	breast:	n/a
22	chr2:55669512-55669562	AG04450	lung:	fetal
23	chr2:55669512-55669562	HepG2	liver:	n/a
24	chr2:55669528-55669578	NB4	blood:	n/a
25	chr2:55669528-55669578	BE2_C	brain:	n/a
26	chr2:55669528-55669578	LNCaP	prostate:	n/a
27	chr2:55669512-55669562	ProgFib	skin:	n/a
28	chr2:55669512-55669562	HMEC	breast:	n/a
29	chr2:55669512-55669562	NT2-D1	testis:	n/a
30	chr2:55669512-55669562	HL-60	blood:	n/a
31	chr2:55669528-55669578	GM12878	blood:	n/a
32	chr2:55669512-55669562	HCM	heart:	n/a
33	chr2:55669512-55669562	U87	brain:	n/a
34	chr2:55669528-55669578	IMR90	lung:	fetal
35	chr2:55669512-55669562	A549	lung:	n/a
36	chr2:55669512-55669562	GM12892	blood:	n/a
37	chr2:55669512-55669562	GM19239	blood:	n/a
38	chr2:55669512-55669562	NHDF-neo	bronchial:	n/a
39	chr2:55669528-55669578	GM12891	blood:	n/a
40	chr2:55669512-55669562	GM06990	blood:	n/a
41	chr2:55669512-55669562	MCF-7	breast:	n/a
42	chr2:55669528-55669578	K562	blood:	n/a
43	chr2:55669528-55669578	A549	lung:	n/a
44	chr2:55669528-55669578	HCF	heart:	n/a
45	chr2:55669528-55669578	HL-60	blood:	n/a
46	chr2:55669528-55669578	ECC-1	luminal epithelium:	n/a
47	chr2:55669512-55669562	K562	blood:	n/a
48	chr2:55669528-55669578	HUVEC	blood vessel:	n/a
49	chr2:55669512-55669562	BE2_C	brain:	n/a
50	chr2:55669528-55669578	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:
2	chr2:55685859..55688576-chr2:55704168..55705704,2	K562	blood:
3	chr2:55685859..55689699-chr2:55700621..55705668,4	K562	blood:
4	chr2:55676747..55678415-chr2:55678423..55681362,2	K562	blood:
5	chr2:55461063..55464036-chr2:55678930..55681673,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-221P	TF binding region
RNU6-775P	TF binding region
RNU6-221P	CpG island
RNU6-775P	CpG island
ENSG00000238619	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13028756	chr2:55668771-55668772	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74514652	chr2:55668775-55668776	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184463309	chr2:55668779-55668780	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529010571	chr2:55668794-55668795	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146124104	chr2:55668795-55668796	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563814837	chr2:55668807-55668808	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6745759	chr2:55668829-55668830	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs139924112	chr2:55668832-55668833	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531659766	chr2:55668847-55668848	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55652944	chr2:55668861-55668862	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534875849	chr2:55668876-55668877	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200808595	chr2:55668950-55668951	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56409619	chr2:55669004-55669005	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112878836	chr2:55669010-55669011	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184784105	chr2:55669020-55669021	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577034206	chr2:55669035-55669036	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539567844	chr2:55669036-55669037	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373825428	chr2:55669045-55669046	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7423127	chr2:55669084-55669085	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553087598	chr2:55669085-55669086	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372950088	chr2:55669102-55669103	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375654317	chr2:55669104-55669105	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537860328	chr2:55669105-55669106	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533776403	chr2:55669121-55669122	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189693950	chr2:55669141-55669142	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143966406	chr2:55669145-55669146	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181039703	chr2:55669156-55669157	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543816799	chr2:55669208-55669209	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560461631	chr2:55669215-55669216	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563507324	chr2:55669261-55669262	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532353374	chr2:55669278-55669279	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552290175	chr2:55669284-55669285	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559414700	chr2:55669294-55669295	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528662455	chr2:55669319-55669320	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6749238	chr2:55669326-55669327	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185224316	chr2:55669338-55669339	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537316436	chr2:55669344-55669345	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189595054	chr2:55669350-55669351	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114686010	chr2:55669365-55669366	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539430900	chr2:55669372-55669373	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79572372	chr2:55669378-55669379	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553150769	chr2:55669379-55669380	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113409076	chr2:55669383-55669384	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572929335	chr2:55669395-55669396	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535649361	chr2:55669398-55669399	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72801524	chr2:55669403-55669404	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575517954	chr2:55669407-55669408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544209524	chr2:55669408-55669409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557616676	chr2:55669409-55669410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78715583	chr2:55669418-55669419	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ependymoma	20639864	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55668400-55669400	Enhancers	K562	blood
2	chr2:55668600-55669000	Flanking Active TSS	A549	lung
3	chr2:55669000-55669600	Active TSS	A549	lung
4	chr2:55678600-55679200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:55678800-55679200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:55678800-55679200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:55678800-55679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:55678800-55679200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55678800-55679200	Enhancers	NHEK	skin
10	chr2:55679200-55681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:55680000-55680400	Enhancers	Fetal Kidney	kidney
12	chr2:55680000-55680600	Enhancers	GM12878-XiMat	blood
13	chr2:55681400-55681600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:55681400-55683400	Enhancers	Fetal Heart	heart
15	chr2:55684400-55685000	Enhancers	K562	blood
16	chr2:55685000-55686200	Weak transcription	K562	blood
17	chr2:55686200-55686600	Enhancers	K562	blood
18	chr2:55686600-55688200	Flanking Active TSS	K562	blood
19	chr2:55687200-55687800	Active TSS	Osteobl	bone
20	chr2:55687600-55688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:55687600-55688200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:55687600-55688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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