Variant report

Variant	esv11055
Chromosome Location	chr2:231437916-231440779
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	ATF3	chr2:231440402-231440663	K562	blood:	n/a	n/a
2	CBX3	chr2:231440344-231440726	K562	blood:	n/a	n/a
3	CTCF	chr2:231440140-231440290	HepG2	liver:	n/a	n/a
4	E2F6	chr2:231440466-231440616	K562	blood:	n/a	n/a
5	EP300	chr2:231440532-231440642	K562	blood:	n/a	n/a
6	FOSL1	chr2:231440361-231440717	K562	blood:	n/a	chr2:231440575-231440584
7	GABPA	chr2:231438461-231438645	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr2:231437834-231438207	MCF-7	breast:	n/a	n/a
9	HCFC1	chr2:231440498-231440638	K562	blood:	n/a	n/a
10	HEY1	chr2:231438502-231438678	K562	blood:	n/a	n/a
11	HEY1	chr2:231438539-231438674	HepG2	liver:	n/a	n/a
12	IRF1	chr2:231440416-231440701	K562	blood:	n/a	n/a
13	JUN	chr2:231440230-231440857	K562	blood:	n/a	chr2:231440575-231440584
14	JUND	chr2:231440426-231440597	HepG2	liver:	n/a	chr2:231440575-231440584 chr2:231440574-231440585
15	JUND	chr2:231440398-231440760	K562	blood:	n/a	chr2:231440575-231440584 chr2:231440574-231440585
16	MAX	chr2:231440341-231440741	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
17	MAX	chr2:231440263-231440849	HCT-116	colon:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
18	MAX	chr2:231440403-231440668	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
19	MAX	chr2:231440365-231440689	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
20	MAX	chr2:231440402-231440678	SK-N-SH	brain:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
21	MAX	chr2:231440356-231440747	NB4	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
22	MAZ	chr2:231440495-231440619	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
23	MXI1	chr2:231440446-231440657	K562	blood:	n/a	chr2:231440531-231440540
24	MYC	chr2:231440391-231440718	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
25	MYC	chr2:231440358-231440711	NB4	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
26	MYC	chr2:231440397-231440711	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
27	NR2F2	chr2:231437657-231437971	K562	blood:	n/a	n/a
28	PAX5	chr2:231438455-231438650	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:231437967-231438307	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:231438444-231438659	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:231439727-231439861	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:231440074-231440123	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:231440041-231440065	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:231438484-231438654	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:231440319-231440664	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:231438484-231438698	A549	lung:	n/a	n/a
37	POLR2A	chr2:231438459-231438638	GM12891	blood:	n/a	n/a
38	POLR2A	chr2:231437816-231438006	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:231438416-231438636	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr2:231440500-231440556	K562	blood:	n/a	n/a
41	POLR2A	chr2:231438498-231438595	A549	lung:	n/a	n/a
42	POLR2A	chr2:231440245-231440445	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:231438331-231438844	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:231438352-231438672	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:231437746-231437916	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:231439986-231440180	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:231438454-231438631	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr2:231440506-231440530	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:231438345-231438860	GM12892	blood:	n/a	n/a
50	RCOR1	chr2:231440507-231440526	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP110-1	chr2:231440637-231440741	ENSG00000235419.1
2	lnc-SP110-1	chr2:231440637-231440741	ENSG00000235419.1

Variant related genes	Relation type
TPM3P8	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs145921249	chr2:231437940-231437941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556790930	chr2:231437951-231437952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568578912	chr2:231438000-231438001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185052682	chr2:231438001-231438002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553495154	chr2:231438058-231438059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373526988	chr2:231438062-231438063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571796577	chr2:231438094-231438095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55795378	chr2:231438097-231438098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557332420	chr2:231438126-231438127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191084701	chr2:231438180-231438181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56007290	chr2:231438198-231438199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531595903	chr2:231438213-231438214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62192833	chr2:231438225-231438226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561999519	chr2:231438260-231438261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138964938	chr2:231438275-231438276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17276229	chr2:231438296-231438297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181736871	chr2:231438297-231438298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185895517	chr2:231438337-231438338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17276271	chr2:231438347-231438348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570881727	chr2:231438350-231438351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370122501	chr2:231438372-231438373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550232971	chr2:231438380-231438381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568718416	chr2:231438387-231438388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62192834	chr2:231438388-231438389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191688458	chr2:231438399-231438400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62192835	chr2:231438421-231438422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183081611	chr2:231438466-231438467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557404490	chr2:231438494-231438495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73104812	chr2:231438502-231438503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555961811	chr2:231438506-231438507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569714639	chr2:231438519-231438520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543390370	chr2:231438530-231438531	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543909245	chr2:231438545-231438546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112324089	chr2:231438559-231438560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573876757	chr2:231438566-231438567	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541280178	chr2:231438569-231438570	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559596571	chr2:231438591-231438592	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs17276306	chr2:231438600-231438601	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149552366	chr2:231438606-231438607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs564580719	chr2:231438624-231438625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112672516	chr2:231438625-231438626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550148360	chr2:231438648-231438649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs559485948	chr2:231438649-231438650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62192836	chr2:231438650-231438651	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140076330	chr2:231438672-231438673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs73104822	chr2:231438673-231438674	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188364013	chr2:231438731-231438732	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539623652	chr2:231438745-231438746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs551096514	chr2:231438767-231438768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs68007066	chr2:231438781-231438782	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231436600-231440000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:231439400-231440800	ZNF genes & repeats	GM12878-XiMat	blood
3	chr2:231439800-231440200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:231439800-231440600	Enhancers	Placenta	Placenta
5	chr2:231439800-231440800	Enhancers	Fetal Thymus	thymus
6	chr2:231439800-231443800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:231440000-231440200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr2:231440000-231440600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:231440000-231440800	Enhancers	K562	blood
10	chr2:231440000-231441000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:231440000-231441000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:231440000-231442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:231440000-231442600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:231440200-231440400	Enhancers	Primary T cells from cord blood	blood
15	chr2:231440200-231440400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:231440200-231440800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr2:231440200-231443400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:231440400-231440600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:231440400-231440800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:231440400-231440800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:231440400-231440800	Active TSS	A549	lung
22	chr2:231440400-231441200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:231440600-231443400	Enhancers	Primary T cells from cord blood	blood

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