Variant report

Variant	esv3420303
Chromosome Location	chr12:122287669-122291867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122287626-122287786	K562	blood:	n/a	n/a
2	CTCF	chr12:122287560-122287710	HL-60	blood:	n/a	n/a
3	CTCF	chr12:122287627-122287726	K562	blood:	n/a	n/a
4	CTCF	chr12:122287560-122287710	GM12864	blood:	n/a	n/a
5	CTCF	chr12:122287615-122287743	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:122287611-122287729	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:122287600-122287750	GM12866	blood:	n/a	n/a
8	CTCF	chr12:122287660-122287810	NB4	blood:	n/a	n/a
9	CTCF	chr12:122287560-122287710	GM12873	blood:	n/a	n/a
10	CTCF	chr12:122287720-122287870	A549	lung:	n/a	n/a
11	CTCF	chr12:122287620-122287770	GM12868	blood:	n/a	n/a
12	CTCF	chr12:122287640-122287790	HepG2	liver:	n/a	n/a
13	CTCF	chr12:122287560-122287710	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:122287600-122287750	GM12871	blood:	n/a	n/a
15	CTCF	chr12:122287580-122287730	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:122287580-122287730	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr12:122287520-122287670	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr12:122287660-122287810	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr12:122287620-122287770	GM12875	blood:	n/a	n/a
20	CTCF	chr12:122287590-122287782	K562	blood:	n/a	n/a
21	CTCF	chr12:122287620-122287770	K562	blood:	n/a	n/a
22	CTCF	chr12:122287540-122287690	HEK293	kidney:	n/a	n/a
23	EBF1	chr12:122287781-122288013	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:122288520-122288685	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:122290052-122290090	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:122287982-122287984	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:122287429-122288095	HL-60	blood:	n/a	n/a
28	POLR2A	chr12:122291192-122291193	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:122288009-122288068	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:122291229-122291230	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:122288820-122288844	K562	blood:	n/a	n/a
32	POLR2A	chr12:122288820-122288853	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:122288874-122289149	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:122287391-122288010	HL-60	blood:	n/a	n/a
35	POLR2A	chr12:122287436-122287972	HepG2	liver:	n/a	n/a
36	RAD21	chr12:122287672-122287689	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr12:122287615-122287724	HepG2	liver:	n/a	n/a
38	RAD21	chr12:122287527-122287908	H1-hESC	embryonic stem cell:	n/a	n/a
39	RCOR1	chr12:122287705-122287766	K562	blood:	n/a	n/a
40	SMC3	chr12:122287638-122287721	HepG2	liver:	n/a	n/a
41	SPI1	chr12:122287676-122287942	K562	blood:	n/a	n/a
42	SPI1	chr12:122287653-122287990	GM12878	blood:	n/a	n/a
43	SPI1	chr12:122287687-122288031	HL-60	blood:	n/a	n/a
44	SPI1	chr12:122287679-122287973	GM12891	blood:	n/a	n/a
45	SPI1	chr12:122287655-122287965	K562	blood:	n/a	n/a
46	SPI1	chr12:122287606-122287933	GM12891	blood:	n/a	n/a
47	SPI1	chr12:122287498-122288085	HL-60	blood:	n/a	n/a
48	ZNF143	chr12:122287718-122287942	K562	blood:	n/a	n/a
49	ZNF143	chr12:122287786-122287884	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF384	chr12:122288354-122288578	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122284827..122287337-chr12:122291001..122292909,2	MCF-7	breast:
2	chr12:122283312..122286212-chr12:122291727..122293829,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256811	TF binding region
HPD	TF binding region

Extended variants
information (count: 214 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112026484	chr12:122287698-122287699	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534922913	chr12:122287700-122287701	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs368564039	chr12:122287721-122287722	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371165053	chr12:122287722-122287723	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572003940	chr12:122287725-122287726	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368832932	chr12:122287743-122287744	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539329246	chr12:122287749-122287750	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143093488	chr12:122287768-122287769	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569552626	chr12:122287775-122287776	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537007835	chr12:122287817-122287818	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148219678	chr12:122287852-122287853	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573649797	chr12:122287862-122287863	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112637816	chr12:122287884-122287885	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1449562	chr12:122287885-122287886	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs577556882	chr12:122287902-122287903	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532059538	chr12:122287924-122287925	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186666878	chr12:122287927-122287928	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563196843	chr12:122288010-122288011	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191466417	chr12:122288017-122288018	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114456337	chr12:122288055-122288056	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369346819	chr12:122288079-122288080	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561249233	chr12:122288121-122288122	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528566050	chr12:122288143-122288144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183957628	chr12:122288144-122288145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539068739	chr12:122288168-122288169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2855414	chr12:122288171-122288172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571863857	chr12:122288182-122288183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532702837	chr12:122288184-122288185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572453170	chr12:122288188-122288189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10840622	chr12:122288202-122288203	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs557285952	chr12:122288239-122288240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377415958	chr12:122288295-122288296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369600060	chr12:122288311-122288312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536479295	chr12:122288327-122288328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138176126	chr12:122288332-122288333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572420297	chr12:122288379-122288380	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187150010	chr12:122288403-122288404	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs567285153	chr12:122288441-122288442	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534405224	chr12:122288442-122288443	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552795842	chr12:122288449-122288450	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112016553	chr12:122288494-122288495	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577419754	chr12:122288511-122288512	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192857519	chr12:122288544-122288545	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115020520	chr12:122288553-122288554	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2515731	chr12:122288559-122288560	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2442440	chr12:122288583-122288584	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2442441	chr12:122288596-122288597	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11043212	chr12:122288626-122288627	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542550608	chr12:122288678-122288679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556992656	chr12:122288707-122288708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
4	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122281800-122288600	Strong transcription	Liver	Liver
7	chr12:122282000-122287800	Weak transcription	K562	blood
8	chr12:122284200-122287800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:122287000-122288400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:122287200-122288000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:122287200-122288000	Enhancers	Primary B cells from cord blood	blood
12	chr12:122287400-122288000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:122287600-122287800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:122287600-122292400	Weak transcription	HepG2	liver
15	chr12:122287800-122288000	Enhancers	K562	blood
16	chr12:122287800-122288200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:122287800-122292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:122288000-122288200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:122288000-122288800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:122288200-122292600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:122288400-122292600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:122288600-122290000	Weak transcription	Liver	Liver
23	chr12:122288800-122292600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:122290000-122292000	Strong transcription	Liver	Liver
25	chr12:122291200-122295400	Weak transcription	Pancreas	Pancrea

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