Variant report

Variant	esv1803653
Chromosome Location	chr12:48905575-48923774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:734)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:48922755-48922757	K562	blood:	n/a	n/a
2	ATF2	chr12:48906507-48907069	GM12878	blood:	n/a	n/a
3	ATF2	chr12:48906593-48907092	GM12878	blood:	n/a	n/a
4	BATF	chr12:48906678-48906976	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:48906701-48907018	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:48906637-48907082	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:48905873-48906047	HepG2	liver:	n/a	n/a
8	CHD1	chr12:48906593-48906608	GM12878	blood:	n/a	n/a
9	CREB1	chr12:48906598-48907249	GM12878	blood:	n/a	n/a
10	CTCF	chr12:48919520-48919670	A549	lung:	n/a	n/a
11	CTCF	chr12:48922140-48922290	GM12865	blood:	n/a	n/a
12	CTCF	chr12:48919751-48919840	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:48919737-48919874	A549	lung:	n/a	n/a
14	CTCF	chr12:48919736-48919865	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:48919747-48919830	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:48919783-48919803	GM19239	blood:	n/a	n/a
17	CTCF	chr12:48919743-48919868	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:48912307-48912352	GM13976	blood:	n/a	n/a
19	CTCF	chr12:48919738-48919857	GM12892	blood:	n/a	n/a
20	CTCF	chr12:48919720-48919864	MCF-7	breast:	n/a	n/a
21	EBF1	chr12:48906704-48906979	GM12878	blood:	n/a	n/a
22	EP300	chr12:48906629-48907085	GM12878	blood:	n/a	n/a
23	EP300	chr12:48906634-48907090	GM12878	blood:	n/a	n/a
24	FOXA2	chr12:48913615-48913997	A549	lung:	n/a	n/a
25	FOXM1	chr12:48906471-48907144	GM12878	blood:	n/a	n/a
26	GATA3	chr12:48920990-48921683	MCF-7	breast:	n/a	chr12:48921034-48921041 chr12:48921301-48921317 chr12:48921034-48921041 chr12:48921029-48921045 chr12:48921034-48921044 chr12:48921034-48921041
27	GATA3	chr12:48921120-48921497	T-47D	breast:	n/a	chr12:48921301-48921317
28	GATA3	chr12:48921007-48921676	MCF-7	breast:	n/a	chr12:48921034-48921041 chr12:48921301-48921317 chr12:48921034-48921041 chr12:48921029-48921045 chr12:48921034-48921044 chr12:48921034-48921041
29	IKZF1	chr12:48906589-48907064	GM12878	blood:	n/a	n/a
30	MAFK	chr12:48908692-48908747	IMR90	lung:	n/a	n/a
31	MAFK	chr12:48908595-48908810	HepG2	liver:	n/a	n/a
32	MEF2A	chr12:48906680-48907062	GM12878	blood:	n/a	n/a
33	NFIC	chr12:48906450-48907227	GM12878	blood:	n/a	n/a
34	NFYA	chr12:48919337-48919537	Hela-S3	cervix:	n/a	n/a
35	NFYB	chr12:48906617-48906963	GM12878	blood:	n/a	n/a
36	NR2F2	chr12:48913555-48913986	K562	blood:	n/a	n/a
37	NR2F2	chr12:48913607-48913962	K562	blood:	n/a	n/a
38	PAX5	chr12:48914885-48915142	GM12878	blood:	n/a	n/a
39	PAX5	chr12:48914880-48915154	GM12878	blood:	n/a	n/a
40	PAX5	chr12:48914740-48915237	GM12878	blood:	n/a	n/a
41	PAX5	chr12:48914939-48915091	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:48923551-48923617	A549	lung:	n/a	n/a
43	POLR2A	chr12:48907732-48907865	ProgFib	skin:	n/a	n/a
44	POLR2A	chr12:48920100-48920126	A549	lung:	n/a	n/a
45	POLR2A	chr12:48919927-48919983	A549	lung:	n/a	n/a
46	POLR2A	chr12:48920134-48920159	A549	lung:	n/a	n/a
47	POLR2A	chr12:48917715-48917726	MCF10A-Er-Src	breast:	n/a	n/a
48	POU2F2	chr12:48906597-48907109	GM12878	blood:	n/a	n/a
49	POU2F2	chr12:48906681-48907080	GM12891	blood:	n/a	n/a
50	RELA	chr12:48906563-48907116	GM19193	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48922312-48922362	MCF10A-Er-Src	breast:	n/a
2	chr12:48921073-48921123	HRCEpiC	kidney:	n/a
3	chr12:48922312-48922362	MCF10A-Er-Src	breast:	n/a
4	chr12:48921073-48921123	HRCEpiC	kidney:	n/a
5	chr12:48914755-48914805	HepG2	liver:	n/a
6	chr12:48921073-48921123	PANC-1	pancreas:	n/a
7	chr12:48918612-48918662	AoSMC	blood vessel:	n/a
8	chr12:48921775-48921825	Hepatocyte	liver:	n/a
9	chr12:48914755-48914805	HCPEpiC	choroid plexus:	n/a
10	chr12:48921073-48921123	SK-N-SH	brain:	n/a
11	chr12:48918612-48918662	AG10803	skin:	n/a
12	chr12:48922312-48922362	T-47D	breast:	n/a
13	chr12:48921775-48921825	HMEC	breast:	n/a
14	chr12:48921775-48921825	AoSMC	blood vessel:	n/a
15	chr12:48919444-48919494	SAEC	small airway:	n/a
16	chr12:48921980-48922030	Jurkat	blood:	n/a
17	chr12:48918612-48918662	AG09309	skin:	n/a
18	chr12:48919444-48919494	SK-N-MC	brain:	n/a
19	chr12:48921980-48922030	HNPCEpiC	eye:	n/a
20	chr12:48918612-48918662	PFSK-1	brain:	n/a
21	chr12:48921775-48921825	PrEC	prostate:	n/a
22	chr12:48921073-48921123	MCF10A-Er-Src	breast:	n/a
23	chr12:48921782-48921832	Caco-2	colon:	n/a
24	chr12:48918612-48918662	MCF10A-Er-Src	breast:	n/a
25	chr12:48921073-48921123	HEK293	kidney:	embryo
26	chr12:48922050-48922100	HCPEpiC	choroid plexus:	n/a
27	chr12:48918612-48918662	HRCEpiC	kidney:	n/a
28	chr12:48922050-48922100	HAEpiC	amniotic membrane:	n/a
29	chr12:48921775-48921825	Hela-S3	cervix:	n/a
30	chr12:48921775-48921825	HCM	heart:	n/a
31	chr12:48922312-48922362	HCT-116	colon:	n/a
32	chr12:48919385-48919435	HUVEC	blood vessel:	n/a
33	chr12:48921980-48922030	GM12892	blood:	n/a
34	chr12:48919471-48919521	A549	lung:	n/a
35	chr12:48922312-48922362	NHDF-neo	bronchial:	n/a
36	chr12:48918612-48918662	PrEC	prostate:	n/a
37	chr12:48919444-48919494	HepG2	liver:	n/a
38	chr12:48922050-48922100	HEK293	kidney:	embryo
39	chr12:48914755-48914805	MCF-7	breast:	n/a
40	chr12:48921980-48922030	SK-N-SH_RA	brain:	n/a
41	chr12:48921775-48921825	AG09309	skin:	n/a
42	chr12:48921782-48921832	PrEC	prostate:	n/a
43	chr12:48921980-48922030	IMR90	lung:	fetal
44	chr12:48914755-48914805	IMR90	lung:	fetal
45	chr12:48921073-48921123	AG04449	skin:	fetal
46	chr12:48922050-48922100	Hela-S3	cervix:	n/a
47	chr12:48921782-48921832	HAEpiC	amniotic membrane:	n/a
48	chr12:48921782-48921832	HRCEpiC	kidney:	n/a
49	chr12:48919471-48919521	GM12891	blood:	n/a
50	chr12:48922050-48922100	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48917007..48919445-chr12:48952290..48954111,2	K562	blood:
2	chr12:48904094..48906808-chr12:49016863..49019582,2	MCF-7	breast:
3	chr12:48917515..48920061-chr12:49210634..49213027,2	MCF-7	breast:
4	chr12:48899375..48901667-chr12:48903999..48906182,2	K562	blood:

No data

Variant related genes	Relation type
OR8S1	TF binding region
OR8S1	CpG island
ENSG00000198678	chromatin interactions
ENSG00000197376	chromatin interactions
ENSG00000167535	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12318285	chr12:48905575-48905576	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566022075	chr12:48905603-48905604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191402147	chr12:48905710-48905711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184329596	chr12:48905739-48905740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574534208	chr12:48905762-48905763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534490409	chr12:48905807-48905808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554179268	chr12:48905808-48905809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577321593	chr12:48905824-48905825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546105426	chr12:48905839-48905840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143411611	chr12:48905840-48905841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555644933	chr12:48905866-48905867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73300718	chr12:48905868-48905869	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576028624	chr12:48905870-48905871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546964763	chr12:48905873-48905874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541945337	chr12:48905908-48905909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561741272	chr12:48905915-48905916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376663327	chr12:48905927-48905928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527718134	chr12:48905941-48905942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57444623	chr12:48905974-48905975	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560189943	chr12:48905996-48905997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2705156	chr12:48905998-48905999	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142809022	chr12:48905999-48906000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150762165	chr12:48906025-48906026	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573767833	chr12:48906051-48906052	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57022528	chr12:48906055-48906056	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375015023	chr12:48906057-48906058	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568018593	chr12:48906067-48906068	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188580528	chr12:48906095-48906096	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577811804	chr12:48906114-48906115	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60797239	chr12:48906117-48906118	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139316345	chr12:48906118-48906119	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540163002	chr12:48906121-48906122	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201430559	chr12:48906130-48906131	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556457360	chr12:48906144-48906145	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150016394	chr12:48906150-48906151	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535982041	chr12:48906166-48906167	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56674044	chr12:48906167-48906168	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555450296	chr12:48906169-48906170	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144277917	chr12:48906232-48906233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541087296	chr12:48906247-48906248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560359191	chr12:48906272-48906273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375441187	chr12:48906289-48906290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554204625	chr12:48906373-48906374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532284756	chr12:48906389-48906390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546126665	chr12:48906395-48906396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192289338	chr12:48906419-48906420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140045083	chr12:48906420-48906421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548264015	chr12:48906429-48906430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185029444	chr12:48906445-48906446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61227501	chr12:48906532-48906533	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48906000-48906600	ZNF genes & repeats	GM12878-XiMat	blood
2	chr12:48906800-48907000	Weak transcription	GM12878-XiMat	blood
3	chr12:48907200-48907600	Enhancers	GM12878-XiMat	blood
4	chr12:48912200-48912600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:48914800-48915400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:48921600-48922600	Enhancers	Placenta	Placenta
7	chr12:48922000-48922400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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