Variant report

Variant	esv3344053
Chromosome Location	chr12:104299847-104302395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:104301272-104301820	GM12878	blood:	n/a	n/a
2	ATF2	chr12:104301405-104301831	GM12878	blood:	n/a	n/a
3	BCLAF1	chr12:104301201-104301831	GM12878	blood:	n/a	n/a
4	BCLAF1	chr12:104301496-104301892	K562	blood:	n/a	n/a
5	BCLAF1	chr12:104301478-104301813	K562	blood:	n/a	n/a
6	BCLAF1	chr12:104301482-104301808	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:104301421-104301753	K562	blood:	n/a	n/a
8	CEBPB	chr12:104301369-104301788	K562	blood:	n/a	n/a
9	CEBPB	chr12:104301534-104301584	A549	lung:	n/a	n/a
10	CEBPB	chr12:104301430-104301711	IMR90	lung:	n/a	n/a
11	CREB1	chr12:104299575-104300209	GM12878	blood:	n/a	n/a
12	CREB1	chr12:104299599-104300275	GM12878	blood:	n/a	n/a
13	EGR1	chr12:104299632-104299945	GM12878	blood:	n/a	chr12:104299788-104299802
14	EGR1	chr12:104299657-104299861	GM12878	blood:	n/a	chr12:104299788-104299802
15	EP300	chr12:104301442-104301743	GM12878	blood:	n/a	n/a
16	GTF2B	chr12:104301418-104301806	K562	blood:	n/a	n/a
17	GTF2F1	chr12:104301469-104301621	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr12:104301555-104301842	K562	blood:	n/a	n/a
19	HEY1	chr12:104301486-104302173	K562	blood:	n/a	n/a
20	MAZ	chr12:104300931-104301511	IMR90	lung:	n/a	n/a
21	MTA3	chr12:104301288-104301972	GM12878	blood:	n/a	n/a
22	NFATC1	chr12:104301287-104301917	GM12878	blood:	n/a	n/a
23	NFIC	chr12:104299650-104300496	GM12878	blood:	n/a	n/a
24	NFIC	chr12:104301190-104301952	GM12878	blood:	n/a	n/a
25	PML	chr12:104301253-104302128	GM12878	blood:	n/a	n/a
26	PML	chr12:104301374-104301975	K562	blood:	n/a	n/a
27	PML	chr12:104301415-104301825	K562	blood:	n/a	n/a
28	PML	chr12:104301504-104301775	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:104301569-104301924	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:104301515-104301997	K562	blood:	n/a	n/a
31	POLR2A	chr12:104301441-104301798	K562	blood:	n/a	n/a
32	POLR2A	chr12:104301527-104301861	IMR90	lung:	n/a	n/a
33	POLR2A	chr12:104301212-104302240	GM12891	blood:	n/a	n/a
34	POLR2A	chr12:104301355-104301997	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:104301538-104301862	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:104301595-104301968	K562	blood:	n/a	n/a
37	POLR2A	chr12:104301832-104301967	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:104301353-104302080	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:104301315-104302418	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:104301568-104301770	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:104301833-104302067	K562	blood:	n/a	n/a
42	POLR2A	chr12:104301412-104302006	GM12892	blood:	n/a	n/a
43	POLR2A	chr12:104301378-104301824	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr12:104302000-104302290	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:104301580-104301829	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:104301315-104302343	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:104301137-104302264	GM12891	blood:	n/a	n/a
48	POLR2A	chr12:104301240-104302222	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:104301625-104301784	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:104302013-104302259	GM12892	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
4	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
5	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
6	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
7	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
8	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
9	chr12:104300054..104301588-chr12:104323832..104325388,2	K562	blood:
10	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
11	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:
12	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000265072	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000111727	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528032257	chr12:104299853-104299854	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs373749738	chr12:104299854-104299855	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs551667583	chr12:104299863-104299864	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs565541106	chr12:104299943-104299944	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs376503960	chr12:104299969-104299970	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs531036539	chr12:104300008-104300009	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs2583234	chr12:104300079-104300080	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10861141	chr12:104300091-104300092	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536797795	chr12:104300146-104300147	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs547066709	chr12:104300168-104300169	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs566879453	chr12:104300188-104300189	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs538998566	chr12:104300221-104300222	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs558105031	chr12:104300254-104300255	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs577895527	chr12:104300285-104300286	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs575727789	chr12:104300436-104300437	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs377344580	chr12:104300441-104300442	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs2919806	chr12:104300520-104300521	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs557160114	chr12:104300549-104300550	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs192509189	chr12:104300569-104300570	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs568330241	chr12:104300582-104300583	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs11111832	chr12:104300665-104300666	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552611971	chr12:104300666-104300667	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs572521435	chr12:104300718-104300719	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs544577993	chr12:104300757-104300758	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs564706137	chr12:104300767-104300768	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs531272937	chr12:104300768-104300769	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs377755554	chr12:104300854-104300855	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs544572009	chr12:104300860-104300861	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs368634067	chr12:104300878-104300879	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs561533549	chr12:104300886-104300887	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs199600307	chr12:104300919-104300920	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs374947013	chr12:104300928-104300929	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs183897163	chr12:104300931-104300932	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs373614157	chr12:104300943-104300944	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs200140843	chr12:104300944-104300945	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs200704456	chr12:104300971-104300972	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs139146191	chr12:104300988-104300989	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs571996589	chr12:104301000-104301001	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs73388212	chr12:104301142-104301143	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs566940330	chr12:104301164-104301165	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs532628674	chr12:104301167-104301168	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs552573960	chr12:104301203-104301204	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs569148564	chr12:104301219-104301220	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs577177031	chr12:104301251-104301252	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs537398385	chr12:104301342-104301343	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs559554554	chr12:104301363-104301364	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs567464505	chr12:104301430-104301431	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs536007569	chr12:104301434-104301435	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs552673719	chr12:104301521-104301522	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs370787403	chr12:104301538-104301539	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:104296000-104301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:104297000-104300000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:104299000-104300000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
8	chr12:104299000-104301600	Weak transcription	Thymus	Thymus
9	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:104299600-104300000	Flanking Active TSS	GM12878-XiMat	blood
11	chr12:104299600-104300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:104299600-104300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:104299600-104300600	Enhancers	HMEC	breast
14	chr12:104299600-104300800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104299600-104301400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:104299600-104301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:104299600-104302000	Enhancers	NHEK	skin
18	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:104299800-104300600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:104299800-104301600	Enhancers	Primary T cells from cord blood	blood
21	chr12:104299800-104301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
23	chr12:104300000-104300800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:104300000-104300800	Enhancers	GM12878-XiMat	blood
25	chr12:104300000-104301000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:104300200-104300400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:104300400-104300600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:104300400-104300600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:104300600-104301000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:104300600-104301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:104300600-104301400	Weak transcription	HMEC	breast
33	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:104300800-104301000	Weak transcription	GM12878-XiMat	blood
35	chr12:104300800-104301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:104300800-104301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:104301000-104301200	Enhancers	GM12878-XiMat	blood
38	chr12:104301000-104301400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:104301000-104301600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
41	chr12:104301200-104301400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:104301200-104301400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:104301200-104301400	Active TSS	GM12878-XiMat	blood
44	chr12:104301200-104301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr12:104301200-104301800	Enhancers	NHDF-Ad	bronchial
46	chr12:104301400-104301600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:104301400-104301600	Enhancers	HSMM	muscle
48	chr12:104301400-104301600	Enhancers	NH-A	brain
49	chr12:104301400-104301800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:104301400-104301800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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