Variant report

Variant	esv18187
Chromosome Location	chr12:31906705-31911808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31909974-31910231	HepG2	liver:	n/a	n/a
2	ATF1	chr12:31910164-31910364	K562	blood:	n/a	n/a
3	ATF3	chr12:31909916-31910330	K562	blood:	n/a	n/a
4	BATF	chr12:31911249-31911568	GM12878	blood:	n/a	chr12:31911426-31911437 chr12:31911370-31911381
5	BHLHE40	chr12:31909902-31910373	K562	blood:	n/a	n/a
6	BHLHE40	chr12:31910013-31910250	GM12878	blood:	n/a	n/a
7	CBX3	chr12:31909939-31910274	K562	blood:	n/a	n/a
8	CBX3	chr12:31911178-31911673	HCT-116	colon:	n/a	n/a
9	CCNT2	chr12:31909897-31910312	K562	blood:	n/a	n/a
10	CEBPB	chr12:31909882-31910292	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:31909759-31910308	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr12:31910003-31910337	K562	blood:	n/a	n/a
13	CEBPD	chr12:31909944-31910464	K562	blood:	n/a	n/a
14	CEBPD	chr12:31909935-31910418	K562	blood:	n/a	n/a
15	CHD1	chr12:31909867-31909939	GM12878	blood:	n/a	n/a
16	CHD1	chr12:31908725-31908765	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr12:31909894-31910240	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:31909937-31910197	GM12878	blood:	n/a	n/a
19	E2F4	chr12:31911350-31911662	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr12:31909871-31910215	GM12878	blood:	n/a	n/a
21	EP300	chr12:31909876-31910350	K562	blood:	n/a	n/a
22	EP300	chr12:31909764-31910397	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr12:31909947-31910259	Hela-S3	cervix:	n/a	n/a
24	EP300	chr12:31909938-31910378	HepG2	liver:	n/a	n/a
25	EP300	chr12:31909621-31910599	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr12:31910040-31910050	GM12878	blood:	n/a	n/a
27	FOS	chr12:31909931-31910254	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr12:31911229-31911640	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr12:31909935-31910239	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr12:31911207-31911650	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:31909932-31910232	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:31909933-31910230	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr12:31911230-31911624	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr12:31911225-31911580	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL1	chr12:31911212-31911680	HCT-116	colon:	n/a	n/a
36	FOSL1	chr12:31909908-31910202	K562	blood:	n/a	chr12:31910084-31910095
37	FOSL1	chr12:31909905-31910270	K562	blood:	n/a	chr12:31910084-31910095
38	FOSL1	chr12:31911127-31911578	HCT-116	colon:	n/a	n/a
39	FOSL2	chr12:31909785-31910354	A549	lung:	n/a	n/a
40	FOSL2	chr12:31909836-31910245	HepG2	liver:	n/a	n/a
41	FOSL2	chr12:31909854-31910220	HepG2	liver:	n/a	n/a
42	FOXM1	chr12:31909565-31910482	ECC-1	luminal epithelium:	n/a	n/a
43	GABPA	chr12:31909905-31910320	K562	blood:	n/a	n/a
44	GATA1	chr12:31909719-31910526	K562	blood:	n/a	n/a
45	GATA1	chr12:31909939-31910369	PBDE	blood:	n/a	n/a
46	GATA2	chr12:31909999-31910283	K562	blood:	n/a	n/a
47	GATA2	chr12:31909939-31910383	K562	blood:	n/a	n/a
48	GTF2F1	chr12:31909870-31910203	Hela-S3	cervix:	n/a	n/a
49	HCFC1	chr12:31910158-31910332	K562	blood:	n/a	n/a
50	HDAC2	chr12:31909885-31910390	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31906089..31908319-chr12:31910376..31912978,2	K562	blood:
2	chr12:31880356..31882113-chr12:31908651..31911633,2	K562	blood:
3	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
4	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
5	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:
6	chr12:31900170..31902250-chr12:31904037..31906770,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223722	TF binding region
ENSG00000151743	chromatin interactions
ENSG00000223722	chromatin interactions
ENSG00000256843	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs4931554	chr12:31906715-31906716	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530464231	chr12:31906789-31906790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550486262	chr12:31906790-31906791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568905855	chr12:31906792-31906793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531230306	chr12:31906864-31906865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551323372	chr12:31906874-31906875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538190538	chr12:31906901-31906902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571265519	chr12:31906909-31906910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533838255	chr12:31906950-31906951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35893209	chr12:31906961-31906962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553599323	chr12:31907002-31907003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183832590	chr12:31907042-31907043	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370577472	chr12:31907057-31907058	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150601089	chr12:31907074-31907075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536178814	chr12:31907095-31907096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556020256	chr12:31907098-31907099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576255238	chr12:31907133-31907134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188167335	chr12:31907201-31907202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114427118	chr12:31907205-31907206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368437579	chr12:31907222-31907223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572450591	chr12:31907237-31907238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79509850	chr12:31907241-31907242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561505662	chr12:31907258-31907259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78626798	chr12:31907259-31907260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4931553	chr12:31907274-31907275	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563988391	chr12:31907282-31907283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140272607	chr12:31907299-31907300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11051565	chr12:31907394-31907395	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs145246164	chr12:31907406-31907407	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374507982	chr12:31907409-31907410	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571220009	chr12:31907469-31907470	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142715618	chr12:31907474-31907475	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547077501	chr12:31907477-31907478	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567154825	chr12:31907481-31907482	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74353401	chr12:31907518-31907519	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536060934	chr12:31907524-31907525	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551781590	chr12:31907533-31907534	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555903503	chr12:31907534-31907535	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569858202	chr12:31907549-31907550	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10771867	chr12:31907578-31907579	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558727415	chr12:31907643-31907644	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572394283	chr12:31907644-31907645	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11613702	chr12:31907659-31907660	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs61932090	chr12:31907740-31907741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574952924	chr12:31907741-31907742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112407511	chr12:31907779-31907780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563859404	chr12:31907784-31907785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111771931	chr12:31907798-31907799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111230252	chr12:31907799-31907800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546469363	chr12:31907816-31907817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31902600-31908600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:31902600-31908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:31903600-31912800	Weak transcription	Gastric	stomach
6	chr12:31903800-31909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31904000-31909600	Weak transcription	HMEC	breast
8	chr12:31904200-31908400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:31904200-31909600	Weak transcription	Hela-S3	cervix
10	chr12:31904200-31909800	Weak transcription	Small Intestine	intestine
11	chr12:31904200-31909800	Weak transcription	Stomach Mucosa	stomach
12	chr12:31904600-31908400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:31904800-31909800	Weak transcription	HUVEC	blood vessel
14	chr12:31905000-31909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:31905400-31909800	Weak transcription	Placenta	Placenta
16	chr12:31905400-31912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:31905400-31912800	Weak transcription	HepG2	liver
18	chr12:31905600-31907800	Weak transcription	Spleen	Spleen
19	chr12:31905600-31908400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:31905600-31908400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:31905600-31908600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:31905600-31909600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:31905600-31909600	Weak transcription	A549	lung
24	chr12:31905600-31909800	Weak transcription	K562	blood
25	chr12:31905800-31908600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:31905800-31908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:31905800-31909800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:31905800-31909800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:31905800-31910800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:31905800-31912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:31906400-31912200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:31908000-31908200	Enhancers	Spleen	Spleen
33	chr12:31908200-31909200	Enhancers	GM12878-XiMat	blood
34	chr12:31908400-31908800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:31908400-31908800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:31908600-31908800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:31908600-31908800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:31908600-31908800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:31908600-31908800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:31908600-31908800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:31908600-31909000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:31908600-31909600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:31908600-31911000	Enhancers	Fetal Intestine Large	intestine
44	chr12:31908600-31911000	Enhancers	Fetal Intestine Small	intestine
45	chr12:31908800-31910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:31908800-31910600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:31908800-31912800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:31909200-31909600	Weak transcription	GM12878-XiMat	blood
49	chr12:31909600-31909800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:31909600-31910400	Enhancers	Rectal Mucosa Donor 29	rectum

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