Variant report

Variant	esv3377311
Chromosome Location	chr12:30984179-31044167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1342)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31004235-31004672	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31000205-31000403	K562	blood:	n/a	n/a
3	ATF1	chr12:31000259-31000452	K562	blood:	n/a	n/a
4	ATF1	chr12:31004151-31004724	K562	blood:	n/a	n/a
5	ATF2	chr12:31004134-31004752	GM12878	blood:	n/a	n/a
6	ATF2	chr12:31004199-31004464	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:31004105-31004862	GM12878	blood:	n/a	n/a
8	ATF3	chr12:31004501-31004709	K562	blood:	n/a	n/a
9	ATF3	chr12:30997473-30997746	GM12878	blood:	n/a	n/a
10	ATF3	chr12:30997485-30997702	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr12:31004423-31004766	GM12878	blood:	n/a	n/a
12	ATF3	chr12:31004380-31004732	K562	blood:	n/a	n/a
13	BACH1	chr12:31004188-31004310	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr12:31000166-31000449	GM12878	blood:	n/a	n/a
15	BATF	chr12:31004320-31004658	GM12878	blood:	n/a	n/a
16	BATF	chr12:31004050-31004706	GM12878	blood:	n/a	n/a
17	BATF	chr12:31011472-31011728	GM12878	blood:	n/a	n/a
18	BCL11A	chr12:31004230-31004722	GM12878	blood:	n/a	n/a
19	BCLAF1	chr12:31004100-31004539	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:31004139-31004547	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:31000346-31000462	K562	blood:	n/a	n/a
22	BHLHE40	chr12:31004107-31004756	GM12878	blood:	n/a	n/a
23	BHLHE40	chr12:31004075-31004746	K562	blood:	n/a	n/a
24	BHLHE40	chr12:31004212-31004742	HepG2	liver:	n/a	n/a
25	BHLHE40	chr12:31019398-31019413	A549	lung:	n/a	n/a
26	BHLHE40	chr12:30997578-30997668	K562	blood:	n/a	n/a
27	BHLHE40	chr12:31004408-31004754	HepG2	liver:	n/a	n/a
28	BRCA1	chr12:30997450-30997677	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr12:31004156-31004580	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr12:31000183-31000447	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr12:31000083-31000589	HCT-116	colon:	n/a	n/a
32	CBX3	chr12:31000158-31000574	K562	blood:	n/a	n/a
33	CBX3	chr12:30997373-30997929	HCT-116	colon:	n/a	n/a
34	CCNT2	chr12:31015497-31015690	K562	blood:	n/a	n/a
35	CEBPB	chr12:31034245-31034317	IMR90	lung:	n/a	chr12:31034256-31034267 chr12:31034255-31034268 chr12:31034255-31034266 chr12:31034255-31034266
36	CEBPB	chr12:31004185-31004572	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr12:31034182-31034367	HepG2	liver:	n/a	chr12:31034256-31034267 chr12:31034255-31034268 chr12:31034255-31034266 chr12:31034255-31034266
38	CEBPB	chr12:31037939-31037974	A549	lung:	n/a	n/a
39	CEBPB	chr12:30994023-30994366	HepG2	liver:	n/a	chr12:30994334-30994342 chr12:30994194-30994205
40	CEBPB	chr12:31004079-31004732	GM12878	blood:	n/a	n/a
41	CEBPB	chr12:30986260-30986521	HepG2	liver:	n/a	chr12:30986402-30986413
42	CEBPB	chr12:31034190-31034440	A549	lung:	n/a	chr12:31034256-31034267 chr12:31034255-31034268 chr12:31034255-31034266 chr12:31034255-31034266
43	CEBPB	chr12:31037794-31038094	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr12:31015443-31015820	K562	blood:	n/a	n/a
45	CEBPD	chr12:31015398-31015869	K562	blood:	n/a	n/a
46	CHD1	chr12:31004046-31004579	IMR90	lung:	n/a	n/a
47	CHD2	chr12:31004159-31004317	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr12:30997339-30997755	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr12:31004108-31004305	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr12:31004111-31004242	A549	lung:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31020422..31022802-chr12:31024174..31026917,2	MCF-7	breast:
2	chr12:30997537..30998070-chr6:16265472..16265991,2	K562	blood:
3	chr12:30999874..31000492-chr12:31398859..31399728,2	K562	blood:
4	chr12:31004147..31004726-chr12:31088536..31089374,2	MCF-7	breast:
5	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:
6	chr12:30985502..30987572-chr12:30990040..30992748,2	MCF-7	breast:
7	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
8	chr12:29669971..29670947-chr12:30997067..30997929,2	MCF-7	breast:
9	chr12:30997433..30997938-chr6:16265491..16265991,2	MCF-7	breast:
10	chr12:31007128..31008868-chr12:31015958..31017480,2	MCF-7	breast:
11	chr12:31014525..31016857-chr12:31019504..31021645,2	MCF-7	breast:
12	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
13	chr12:30985502..30987572-chr12:30990040..30992748,2	MCF-7	breast:
14	chr12:31013018..31014008-chr14:39572613..39573373,2	Hela-S3	cervix:
15	chr12:31007128..31008868-chr12:31015958..31017480,2	MCF-7	breast:
16	chr12:31008430..31010968-chr12:31012685..31015174,2	K562	blood:
17	chr12:31011986..31013519-chr14:39572376..39574186,2	MCF-7	breast:
18	chr12:31020422..31022802-chr12:31024174..31026917,2	MCF-7	breast:
19	chr12:31012992..31013500-chr14:39572706..39573244,2	MCF-7	breast:
20	chr12:31012779..31013296-chr14:39572481..39573142,2	NB4	blood:
21	chr12:30978947..30981494-chr12:30984065..30986688,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258118	TF binding region
ENSG00000100934	chromatin interactions
ENSG00000258118	chromatin interactions

Extended variants
information (count: 1880 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1880 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190399223	chr12:30984225-30984226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537487268	chr12:30984233-30984234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571656991	chr12:30984234-30984235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138962259	chr12:30984302-30984303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140679459	chr12:30984310-30984311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553957692	chr12:30984381-30984382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115952449	chr12:30984389-30984390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76272840	chr12:30984433-30984434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182545706	chr12:30984486-30984487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373703130	chr12:30984559-30984560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145863225	chr12:30984561-30984562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544026625	chr12:30984581-30984582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565289921	chr12:30984608-30984609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532847186	chr12:30984615-30984616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186862363	chr12:30984646-30984647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10771774	chr12:30984690-30984691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs67803313	chr12:30984715-30984716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547624873	chr12:30984731-30984732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370676643	chr12:30984765-30984766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529862685	chr12:30984787-30984788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138490590	chr12:30984790-30984791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs207472783	chr12:30984813-30984814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563424785	chr12:30984853-30984854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530518830	chr12:30984878-30984879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374474477	chr12:30984898-30984899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551796826	chr12:30984907-30984908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35843821	chr12:30984923-30984924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149550174	chr12:30984947-30984948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144237946	chr12:30984949-30984950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527273382	chr12:30985008-30985009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548705928	chr12:30985048-30985049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566159992	chr12:30985094-30985095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536886849	chr12:30985143-30985144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554845151	chr12:30985152-30985153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570170828	chr12:30985168-30985169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536162008	chr12:30985170-30985171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73084302	chr12:30985222-30985223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112190146	chr12:30985240-30985241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192895927	chr12:30985275-30985276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76852539	chr12:30985278-30985279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540074029	chr12:30985316-30985317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76374026	chr12:30985320-30985321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574622810	chr12:30985327-30985328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150858102	chr12:30985343-30985344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555944221	chr12:30985386-30985387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139651132	chr12:30985415-30985416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575005001	chr12:30985423-30985424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs33154	chr12:30985432-30985433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs33155	chr12:30985442-30985443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566245708	chr12:30985486-30985487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30980000-30986000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:30985800-30986200	Enhancers	HepG2	liver
3	chr12:30986000-30986400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:30986400-31006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:30988000-30988400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:30988200-30988400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr12:30989400-30990000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:30989400-30990000	Bivalent Enhancer	NHEK	skin
9	chr12:30989600-30990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:30989600-30990000	Enhancers	Esophagus	oesophagus
11	chr12:30989600-30990000	Enhancers	HMEC	breast
12	chr12:30989600-30990200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:30989600-30990600	Enhancers	Stomach Mucosa	stomach
14	chr12:30992800-30996400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:30993000-30993200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:30993200-30996400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:30993600-30994200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:30993800-30994000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:30994000-30994200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:30994000-30994400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:30994000-30994600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:30994000-30996200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:30994200-30996400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:30994400-30997000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:30994600-30996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:30996200-30997000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:30996200-30997400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:30996200-30997600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:30996400-30996600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:30996400-30997000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:30996400-30997000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:30996400-30997200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:30996400-30997400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:30996400-30997400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:30996800-30997000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:30996800-30997400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:30997000-30997200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr12:30997000-30997400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:30997000-30997400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr12:30997000-30997400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:30997000-30997600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:30997000-30997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:30997200-30997400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:30997200-30997400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr12:30997200-30997400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr12:30997200-30997400	Enhancers	Stomach Mucosa	stomach
47	chr12:30997200-30997400	Enhancers	HepG2	liver
48	chr12:30997200-30997400	Bivalent Enhancer	HUVEC	blood vessel
49	chr12:30997200-30997400	Flanking Active TSS	K562	blood
50	chr12:30997200-30997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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