Variant report

Variant	nsv1045252
Chromosome Location	chr12:30583170-30621743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:30610643-30610992	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:30610510-30611017	K562	blood:	n/a	n/a
3	ARID3A	chr12:30590316-30590317	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:30590673-30590940	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:30603569-30604106	K562	blood:	n/a	n/a
6	ATF1	chr12:30610626-30610862	K562	blood:	n/a	n/a
7	ATF1	chr12:30603751-30604058	K562	blood:	n/a	n/a
8	ATF3	chr12:30610527-30610879	K562	blood:	n/a	n/a
9	BHLHE40	chr12:30603732-30604120	K562	blood:	n/a	n/a
10	CBX3	chr12:30610474-30611013	HCT-116	colon:	n/a	n/a
11	CCNT2	chr12:30603407-30604027	K562	blood:	n/a	n/a
12	CEBPB	chr12:30585073-30585153	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:30590637-30591005	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:30603933-30604174	K562	blood:	n/a	chr12:30604105-30604116
15	CEBPB	chr12:30610857-30611152	IMR90	lung:	n/a	chr12:30611021-30611032
16	CEBPB	chr12:30603961-30604255	HepG2	liver:	n/a	chr12:30604105-30604116
17	CEBPB	chr12:30600990-30601270	Hela-S3	cervix:	n/a	chr12:30601098-30601109 chr12:30601130-30601141
18	CEBPB	chr12:30610566-30611106	Hela-S3	cervix:	n/a	chr12:30611021-30611032
19	CEBPB	chr12:30600954-30601319	K562	blood:	n/a	chr12:30601098-30601109 chr12:30601130-30601141
20	CEBPB	chr12:30600975-30601308	A549	lung:	n/a	chr12:30601098-30601109 chr12:30601130-30601141
21	CEBPB	chr12:30603830-30604199	K562	blood:	n/a	chr12:30604105-30604116
22	CEBPB	chr12:30600954-30601327	HepG2	liver:	n/a	chr12:30601098-30601109 chr12:30601130-30601141
23	CEBPB	chr12:30590623-30590904	HepG2	liver:	n/a	n/a
24	CEBPB	chr12:30610850-30611163	HepG2	liver:	n/a	chr12:30611021-30611032
25	CEBPB	chr12:30590798-30590863	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr12:30603918-30604266	Hela-S3	cervix:	n/a	chr12:30604105-30604116
27	CEBPB	chr12:30603904-30604298	K562	blood:	n/a	chr12:30604105-30604116
28	CEBPB	chr12:30600963-30601324	IMR90	lung:	n/a	chr12:30601098-30601109 chr12:30601130-30601141
29	CEBPB	chr12:30590691-30590906	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:30610869-30611135	A549	lung:	n/a	chr12:30611021-30611032
31	CEBPB	chr12:30590642-30591030	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:30610735-30611110	K562	blood:	n/a	chr12:30611021-30611032
33	CEBPD	chr12:30603795-30604232	K562	blood:	n/a	n/a
34	CTCF	chr12:30610720-30610870	NHDF-neo	bronchial:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
35	CTCF	chr12:30610740-30610890	AG10803	skin:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
36	CTCF	chr12:30610720-30610870	NHEK	skin:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
37	CTCF	chr12:30610580-30611041	MCF-7	breast:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
38	CTCF	chr12:30594590-30594686	A549	lung:	n/a	n/a
39	CTCF	chr12:30600120-30600270	GM12871	blood:	n/a	n/a
40	CTCF	chr12:30610740-30610890	HepG2	liver:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
41	CTCF	chr12:30593860-30594010	HA-sp	spinal cord:	n/a	chr12:30593939-30593948
42	CTCF	chr12:30593980-30594130	A549	lung:	n/a	n/a
43	CTCF	chr12:30594100-30594250	AG09319	gingival:	n/a	n/a
44	CTCF	chr12:30593840-30593990	SAEC	small airway:	n/a	chr12:30593939-30593948
45	CTCF	chr12:30610682-30610933	H1-hESC	embryonic stem cell:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
46	CTCF	chr12:30593860-30594010	BJ	skin:	n/a	chr12:30593939-30593948
47	CTCF	chr12:30610720-30610870	Hela-S3	cervix:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
48	CTCF	chr12:30610760-30610910	HEK293	kidney:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
49	CTCF	chr12:30610770-30610876	MCF-7	breast:	n/a	chr12:30610806-30610827 chr12:30610812-30610828 chr12:30610811-30610829
50	CTCF	chr12:30610823-30610827	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:30591384-30591434	CMK	blood:	n/a
2	chr12:30591384-30591434	HEEpiC	esophagus:	n/a
3	chr12:30591384-30591434	NHBE	bronchial:	n/a
4	chr12:30591384-30591434	ovcar-3	ovarian:	n/a
5	chr12:30591384-30591434	GM12892	blood:	n/a
6	chr12:30591384-30591434	NHDF-neo	bronchial:	n/a
7	chr12:30591384-30591434	Hela-S3	cervix:	n/a
8	chr12:30591384-30591434	U87	brain:	n/a
9	chr12:30591384-30591434	PANC-1	pancreas:	n/a
10	chr12:30591384-30591434	T-47D	breast:	n/a
11	chr12:30591384-30591434	SK-N-MC	brain:	n/a
12	chr12:30591384-30591434	HCM	heart:	n/a
13	chr12:30591384-30591434	HIPEpiC	eye:	n/a
14	chr12:30591384-30591434	SAEC	small airway:	n/a
15	chr12:30591384-30591434	A549	lung:	n/a
16	chr12:30591384-30591434	HNPCEpiC	eye:	n/a
17	chr12:30591384-30591434	HMEC	breast:	n/a
18	chr12:30591384-30591434	GM12878	blood:	n/a
19	chr12:30591384-30591434	AG04449	skin:	fetal
20	chr12:30591384-30591434	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:30591384-30591434	PFSK-1	brain:	n/a
22	chr12:30591384-30591434	PrEC	prostate:	n/a
23	chr12:30591384-30591434	HCT-116	colon:	n/a
24	chr12:30591384-30591434	Hepatocyte	liver:	n/a
25	chr12:30591384-30591434	HAEpiC	amniotic membrane:	n/a
26	chr12:30591384-30591434	NT2-D1	testis:	n/a
27	chr12:30591384-30591434	NB4	blood:	n/a
28	chr12:30591384-30591434	BE2_C	brain:	n/a
29	chr12:30591384-30591434	GM19239	blood:	n/a
30	chr12:30591384-30591434	ProgFib	skin:	n/a
31	chr12:30591384-30591434	HRPEpiC	eye:	n/a
32	chr12:30591384-30591434	IMR90	lung:	fetal
33	chr12:30591384-30591434	HRE	kidney:	n/a
34	chr12:30591384-30591434	HepG2	liver:	n/a
35	chr12:30591384-30591434	RPTEC	kidney:	n/a
36	chr12:30591384-30591434	SKMC	muscle:	n/a
37	chr12:30591384-30591434	MCF-7	breast:	n/a
38	chr12:30591384-30591434	ECC-1	luminal epithelium:	n/a
39	chr12:30591384-30591434	AG10803	skin:	n/a
40	chr12:30591384-30591434	GM12891	blood:	n/a
41	chr12:30591384-30591434	SK-N-SH_RA	brain:	n/a
42	chr12:30591384-30591434	AoSMC	blood vessel:	n/a
43	chr12:30591384-30591434	HCF	heart:	n/a
44	chr12:30591384-30591434	AG09309	skin:	n/a
45	chr12:30591384-30591434	H1-hESC	embryonic stem cell:	embryo
46	chr12:30591384-30591434	NH-A	brain:	n/a
47	chr12:30591384-30591434	K562	blood:	n/a
48	chr12:30591384-30591434	GM06990	blood:	n/a
49	chr12:30591384-30591434	MCF10A-Er-Src	breast:	n/a
50	chr12:30591384-30591434	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:30594497..30597214-chr12:30599271..30601913,3	K562	blood:
2	chr12:30600424..30602317-chr12:30605382..30607677,2	MCF-7	breast:
3	chr12:30589442..30591891-chr12:30596596..30598208,2	K562	blood:
4	chr12:30600424..30602317-chr12:30605382..30607677,2	MCF-7	breast:
5	chr12:30594497..30597214-chr12:30599271..30601913,3	K562	blood:
6	chr12:30603545..30605417-chr12:30948228..30949913,2	K562	blood:
7	chr12:30589442..30591891-chr12:30596596..30598208,2	K562	blood:
8	chr12:30608258..30610479-chr12:30611137..30614676,3	MCF-7	breast:
9	chr12:30608258..30610479-chr12:30611137..30614676,3	MCF-7	breast:
10	chr12:29705381..29705928-chr12:30610654..30611317,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IPO8-2	chr12:30619400-30619509	NONHSAT027511
2	lnc-TSPAN11-11	chr12:30607852-30608017	NONHSAT027510

Variant related genes	Relation type
ENSG00000258202	TF binding region
ENSG00000258202	CpG island
ENSG00000235884	chromatin interactions

Extended variants
information (count: 950 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111853760	chr12:30583180-30583181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74727679	chr12:30583190-30583191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547865419	chr12:30583200-30583201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182389082	chr12:30583209-30583210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575485682	chr12:30583225-30583226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145593202	chr12:30583240-30583241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558031614	chr12:30583269-30583270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186662075	chr12:30583289-30583290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191462317	chr12:30583331-30583332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9943785	chr12:30583350-30583351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559214752	chr12:30583361-30583362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142366441	chr12:30583387-30583388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558824215	chr12:30583388-30583389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367789142	chr12:30589426-30589427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371882115	chr12:30589451-30589452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144097987	chr12:30589485-30589486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539881864	chr12:30589511-30589512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187890324	chr12:30589544-30589545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146499451	chr12:30589560-30589561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4931334	chr12:30589569-30589570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563548249	chr12:30589575-30589576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540139739	chr12:30589578-30589579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149108714	chr12:30589585-30589586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4931335	chr12:30589649-30589650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10843752	chr12:30589655-30589656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550392948	chr12:30589709-30589710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562420250	chr12:30589710-30589711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568339259	chr12:30589712-30589713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535396611	chr12:30589755-30589756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151137311	chr12:30589758-30589759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75574654	chr12:30589777-30589778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184483530	chr12:30589782-30589783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73277121	chr12:30589800-30589801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140113318	chr12:30589826-30589827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11050904	chr12:30589833-30589834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116529013	chr12:30589849-30589850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116121698	chr12:30589887-30589888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200479312	chr12:30589917-30589918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146947985	chr12:30589923-30589924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563511008	chr12:30589961-30589962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10771717	chr12:30589998-30589999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138017051	chr12:30590006-30590007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564229624	chr12:30590021-30590022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528623686	chr12:30590028-30590029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116970115	chr12:30590044-30590045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10771718	chr12:30590066-30590067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188797486	chr12:30590107-30590108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143576027	chr12:30590139-30590140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192596626	chr12:30590142-30590143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114508772	chr12:30590143-30590144	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
microdeletion syndrome	16199537	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30583000-30583400	Enhancers	Liver	Liver
2	chr12:30589400-30591600	Enhancers	HepG2	liver
3	chr12:30589800-30595000	Enhancers	Fetal Stomach	stomach
4	chr12:30590000-30590800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:30590000-30591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30590000-30592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:30590000-30592600	Enhancers	Fetal Lung	lung
8	chr12:30590000-30593000	Enhancers	Liver	Liver
9	chr12:30590200-30590800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:30590200-30590800	Enhancers	NHDF-Ad	bronchial
11	chr12:30590200-30591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:30590400-30590600	Enhancers	Lung	lung
13	chr12:30590400-30590800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:30590400-30590800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:30590400-30590800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:30590400-30590800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:30590400-30590800	Enhancers	Pancreas	Pancrea
18	chr12:30590400-30590800	Enhancers	Right Atrium	heart
19	chr12:30590400-30591000	Enhancers	Fetal Kidney	kidney
20	chr12:30590400-30591400	Enhancers	Adipose Nuclei	Adipose
21	chr12:30590400-30592600	Enhancers	Stomach Mucosa	stomach
22	chr12:30590400-30593000	Enhancers	Fetal Brain Male	brain
23	chr12:30590400-30593000	Enhancers	Fetal Brain Female	brain
24	chr12:30590800-30592400	Weak transcription	Pancreas	Pancrea
25	chr12:30590800-30596400	Weak transcription	Right Atrium	heart
26	chr12:30591000-30591400	Weak transcription	Fetal Kidney	kidney
27	chr12:30591200-30594000	Enhancers	Fetal Heart	heart
28	chr12:30591400-30591800	Enhancers	Fetal Kidney	kidney
29	chr12:30591600-30594000	Weak transcription	HepG2	liver
30	chr12:30592400-30592600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:30592400-30592800	Enhancers	Left Ventricle	heart
32	chr12:30592400-30592800	Enhancers	Lung	lung
33	chr12:30592400-30592800	Enhancers	Pancreas	Pancrea
34	chr12:30592400-30593000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:30592400-30593600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:30592600-30594600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:30592600-30600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:30592800-30594600	Weak transcription	Pancreas	Pancrea
39	chr12:30593000-30594200	Weak transcription	Fetal Brain Male	brain
40	chr12:30593000-30602400	Weak transcription	Liver	Liver
41	chr12:30594000-30594400	Enhancers	HepG2	liver
42	chr12:30594000-30596200	Weak transcription	Fetal Heart	heart
43	chr12:30594200-30595000	Enhancers	Fetal Brain Male	brain
44	chr12:30594600-30594800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:30594600-30594800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:30594600-30594800	Flanking Active TSS	Lung	lung
47	chr12:30594600-30594800	Enhancers	Pancreas	Pancrea
48	chr12:30594600-30594800	Enhancers	Spleen	Spleen
49	chr12:30594800-30596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:30594800-30600200	Weak transcription	Spleen	Spleen

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