Variant report

Variant	nsv541448
Chromosome Location	chr12:31989478-32079094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:943)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32013397-32013717	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31998558-31999192	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31996390-31996733	K562	blood:	n/a	n/a
4	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
5	ATF1	chr12:31996411-31996673	K562	blood:	n/a	n/a
6	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
7	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
13	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
14	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
15	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
16	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
17	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
18	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
19	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
20	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
21	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
22	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
23	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
27	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
28	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
32	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
33	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
34	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:31998502-31998558	K562	blood:	n/a	n/a
38	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
40	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
41	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
42	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
43	CBX3	chr12:31996526-31996855	K562	blood:	n/a	n/a
44	CBX3	chr12:32075714-32076342	K562	blood:	n/a	n/a
45	CBX3	chr12:32075247-32075699	K562	blood:	n/a	n/a
46	CBX3	chr12:32003236-32003600	K562	blood:	n/a	n/a
47	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a
48	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
49	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
50	CBX3	chr12:32002133-32002441	HCT-116	colon:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
2	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
3	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
4	chr12:31881032..31882626-chr12:31999640..32002077,2	K562	blood:
5	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:
6	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
7	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
8	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
9	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:
10	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
2	lnc-H3F3C-6	chr12:32077464-32077521	NONHSAT027589
3	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580
4	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
5	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
6	lnc-H3F3C-2	chr12:32068298-32068616	NONHSAT027580
7	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
8	lnc-H3F3C-2	chr12:31996117-31997248	NONHSAT027580
9	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
10	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
11	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
12	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
13	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
14	lnc-H3F3C-6	chr12:32069002-32069098	NONHSAT027589
15	lnc-H3F3C-5	chr12:32005955-32006341	NONHSAT027581
16	lnc-H3F3C-2	chr12:31996071-31996088	NONHSAT027580
17	lnc-H3F3C-6	chr12:32068728-32068779	NONHSAT027589

No data

Variant related genes	Relation type
ENSG00000256372	TF binding region
ENSG00000244436	TF binding region
ENSG00000256465	TF binding region
ENSG00000255760	TF binding region
ENSG00000252584	TF binding region
ENSG00000256372	chromatin interactions
ENSG00000151743	chromatin interactions
ENSG00000174718	chromatin interactions

Extended variants
information (count: 3766 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3766 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534600454	chr12:31989502-31989503	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12099508	chr12:31989540-31989541	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568362237	chr12:31989545-31989546	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186827048	chr12:31989583-31989584	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375465115	chr12:31989691-31989692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557500051	chr12:31989728-31989729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141457794	chr12:31989729-31989730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540061133	chr12:31989757-31989758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368317158	chr12:31989759-31989760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111470619	chr12:31989766-31989767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563468603	chr12:31989782-31989783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530812253	chr12:31989799-31989800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191251433	chr12:31989806-31989807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372293142	chr12:31989815-31989816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574339031	chr12:31989817-31989818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542972470	chr12:31989871-31989872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563045288	chr12:31989881-31989882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532046892	chr12:31989892-31989893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77829533	chr12:31989898-31989899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371147134	chr12:31989930-31989931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111307324	chr12:31989933-31989934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111531119	chr12:31989934-31989935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551988537	chr12:31989935-31989936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113684544	chr12:31989938-31989939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398076551	chr12:31989940-31989941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71062475	chr12:31989941-31989942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76442517	chr12:31989944-31989945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111851532	chr12:31989986-31989987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150438953	chr12:31990013-31990014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540555216	chr12:31990031-31990032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77184296	chr12:31990033-31990034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548178829	chr12:31990088-31990089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372699755	chr12:31990089-31990090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568304840	chr12:31990104-31990105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537447585	chr12:31990105-31990106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550966462	chr12:31990151-31990152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570971656	chr12:31990175-31990176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554081997	chr12:31990219-31990220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539923170	chr12:31990249-31990250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185831856	chr12:31990328-31990329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376845134	chr12:31990329-31990330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144564648	chr12:31990348-31990349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560729945	chr12:31990351-31990352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536184352	chr12:31990403-31990404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555792550	chr12:31990416-31990417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575845557	chr12:31990422-31990423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543034058	chr12:31990434-31990435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28524636	chr12:31990445-31990446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576559365	chr12:31990453-31990454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545494361	chr12:31990510-31990511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31984200-31990800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
3	chr12:31986400-31990000	Enhancers	Primary B cells from cord blood	blood
4	chr12:31987800-31989600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr12:31988600-31996600	Weak transcription	Stomach Mucosa	stomach
6	chr12:31989400-31989600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:31990000-31990600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:31990600-31991200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr12:31990800-31992000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr12:31991200-31994800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:31991400-31991800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:31992000-31996200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:31994800-31995400	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr12:31995400-31996400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:31996200-31996400	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:31996200-31996600	Flanking Active TSS	K562	blood
17	chr12:31996400-31996600	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr12:31996400-31996600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:31996400-31997000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:31996400-31997000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:31996400-32004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:31996600-31996800	Enhancers	Stomach Mucosa	stomach
23	chr12:31996600-31997200	Enhancers	K562	blood
24	chr12:31996600-31998400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr12:31997000-31997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:31997000-32000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:31997600-31997800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:31997600-31997800	Enhancers	Adipose Nuclei	Adipose
29	chr12:31997800-31999600	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr12:31997800-31999800	Enhancers	HepG2	liver
31	chr12:31997800-32000800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:31998000-32000000	Enhancers	Placenta	Placenta
33	chr12:31998200-31998600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:31998400-31998600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:31998400-31998600	Enhancers	Pancreas	Pancrea
36	chr12:31998400-31998600	Active TSS	A549	lung
37	chr12:31998400-31999600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:31998400-31999800	Enhancers	K562	blood
39	chr12:31998600-31998800	Enhancers	A549	lung
40	chr12:31998600-31999400	Weak transcription	Pancreas	Pancrea
41	chr12:31998800-31999000	Flanking Active TSS	A549	lung
42	chr12:31998800-32000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:31999000-31999200	Enhancers	A549	lung
44	chr12:31999400-31999800	Enhancers	Pancreas	Pancrea
45	chr12:31999600-31999800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:31999600-32000600	Weak transcription	Primary B cells from cord blood	blood
47	chr12:31999800-32000000	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:32000000-32000400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:32000200-32001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32000600-32002400	ZNF genes & repeats	Primary B cells from cord blood	blood

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