Variant report

Variant	nsv975468
Chromosome Location	chr12:31013742-31015850
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	CCNT2	chr12:31015497-31015690	K562	blood:	n/a	n/a
2	CEBPD	chr12:31015443-31015820	K562	blood:	n/a	n/a
3	CEBPD	chr12:31015398-31015869	K562	blood:	n/a	n/a
4	CTCF	chr12:31015780-31015930	HAc	cerebellar:	n/a	n/a
5	GATA1	chr12:31015239-31015715	K562	blood:	n/a	n/a
6	GATA1	chr12:31015362-31015744	PBDE	blood:	n/a	n/a
7	GATA3	chr12:31015280-31015936	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr12:31015315-31015891	SK-N-SH	brain:	n/a	n/a
9	MAFF	chr12:31013683-31013759	K562	blood:	n/a	n/a
10	MAFK	chr12:31013666-31013772	HepG2	liver:	n/a	chr12:31013741-31013752 chr12:31013736-31013751 chr12:31013740-31013751 chr12:31013741-31013752 chr12:31013740-31013751 chr12:31013739-31013753 chr12:31013736-31013752
11	NFIC	chr12:31015251-31015893	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr12:31015326-31015865	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr12:31015372-31015803	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr12:31015351-31015844	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:31014541-31014800	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:31015486-31015786	K562	blood:	n/a	n/a
17	RCOR1	chr12:31015536-31015739	K562	blood:	n/a	n/a
18	TAL1	chr12:31015056-31015812	K562	blood:	n/a	n/a
19	TEAD4	chr12:31015435-31015786	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31013018..31014008-chr14:39572613..39573373,2	Hela-S3	cervix:
2	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:

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

Extended variants
information (count: 78 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2450098	chr12:31013841-31013842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs202037035	chr12:31013870-31013871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542004906	chr12:31013890-31013891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199845633	chr12:31013891-31013892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141368897	chr12:31013904-31013905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145144498	chr12:31013937-31013938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375705972	chr12:31013938-31013939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532384225	chr12:31013963-31013964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188003176	chr12:31013977-31013978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563293749	chr12:31014021-31014022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572077470	chr12:31014054-31014055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529899870	chr12:31014089-31014090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12366336	chr12:31014164-31014165	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12811890	chr12:31014178-31014179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12309950	chr12:31014222-31014223	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12310003	chr12:31014230-31014231	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562329218	chr12:31014246-31014247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570468570	chr12:31014247-31014248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139028063	chr12:31014259-31014260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554452182	chr12:31014281-31014282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79734108	chr12:31014296-31014297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543261328	chr12:31014297-31014298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555175624	chr12:31014326-31014327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141910758	chr12:31014356-31014357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145643930	chr12:31014367-31014368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565222582	chr12:31014384-31014385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577212878	chr12:31014405-31014406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541017758	chr12:31014415-31014416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148099082	chr12:31014447-31014448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528449914	chr12:31014461-31014462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529903263	chr12:31014506-31014507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376230119	chr12:31014547-31014548	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181943963	chr12:31014600-31014601	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369727292	chr12:31014604-31014605	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141880425	chr12:31014660-31014661	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150649946	chr12:31014669-31014670	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs256705	chr12:31014752-31014753	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs534622276	chr12:31014768-31014769	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139551470	chr12:31014794-31014795	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184518737	chr12:31014816-31014817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536977052	chr12:31014817-31014818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116026711	chr12:31014836-31014837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142815129	chr12:31014887-31014888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12317403	chr12:31014908-31014909	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559011298	chr12:31014924-31014925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577224686	chr12:31014942-31014943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541429681	chr12:31015056-31015057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559458214	chr12:31015095-31015096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574470186	chr12:31015096-31015097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113237781	chr12:31015178-31015179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31012400-31015400	Weak transcription	Fetal Heart	heart
2	chr12:31013200-31013800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:31013400-31013800	Enhancers	Osteobl	bone
4	chr12:31013600-31015000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:31015000-31016000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:31015400-31015600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:31015400-31017400	Enhancers	Fetal Heart	heart
8	chr12:31015600-31017200	Enhancers	H9 Cell Line	embryonic stem cell

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