Variant report

Variant	nsv975472
Chromosome Location	chr12:31748491-31751020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:31748751-31748787	K562	blood:	n/a	n/a
2	POLR2A	chr12:31750394-31750471	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31739424..31741927-chr12:31747863..31749994,2	K562	blood:
2	chr12:31743328..31745615-chr12:31747440..31749216,2	MCF-7	breast:
3	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
4	chr12:31745091..31747743-chr12:31750901..31752442,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DENND5B-2	chr12:31750048-31750343	NONHSAT027561
2	lnc-METTL20-7	chr12:31750885-31751290	NONHSAT027562

No data

Variant related genes	Relation type
RPL31P50	TF binding region
RNU5F-4P	TF binding region
DENND5B	TF binding region
ENSG00000170456	chromatin interactions
ENSG00000255867	chromatin interactions
ENSG00000252390	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7957026	chr12:31748491-31748492	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79924310	chr12:31748507-31748508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143568478	chr12:31748534-31748535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554366368	chr12:31748558-31748559	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148054119	chr12:31748595-31748596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112839001	chr12:31748618-31748619	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559814308	chr12:31748627-31748628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530449103	chr12:31748658-31748659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548479515	chr12:31748684-31748685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146035541	chr12:31748722-31748723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562892425	chr12:31748746-31748747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138508813	chr12:31748752-31748753	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543840622	chr12:31748758-31748759	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs79328468	chr12:31748810-31748811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141537110	chr12:31748811-31748812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531300679	chr12:31748814-31748815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146212372	chr12:31748819-31748820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112304919	chr12:31748828-31748829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549467142	chr12:31748842-31748843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571775029	chr12:31748903-31748904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35136528	chr12:31748904-31748905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567698229	chr12:31748922-31748923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560302173	chr12:31748960-31748961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139115289	chr12:31748977-31748978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549193302	chr12:31748989-31748990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569200988	chr12:31749047-31749048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111306216	chr12:31749048-31749049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144771015	chr12:31749059-31749060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11286249	chr12:31749074-31749075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148563703	chr12:31749099-31749100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12231238	chr12:31749111-31749112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141829265	chr12:31749119-31749120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377077751	chr12:31749146-31749147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188593424	chr12:31749176-31749177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181081838	chr12:31749179-31749180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568836438	chr12:31749189-31749190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6487996	chr12:31749221-31749222	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576345726	chr12:31749238-31749239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10843972	chr12:31749281-31749282	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563744508	chr12:31749298-31749299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs147746069	chr12:31749327-31749328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111427636	chr12:31749366-31749367	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111253187	chr12:31749392-31749393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71733421	chr12:31749393-31749394	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189300687	chr12:31749396-31749397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10678991	chr12:31749409-31749410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56178004	chr12:31749419-31749420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373618166	chr12:31749420-31749421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs377604423	chr12:31749421-31749422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370176496	chr12:31749422-31749423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745000-31749800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:31745200-31750200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:31745400-31750200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:31745400-31750400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:31748000-31748800	Weak transcription	Fetal Heart	heart
7	chr12:31748400-31750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:31749800-31750800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:31750200-31751600	Enhancers	Primary B cells from cord blood	blood
10	chr12:31750200-31758000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:31750400-31751000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:31750600-31751200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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