Variant report

Variant	nsv8951
Chromosome Location	chr12:34184420-34185815
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	POLR2A	chr12:34185280-34185442	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32906662..32909285-chr12:34183695..34186206,2	K562	blood:
2	chr12:32905758..32908162-chr12:34183695..34185541,2	K562	blood:

Variant related genes	Relation type
ENSG00000264446	TF binding region
ENSG00000256538	TF binding region
ENSG00000139131	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185067128	chr12:34184490-34184491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576663051	chr12:34184540-34184541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12302890	chr12:34184679-34184680	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11053065	chr12:34184697-34184698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565454128	chr12:34184705-34184706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188266612	chr12:34184742-34184743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553380733	chr12:34184752-34184753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145568333	chr12:34184806-34184807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3050422	chr12:34184810-34184811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34600010	chr12:34184825-34184826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558390626	chr12:34184827-34184828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532641129	chr12:34184838-34184839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534318585	chr12:34184850-34184851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191429159	chr12:34184855-34184856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541698370	chr12:34184876-34184877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559803802	chr12:34184889-34184890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562494194	chr12:34184922-34184923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542703699	chr12:34184982-34184983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115006499	chr12:34184995-34184996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367704899	chr12:34185004-34185005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369109217	chr12:34185026-34185027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148866885	chr12:34185072-34185073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183994845	chr12:34185109-34185110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575183640	chr12:34185199-34185200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544055601	chr12:34185226-34185227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372908063	chr12:34185264-34185265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563961322	chr12:34185288-34185289	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11053066	chr12:34185318-34185319	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548619938	chr12:34185382-34185383	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540405668	chr12:34185427-34185428	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570100351	chr12:34185448-34185449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73090027	chr12:34185474-34185475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531007587	chr12:34185479-34185480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548740946	chr12:34185520-34185521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568827993	chr12:34185558-34185559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79405739	chr12:34185570-34185571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552070635	chr12:34185588-34185589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34090179	chr12:34185601-34185602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs66807727	chr12:34185653-34185654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112253036	chr12:34185664-34185665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs67556485	chr12:34185665-34185666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571956914	chr12:34185695-34185696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534160295	chr12:34185698-34185699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554343802	chr12:34185745-34185746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181696375	chr12:34185792-34185793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	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	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34176000-34186800	Weak transcription	Lung	lung
2	chr12:34176200-34184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:34176200-34187200	Weak transcription	Ovary	ovary
4	chr12:34176400-34186800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:34176400-34187200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:34176600-34185200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:34176600-34187200	Weak transcription	K562	blood
8	chr12:34176600-34187600	Weak transcription	Fetal Brain Male	brain
9	chr12:34176600-34190000	Weak transcription	Fetal Heart	heart
10	chr12:34177000-34184600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:34178400-34190400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:34178600-34184800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:34178600-34185000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:34178600-34185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:34178600-34187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:34178600-34187200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:34178600-34188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:34178800-34187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:34180800-34184800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:34181000-34188600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:34181800-34188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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