Variant report

Variant	nsv826439
Chromosome Location	chr12:75892151-75893703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:75888350..75890575-chr12:75890724..75892259,2	MCF-7	breast:
2	chr12:75890543..75892939-chr12:75893042..75895529,2	MCF-7	breast:
3	chr12:75879283..75886841-chr12:75892353..75898321,9	K562	blood:
4	chr12:75892201..75893958-chr12:75904703..75907099,2	MCF-7	breast:
5	chr12:75890543..75892939-chr12:75893042..75895529,2	MCF-7	breast:
6	chr12:75889808..75893135-chr12:75894450..75896351,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GLIPR1	hsa-miR-155-5p	chr12:75892930-75892953

Variant related genes	Relation type
ENSG00000257497	chromatin interactions
ENSG00000111615	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199791811	chr12:75892163-75892164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3830414	chr12:75892164-75892165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374905057	chr12:75892165-75892166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397695996	chr12:75892168-75892169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200420225	chr12:75892169-75892170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201490022	chr12:75892170-75892171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146930608	chr12:75892185-75892186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560180638	chr12:75892206-75892207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180943122	chr12:75892211-75892212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551192996	chr12:75892212-75892213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142335529	chr12:75892271-75892272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563640175	chr12:75892278-75892279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571109221	chr12:75892321-75892322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537394343	chr12:75892328-75892329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535512860	chr12:75892335-75892336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187128127	chr12:75892361-75892362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112759583	chr12:75892365-75892366	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148540028	chr12:75892408-75892409	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201199874	chr12:75892439-75892440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535834784	chr12:75892441-75892442	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569157020	chr12:75892443-75892444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375247979	chr12:75892459-75892460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200482879	chr12:75892462-75892463	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3736391	chr12:75892480-75892481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144968885	chr12:75892481-75892482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373895623	chr12:75892482-75892483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3736392	chr12:75892486-75892487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374132123	chr12:75892493-75892494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs199692388	chr12:75892500-75892501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201786239	chr12:75892504-75892505	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201806603	chr12:75892505-75892506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200107199	chr12:75892512-75892513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564929541	chr12:75892515-75892516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371118659	chr12:75892552-75892553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375418899	chr12:75892574-75892575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376251155	chr12:75892592-75892593	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544893044	chr12:75892619-75892620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554528562	chr12:75892624-75892625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199968151	chr12:75892632-75892633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140872473	chr12:75892646-75892647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs59314206	chr12:75892677-75892678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143283114	chr12:75892719-75892720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540265981	chr12:75892728-75892729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370333255	chr12:75892731-75892732	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200527675	chr12:75892747-75892748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34185346	chr12:75892753-75892754	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561794738	chr12:75892773-75892774	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368009301	chr12:75892796-75892797	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560094879	chr12:75892805-75892806	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532518156	chr12:75892823-75892824	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75874800-75895000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:75875800-75892400	Weak transcription	K562	blood
4	chr12:75875800-75892600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:75875800-75894400	Weak transcription	Colonic Mucosa	Colon
6	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
7	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
9	chr12:75876400-75894400	Weak transcription	Ovary	ovary
10	chr12:75876800-75895000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:75879200-75892400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:75879200-75894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:75879200-75900600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:75879800-75902000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:75880600-75903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:75881400-75892600	Weak transcription	Fetal Brain Female	brain
17	chr12:75881400-75894400	Weak transcription	Fetal Kidney	kidney
18	chr12:75882600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:75883200-75901800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:75883400-75894800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:75883400-75902600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:75883600-75901800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:75883600-75902200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:75883800-75895000	Weak transcription	Right Ventricle	heart
25	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
26	chr12:75884000-75895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:75884000-75896600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:75884000-75899400	Strong transcription	HSMM	muscle
29	chr12:75884200-75899000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:75884200-75901200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:75884200-75901200	Strong transcription	NH-A	brain
32	chr12:75884200-75902200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:75884400-75901600	Strong transcription	NHDF-Ad	bronchial
34	chr12:75884800-75899200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:75885000-75902200	Strong transcription	HUVEC	blood vessel
36	chr12:75885000-75902400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:75885400-75894800	Weak transcription	HepG2	liver
38	chr12:75886200-75903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:75886400-75893400	Strong transcription	GM12878-XiMat	blood
40	chr12:75886400-75899400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:75886600-75894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:75886600-75901400	Strong transcription	HMEC	breast
43	chr12:75886600-75903000	Strong transcription	Fetal Thymus	thymus
44	chr12:75886800-75902000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:75887000-75893400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:75887000-75899200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:75887000-75900600	Strong transcription	A549	lung
48	chr12:75887000-75902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:75887200-75901000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:75887200-75902200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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