Variant report

Variant	nsv1045087
Chromosome Location	chr12:67225841-67257941
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
2	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
3	chr12:67082373..67083323-chr12:67255078..67255633,2	MCF-7	breast:
4	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
5	chr12:67110006..67111455-chr12:67254721..67255586,6	MCF-7	breast:
6	chr12:67253380..67256928-chr12:67258329..67261239,3	K562	blood:
7	chr12:67082410..67083294-chr12:67254648..67255604,5	MCF-7	breast:
8	chr12:67110471..67111538-chr12:67254403..67256131,14	MCF-7	breast:
9	chr12:67075881..67076642-chr12:67254630..67255196,2	MCF-7	breast:
10	chr12:67092019..67092945-chr12:67254522..67255578,9	MCF-7	breast:
11	chr12:67255252..67257877-chr12:67460950..67463258,3	MCF-7	breast:
12	chr12:67109764..67110463-chr12:67254735..67255402,2	MCF-7	breast:
13	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
14	chr12:67253647..67256314-chr12:67565336..67566847,2	K562	blood:
15	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 1116 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575588415	chr12:67225848-67225849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536631033	chr12:67225850-67225851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182700252	chr12:67225859-67225860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186969245	chr12:67225907-67225908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1343807	chr12:67225916-67225917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559150658	chr12:67225977-67225978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10506503	chr12:67225980-67225981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs189943805	chr12:67225988-67225989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370035930	chr12:67225999-67226000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530452760	chr12:67226045-67226046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550327126	chr12:67226046-67226047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182856385	chr12:67226092-67226093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148695089	chr12:67226129-67226130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560665272	chr12:67226143-67226144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373061329	chr12:67226189-67226190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73331107	chr12:67226260-67226261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187503865	chr12:67226284-67226285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571397777	chr12:67226294-67226295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528410773	chr12:67226299-67226300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60120273	chr12:67226300-67226301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397977747	chr12:67226308-67226309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532324452	chr12:67226321-67226322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193266174	chr12:67226342-67226343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12582121	chr12:67226362-67226363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536664134	chr12:67226379-67226380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185485761	chr12:67226430-67226431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566977001	chr12:67226442-67226443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534339441	chr12:67226443-67226444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559003054	chr12:67226450-67226451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561754427	chr12:67226562-67226563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530572134	chr12:67226617-67226618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187681302	chr12:67226621-67226622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544771485	chr12:67226652-67226653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17182343	chr12:67226733-67226734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555991889	chr12:67226792-67226793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542225905	chr12:67226798-67226799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560501138	chr12:67226872-67226873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535005889	chr12:67226911-67226912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528073238	chr12:67226942-67226943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570249617	chr12:67226980-67226981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539978361	chr12:67226997-67226998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564975576	chr12:67226998-67226999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150404835	chr12:67227003-67227004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550721070	chr12:67227013-67227014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7358791	chr12:67227014-67227015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11176441	chr12:67227056-67227057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7300505	chr12:67227089-67227090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138301137	chr12:67227132-67227133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149652120	chr12:67227157-67227158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74677808	chr12:67227207-67227208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Renal cell carcinoma	18194544	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
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67222200-67226200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr12:67224000-67227200	Enhancers	Primary T cells from cord blood	blood
3	chr12:67224400-67229600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:67224800-67226800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:67225000-67226800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:67225600-67230800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:67226600-67227400	Enhancers	Fetal Intestine Large	intestine
8	chr12:67226600-67227400	Enhancers	Fetal Intestine Small	intestine
9	chr12:67226800-67227000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:67226800-67227400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:67227200-67230400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:67229400-67231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67229400-67231600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:67230400-67230800	Enhancers	Brain Anterior Caudate	brain
15	chr12:67230400-67231400	Enhancers	Primary T cells from cord blood	blood
16	chr12:67230800-67231200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:67231000-67234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:67231400-67251200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:67231600-67232200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:67232200-67232800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:67232800-67233400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:67233400-67235200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:67234200-67235000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:67234400-67235000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:67244600-67244800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:67244600-67246200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:67244800-67245200	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:67244800-67245400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:67244800-67245600	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:67245000-67248000	Enhancers	Fetal Kidney	kidney
31	chr12:67245400-67245600	Enhancers	Fetal Lung	lung
32	chr12:67245400-67246200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:67245600-67246600	Weak transcription	Fetal Lung	lung
34	chr12:67245800-67246000	Enhancers	Fetal Brain Male	brain
35	chr12:67246000-67254400	Weak transcription	Fetal Brain Male	brain
36	chr12:67246400-67246600	Enhancers	Fetal Brain Female	brain
37	chr12:67246600-67247000	Flanking Active TSS	Fetal Brain Female	brain
38	chr12:67246600-67247400	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:67246600-67247600	Enhancers	Fetal Lung	lung
40	chr12:67249400-67250000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:67250000-67251400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:67251200-67252000	Enhancers	Primary T cells from cord blood	blood
43	chr12:67251400-67251600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:67251400-67251800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:67252000-67253400	Weak transcription	Primary T cells from cord blood	blood
46	chr12:67253400-67253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:67253400-67254600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:67253400-67254800	Enhancers	Placenta	Placenta
49	chr12:67253400-67255400	Enhancers	Primary T cells from cord blood	blood
50	chr12:67253400-67257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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