Variant report

Variant	nsv522233
Chromosome Location	chr12:25392282-25397282
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:25393614..25397250-chr12:25537759..25541230,3	K562	blood:
2	chr12:25393617..25394750-chr12:25539809..25541066,3	K562	blood:
3	chr12:25393339..25393839-chr19:42788047..42788568,2	Hela-S3	cervix:
4	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
5	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
6	chr12:25347822..25349448-chr12:25393045..25395353,2	K562	blood:
7	chr12:25393601..25395179-chr12:25539007..25540955,10	MCF-7	breast:
8	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
9	chr12:25393908..25395243-chr12:25539760..25541064,6	MCF-7	breast:
10	chr12:25393086..25399970-chr12:25400304..25404361,8	MCF-7	breast:
11	chr12:25346926..25348461-chr12:25395724..25397256,2	K562	blood:
12	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
13	chr12:25392189..25396143-chr12:25537109..25540514,5	MCF-7	breast:
14	chr12:25395817..25398136-chr12:25402041..25404103,3	MCF-7	breast:
15	chr12:25396573..25398478-chr12:25538159..25540026,2	MCF-7	breast:
16	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
17	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
18	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205707	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000133703	chromatin interactions
ENSG00000118307	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10842514	chr12:25392282-25392283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11047915	chr12:25392293-25392294	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193291267	chr12:25392349-25392350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565673098	chr12:25392376-25392377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555294671	chr12:25392383-25392384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529630116	chr12:25392405-25392406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554857900	chr12:25392408-25392409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548300204	chr12:25392424-25392425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10505980	chr12:25392443-25392444	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs553956854	chr12:25392445-25392446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537288677	chr12:25392456-25392457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61761094	chr12:25392494-25392495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188388763	chr12:25392555-25392556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534919668	chr12:25392556-25392557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577457485	chr12:25392574-25392575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552962037	chr12:25392580-25392581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574794321	chr12:25392652-25392653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541844677	chr12:25392659-25392660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180755760	chr12:25392667-25392668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59092193	chr12:25392670-25392671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546029063	chr12:25392698-25392699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184231429	chr12:25392715-25392716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12423011	chr12:25392769-25392770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188515367	chr12:25392842-25392843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373921792	chr12:25392844-25392845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181732455	chr12:25392862-25392863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61761093	chr12:25392988-25392989	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61761092	chr12:25393011-25393012	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187161141	chr12:25393021-25393022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61761091	chr12:25393079-25393080	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs61761090	chr12:25393080-25393081	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191545388	chr12:25393165-25393166	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556496431	chr12:25393210-25393211	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11047916	chr12:25393292-25393293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568244973	chr12:25393315-25393316	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs561310361	chr12:25393317-25393318	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs549522544	chr12:25393357-25393358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs61761089	chr12:25393370-25393371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148694429	chr12:25393373-25393374	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs61761088	chr12:25393389-25393390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs539549777	chr12:25393405-25393406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs386761281	chr12:25393421-25393422	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs61761086	chr12:25393422-25393423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540448024	chr12:25393455-25393456	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs182532084	chr12:25393486-25393487	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs142205177	chr12:25393509-25393510	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs59597743	chr12:25393510-25393511	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs563274548	chr12:25393517-25393518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs10842515	chr12:25393523-25393524	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs552315238	chr12:25393528-25393529	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Endometrial cancer	19261849	CNVD
Gastric adenocarcinoma	22014070	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
3	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
4	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
7	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:25350000-25402800	Weak transcription	Ovary	ovary
14	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
16	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
17	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
18	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
22	chr12:25362000-25402400	Weak transcription	HepG2	liver
23	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
27	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:25377800-25402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:25377800-25402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:25378800-25401800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:25380400-25402200	Weak transcription	Fetal Lung	lung
32	chr12:25380600-25393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:25381000-25395400	Weak transcription	HUVEC	blood vessel
34	chr12:25381200-25402400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:25382000-25402600	Weak transcription	Colonic Mucosa	Colon
36	chr12:25383000-25399000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:25384200-25392800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:25385200-25393600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:25385200-25402600	Weak transcription	Aorta	Aorta
40	chr12:25385400-25395400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:25386200-25392600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:25386200-25402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:25386400-25393400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:25386400-25402800	Weak transcription	Gastric	stomach
45	chr12:25386600-25393800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:25386600-25402600	Weak transcription	Fetal Kidney	kidney
47	chr12:25386800-25402600	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:25387000-25396800	Weak transcription	Hela-S3	cervix
49	chr12:25387600-25394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:25387800-25392400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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