Variant report

Variant	nsv470279
Chromosome Location	chr12:25384658-25399121
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
2	chr12:25383629..25385819-chr12:25387007..25389095,3	K562	blood:
3	chr12:25395817..25398136-chr12:25402041..25404103,3	MCF-7	breast:
4	chr12:25393617..25394750-chr12:25539809..25541066,3	K562	blood:
5	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:
6	chr12:25387227..25389943-chr12:25538363..25541492,5	MCF-7	breast:
7	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
8	chr12:25393614..25397250-chr12:25537759..25541230,3	K562	blood:
9	chr12:25346926..25348461-chr12:25395724..25397256,2	K562	blood:
10	chr12:25393086..25399970-chr12:25400304..25404361,8	MCF-7	breast:
11	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
12	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
13	chr12:25398070..25400681-chr12:25537482..25540046,2	MCF-7	breast:
14	chr12:25347822..25349448-chr12:25393045..25395353,2	K562	blood:
15	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:
16	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
17	chr12:25389042..25390655-chr12:25537346..25539555,2	K562	blood:
18	chr12:25393601..25395179-chr12:25539007..25540955,10	MCF-7	breast:
19	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
20	chr12:25382080..25386117-chr12:25388802..25392255,4	MCF-7	breast:
21	chr12:25390084..25392027-chr12:25396306..25398130,2	K562	blood:
22	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
23	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
24	chr12:25389042..25391439-chr12:25537346..25540580,3	K562	blood:
25	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
26	chr12:25393908..25395243-chr12:25539760..25541064,6	MCF-7	breast:
27	chr12:25397527..25400266-chr12:25538862..25540951,3	K562	blood:
28	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
29	chr12:25383629..25385819-chr12:25387007..25389095,3	K562	blood:
30	chr12:25396573..25398478-chr12:25538159..25540026,2	MCF-7	breast:
31	chr12:25393339..25393839-chr19:42788047..42788568,2	Hela-S3	cervix:
32	chr12:25392189..25396143-chr12:25537109..25540514,5	MCF-7	breast:

No data

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

Extended variants
information (count: 509 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10842513	chr12:25384658-25384659	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552535501	chr12:25384720-25384721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564348234	chr12:25384722-25384723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527372067	chr12:25384756-25384757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148925145	chr12:25384766-25384767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568379280	chr12:25384782-25384783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535903811	chr12:25384798-25384799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11047909	chr12:25384838-25384839	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547166886	chr12:25384843-25384844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569691940	chr12:25384853-25384854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537160592	chr12:25384879-25384880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56375810	chr12:25384898-25384899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61761157	chr12:25384901-25384902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577135119	chr12:25384922-25384923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61761156	chr12:25384935-25384936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534777833	chr12:25384937-25384938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187995827	chr12:25384938-25384939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143735165	chr12:25384943-25384944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11047910	chr12:25384948-25384949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111341572	chr12:25384952-25384953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61761155	chr12:25384968-25384969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575506719	chr12:25385020-25385021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145116931	chr12:25385054-25385055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368955608	chr12:25385055-25385056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564212937	chr12:25385063-25385064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528676346	chr12:25385067-25385068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537822428	chr12:25385089-25385090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202001857	chr12:25385096-25385097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141922296	chr12:25385097-25385098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138936542	chr12:25385106-25385107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554964352	chr12:25385141-25385142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562090489	chr12:25385175-25385176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374447391	chr12:25385293-25385294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570022538	chr12:25385302-25385303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531074227	chr12:25385366-25385367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191870784	chr12:25385391-25385392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4623993	chr12:25385428-25385429	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs370810258	chr12:25385439-25385440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569637431	chr12:25385470-25385471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551821343	chr12:25385475-25385476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540139971	chr12:25385504-25385505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560064423	chr12:25385512-25385513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183957429	chr12:25385561-25385562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576620488	chr12:25385600-25385601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16928546	chr12:25385636-25385637	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189076810	chr12:25385639-25385640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534845165	chr12:25385702-25385703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553197977	chr12:25385802-25385803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568301979	chr12:25385821-25385822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535748179	chr12:25385828-25385829	Weak transcription Strong transcription Enhancers	n/a	n/a	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:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr12:25349000-25386000	Weak transcription	Left Ventricle	heart
4	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
5	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:25349400-25388600	Weak transcription	NHLF	lung
7	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
10	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:25349800-25386200	Weak transcription	Hela-S3	cervix
18	chr12:25349800-25390200	Weak transcription	K562	blood
19	chr12:25350000-25402800	Weak transcription	Ovary	ovary
20	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
22	chr12:25354600-25389000	Weak transcription	HSMMtube	muscle
23	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
24	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
25	chr12:25360800-25388600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:25360800-25389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:25361000-25388000	Weak transcription	A549	lung
29	chr12:25361000-25388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:25361000-25388800	Weak transcription	Esophagus	oesophagus
31	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
34	chr12:25361200-25388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:25361200-25389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:25362000-25402400	Weak transcription	HepG2	liver
37	chr12:25363400-25388000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:25367800-25388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:25369600-25388200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:25373400-25388200	Weak transcription	GM12878-XiMat	blood
44	chr12:25374400-25391600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:25374600-25388400	Weak transcription	Thymus	Thymus
46	chr12:25374600-25388600	Weak transcription	Lung	lung
47	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
48	chr12:25375000-25388600	Weak transcription	Fetal Stomach	stomach
49	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:25376800-25388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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