Variant report

Variant	nsv975410
Chromosome Location	chr12:31717422-31725241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31715871..31718697-chr12:31719904..31722778,2	K562	blood:
2	chr12:31476842..31478576-chr12:31720027..31722337,2	K562	blood:
3	chr12:31711892..31714332-chr12:31715777..31718020,2	K562	blood:
4	chr12:31715871..31718697-chr12:31719904..31722778,2	K562	blood:

Variant related genes	Relation type
ENSG00000177340	chromatin interactions
ENSG00000139146	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148214046	chr12:31717451-31717452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374326599	chr12:31717495-31717496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562683597	chr12:31717496-31717497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3074755	chr12:31717538-31717539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141187470	chr12:31717581-31717582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563645801	chr12:31717584-31717585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549705674	chr12:31717608-31717609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563272568	chr12:31717619-31717620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3850966	chr12:31717667-31717668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150748701	chr12:31717736-31717737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12815143	chr12:31717774-31717775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11051466	chr12:31717781-31717782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534779278	chr12:31717826-31717827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181779425	chr12:31717846-31717847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568296624	chr12:31717853-31717854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140875682	chr12:31717856-31717857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556974817	chr12:31717864-31717865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576810292	chr12:31717921-31717922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374639735	chr12:31717978-31717979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539573420	chr12:31717992-31717993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186516571	chr12:31717996-31717997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79480694	chr12:31718042-31718043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542369698	chr12:31718103-31718104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1259410	chr12:31718190-31718191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575942257	chr12:31718193-31718194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544572077	chr12:31718194-31718195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563309085	chr12:31718249-31718250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143217688	chr12:31718269-31718270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545927637	chr12:31718297-31718298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147536108	chr12:31718307-31718308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115325627	chr12:31718308-31718309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372320800	chr12:31718343-31718344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531041509	chr12:31718344-31718345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548410422	chr12:31718359-31718360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149979899	chr12:31718380-31718381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373884211	chr12:31718404-31718405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77448828	chr12:31718445-31718446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191231909	chr12:31718501-31718502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570534831	chr12:31718554-31718555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539413673	chr12:31718597-31718598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553061784	chr12:31718651-31718652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566910738	chr12:31718675-31718676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535576983	chr12:31718705-31718706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555968686	chr12:31718707-31718708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566232306	chr12:31718724-31718725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536852035	chr12:31718737-31718738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555139777	chr12:31718813-31718814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145210634	chr12:31718828-31718829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1259411	chr12:31718901-31718902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558454233	chr12:31718935-31718936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31696200-31722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31709200-31727600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31709400-31722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31710200-31723800	Weak transcription	Pancreas	Pancrea
5	chr12:31711000-31727400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:31712200-31721000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:31712200-31723600	Weak transcription	NH-A	brain
8	chr12:31713600-31720800	Weak transcription	Aorta	Aorta
9	chr12:31713800-31720200	Weak transcription	Fetal Intestine Small	intestine
10	chr12:31714000-31721400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:31714200-31726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:31714200-31728600	Weak transcription	Psoas Muscle	Psoas
13	chr12:31714400-31717600	Weak transcription	Ovary	ovary
14	chr12:31714400-31720600	Weak transcription	HepG2	liver
15	chr12:31714400-31721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:31715200-31719600	Weak transcription	A549	lung
17	chr12:31715800-31723600	Weak transcription	Fetal Brain Female	brain
18	chr12:31716200-31723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:31716200-31723600	Weak transcription	Fetal Heart	heart
20	chr12:31716400-31718200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:31716400-31721400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:31716400-31723600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:31716600-31721400	Enhancers	GM12878-XiMat	blood
24	chr12:31716600-31724000	Weak transcription	Gastric	stomach
25	chr12:31716800-31722600	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:31717400-31718200	Enhancers	Left Ventricle	heart
27	chr12:31717600-31717800	Enhancers	Ovary	ovary
28	chr12:31717800-31719800	Weak transcription	Ovary	ovary
29	chr12:31718200-31718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:31718200-31718800	Weak transcription	Left Ventricle	heart
31	chr12:31718600-31723600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:31718800-31719000	Enhancers	Left Ventricle	heart
33	chr12:31719000-31723800	Weak transcription	Left Ventricle	heart
34	chr12:31719000-31731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:31719600-31720000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:31719600-31720200	Enhancers	Brain Anterior Caudate	brain
37	chr12:31719600-31721200	Enhancers	Hela-S3	cervix
38	chr12:31719600-31722000	Enhancers	A549	lung
39	chr12:31719800-31720000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:31719800-31720000	Enhancers	Ovary	ovary
41	chr12:31720000-31720400	Weak transcription	Ovary	ovary
42	chr12:31720000-31727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:31720000-31731400	Weak transcription	Brain Germinal Matrix	brain
44	chr12:31720200-31720400	Enhancers	NHLF	lung
45	chr12:31720200-31721000	Strong transcription	Fetal Intestine Small	intestine
46	chr12:31720200-31727400	Weak transcription	Brain Anterior Caudate	brain
47	chr12:31720400-31721800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:31720400-31722600	Enhancers	Ovary	ovary
49	chr12:31720400-31723600	Weak transcription	NHLF	lung
50	chr12:31720600-31721000	Enhancers	Cortex derived primary cultured neurospheres	brain

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