Variant report

Variant	nsv558136
Chromosome Location	chr12:31908870-31911313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
2	chr12:31906089..31908319-chr12:31910376..31912978,2	K562	blood:
3	chr12:31880356..31882113-chr12:31908651..31911633,2	K562	blood:
4	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:
5	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:

Variant related genes	Relation type
ENSG00000223722	chromatin interactions
ENSG00000151743	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7970737	chr12:31908870-31908871	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185701172	chr12:31908903-31908904	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574079985	chr12:31908917-31908918	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190015064	chr12:31908946-31908947	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563419008	chr12:31908948-31908949	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146285136	chr12:31909006-31909007	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12371629	chr12:31909032-31909033	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545981460	chr12:31909070-31909071	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559583340	chr12:31909114-31909115	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367764327	chr12:31909192-31909193	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182247216	chr12:31909235-31909236	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138032666	chr12:31909242-31909243	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530954121	chr12:31909295-31909296	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562733087	chr12:31909340-31909341	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570936239	chr12:31909341-31909342	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539504944	chr12:31909351-31909352	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553580522	chr12:31909376-31909377	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200753183	chr12:31909451-31909452	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199896475	chr12:31909452-31909453	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78285231	chr12:31909463-31909464	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs398019100	chr12:31909465-31909466	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566716610	chr12:31909483-31909484	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535781049	chr12:31909545-31909546	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149516894	chr12:31909570-31909571	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187995258	chr12:31909591-31909592	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193273241	chr12:31909611-31909612	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75149291	chr12:31909635-31909636	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576917044	chr12:31909670-31909671	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531687984	chr12:31909711-31909712	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545569738	chr12:31909793-31909794	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10743766	chr12:31909908-31909909	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7139107	chr12:31910009-31910010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542015569	chr12:31910040-31910041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368659713	chr12:31910060-31910061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561976228	chr12:31910087-31910088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371885241	chr12:31910102-31910103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550168670	chr12:31910113-31910114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34618102	chr12:31910134-31910135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530673487	chr12:31910159-31910160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77095149	chr12:31910194-31910195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183691191	chr12:31910323-31910324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35778139	chr12:31910329-31910330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs398019101	chr12:31910333-31910334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533511465	chr12:31910389-31910390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188686282	chr12:31910394-31910395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566753967	chr12:31910396-31910397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535674794	chr12:31910402-31910403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549132219	chr12:31910460-31910461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192808905	chr12:31910467-31910468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184151282	chr12:31910473-31910474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:31903600-31912800	Weak transcription	Gastric	stomach
4	chr12:31903800-31909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:31904000-31909600	Weak transcription	HMEC	breast
6	chr12:31904200-31909600	Weak transcription	Hela-S3	cervix
7	chr12:31904200-31909800	Weak transcription	Small Intestine	intestine
8	chr12:31904200-31909800	Weak transcription	Stomach Mucosa	stomach
9	chr12:31904800-31909800	Weak transcription	HUVEC	blood vessel
10	chr12:31905000-31909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:31905400-31909800	Weak transcription	Placenta	Placenta
12	chr12:31905400-31912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:31905400-31912800	Weak transcription	HepG2	liver
14	chr12:31905600-31909600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:31905600-31909600	Weak transcription	A549	lung
16	chr12:31905600-31909800	Weak transcription	K562	blood
17	chr12:31905800-31909800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:31905800-31909800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:31905800-31910800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:31905800-31912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:31906400-31912200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:31908200-31909200	Enhancers	GM12878-XiMat	blood
23	chr12:31908600-31909000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:31908600-31909600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:31908600-31911000	Enhancers	Fetal Intestine Large	intestine
26	chr12:31908600-31911000	Enhancers	Fetal Intestine Small	intestine
27	chr12:31908800-31910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:31908800-31910600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:31908800-31912800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:31909200-31909600	Weak transcription	GM12878-XiMat	blood
31	chr12:31909600-31909800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr12:31909600-31910400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:31909600-31910400	Enhancers	A549	lung
34	chr12:31909600-31910400	Enhancers	GM12878-XiMat	blood
35	chr12:31909600-31910400	Enhancers	HMEC	breast
36	chr12:31909600-31911000	Enhancers	Hela-S3	cervix
37	chr12:31909800-31910000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:31909800-31910000	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:31909800-31910000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr12:31909800-31910000	Enhancers	Small Intestine	intestine
41	chr12:31909800-31910200	Enhancers	HUVEC	blood vessel
42	chr12:31909800-31910200	Enhancers	K562	blood
43	chr12:31909800-31910400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:31909800-31910400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:31909800-31910400	Enhancers	NHEK	skin
46	chr12:31909800-31910600	Enhancers	Placenta	Placenta
47	chr12:31909800-31910600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:31909800-31910800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:31909800-31910800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:31909800-31913400	Enhancers	Stomach Mucosa	stomach

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