Variant report

Variant	esv1848303
Chromosome Location	chr12:40867011-40887238
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40868562-40868714	NONHSAT027728
2	lnc-MUC19-1	chr12:40868898-40868999	NONHSAT027728
3	lnc-MUC19-1	chr12:40869372-40869467	NONHSAT027728
4	lnc-MUC19-1	chr12:40866943-40867041	NONHSAT027728
5	lnc-MUC19-1	chr12:40872855-40879178	NONHSAT027728
6	lnc-MUC19-1	chr12:40879237-40885130	NONHSAT027728

No data

Extended variants
information (count: 1076 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573693324	chr12:40867016-40867017	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs375654361	chr12:40867033-40867034	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs188063092	chr12:40867144-40867145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143381231	chr12:40867155-40867156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532966180	chr12:40867189-40867190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12306309	chr12:40867190-40867191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192900894	chr12:40867215-40867216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556432068	chr12:40867238-40867239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183785288	chr12:40867299-40867300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2933346	chr12:40867333-40867334	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs187911300	chr12:40867352-40867353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567746160	chr12:40867376-40867377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139033134	chr12:40867387-40867388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546700754	chr12:40867456-40867457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571275788	chr12:40867490-40867491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2920814	chr12:40867499-40867500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372415738	chr12:40867514-40867515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572469779	chr12:40867609-40867610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557213538	chr12:40867676-40867677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142313749	chr12:40867690-40867691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536847164	chr12:40867699-40867700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554914545	chr12:40867724-40867725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573389628	chr12:40867728-40867729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2920813	chr12:40867737-40867738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199501221	chr12:40867786-40867787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1388782	chr12:40867824-40867825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145945695	chr12:40867837-40867838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192939749	chr12:40867851-40867852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73094611	chr12:40867862-40867863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530759597	chr12:40867904-40867905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183519031	chr12:40867942-40867943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560878466	chr12:40867944-40867945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528302539	chr12:40868014-40868015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75598342	chr12:40868065-40868066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577384309	chr12:40868087-40868088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188156062	chr12:40868113-40868114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532353723	chr12:40868115-40868116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556777450	chr12:40868136-40868137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575237531	chr12:40868177-40868178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550604187	chr12:40868206-40868207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370912151	chr12:40868260-40868261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569533433	chr12:40868287-40868288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115179850	chr12:40868309-40868310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555254735	chr12:40868320-40868321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566917837	chr12:40868339-40868340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35244077	chr12:40868450-40868451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79607258	chr12:40868459-40868460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35850095	chr12:40868529-40868530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577847405	chr12:40868562-40868563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs545018275	chr12:40868565-40868566	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40864000-40867600	Weak transcription	Fetal Heart	heart
2	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40867000-40869000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:40867200-40868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:40867200-40870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:40867400-40867600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:40867400-40867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:40867400-40868200	Enhancers	Fetal Brain Female	brain
10	chr12:40867400-40870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:40867600-40868000	Enhancers	Fetal Heart	heart
12	chr12:40867600-40869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:40867600-40870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:40867800-40868200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:40867800-40869000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:40867800-40869600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:40868000-40869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:40868000-40869000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:40868000-40869200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:40868200-40869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:40868400-40868800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:40868400-40869000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:40868400-40869200	Enhancers	NHEK	skin
24	chr12:40868400-40869600	Enhancers	HMEC	breast
25	chr12:40868400-40870400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:40868600-40869000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:40868600-40869000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:40868600-40869000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:40868600-40869400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:40869000-40870200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:40869000-40870200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:40869200-40870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:40869200-40870200	Weak transcription	NHEK	skin
34	chr12:40869400-40872800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:40869600-40872800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:40869600-40873000	Weak transcription	HMEC	breast
37	chr12:40870200-40870400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:40870200-40870600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:40870200-40870600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:40870200-40870600	Enhancers	NHEK	skin
41	chr12:40870600-40872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:40872800-40873600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr12:40872800-40873800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr12:40872800-40873800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:40873000-40873200	ZNF genes & repeats	HMEC	breast
46	chr12:40873800-40875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:40877600-40878000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr12:40877600-40878800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:40878200-40878800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links