Variant report

Variant	esv20428
Chromosome Location	chr12:40867874-40884927
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:5)
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:5 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1039 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530759597	chr12:40867904-40867905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183519031	chr12:40867942-40867943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560878466	chr12:40867944-40867945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528302539	chr12:40868014-40868015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75598342	chr12:40868065-40868066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577384309	chr12:40868087-40868088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188156062	chr12:40868113-40868114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532353723	chr12:40868115-40868116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556777450	chr12:40868136-40868137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575237531	chr12:40868177-40868178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550604187	chr12:40868206-40868207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370912151	chr12:40868260-40868261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569533433	chr12:40868287-40868288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115179850	chr12:40868309-40868310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555254735	chr12:40868320-40868321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566917837	chr12:40868339-40868340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35244077	chr12:40868450-40868451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79607258	chr12:40868459-40868460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35850095	chr12:40868529-40868530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577847405	chr12:40868562-40868563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545018275	chr12:40868565-40868566	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs556636812	chr12:40868619-40868620	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs575203865	chr12:40868704-40868705	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs1444222	chr12:40868767-40868768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150756683	chr12:40868773-40868774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200114603	chr12:40868879-40868880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397941993	chr12:40868880-40868881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145821850	chr12:40868928-40868929	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528250091	chr12:40868953-40868954	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs540068668	chr12:40869023-40869024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565026446	chr12:40869027-40869028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541311436	chr12:40869047-40869048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550667111	chr12:40869051-40869052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569118272	chr12:40869093-40869094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1867434	chr12:40869105-40869106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114676893	chr12:40869250-40869251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34070835	chr12:40869284-40869285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76087923	chr12:40869343-40869344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534375808	chr12:40869344-40869345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192337247	chr12:40869398-40869399	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs571058890	chr12:40869428-40869429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs184668879	chr12:40869441-40869442	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs1492333	chr12:40869452-40869453	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149938561	chr12:40869487-40869488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375834435	chr12:40869533-40869534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145076256	chr12:40869547-40869548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533835921	chr12:40869549-40869550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548713851	chr12:40869592-40869593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531271998	chr12:40869593-40869594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554549441	chr12:40869629-40869630	Weak transcription Enhancers	n/a	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:46 , 50 per page) page: 1

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