Variant report

Variant	esv2762978
Chromosome Location	chr12:45042460-45051490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45035370..45037338-chr12:45042331..45044503,2	K562	blood:

Extended variants
information (count: 325 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs200067655	chr12:45042514-45042515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1167963	chr12:45042516-45042517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71459072	chr12:45042519-45042520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11182598	chr12:45042588-45042589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180715540	chr12:45042629-45042630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7302107	chr12:45042646-45042647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56057258	chr12:45042676-45042677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563769057	chr12:45042683-45042684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72078704	chr12:45042684-45042685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532788599	chr12:45042725-45042726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58199435	chr12:45042733-45042734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148550578	chr12:45042792-45042793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11182599	chr12:45042834-45042835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151111189	chr12:45042841-45042842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575248603	chr12:45042844-45042845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55996511	chr12:45042845-45042846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562457503	chr12:45042858-45042859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554359503	chr12:45042974-45042975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574319519	chr12:45042989-45042990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113794471	chr12:45042990-45042991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560988995	chr12:45043026-45043027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541618541	chr12:45043027-45043028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75625903	chr12:45043032-45043033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533635752	chr12:45043053-45043054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545079304	chr12:45043054-45043055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375674190	chr12:45043056-45043057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs978540	chr12:45043093-45043094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140142106	chr12:45043106-45043107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187643115	chr12:45043129-45043130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528297679	chr12:45043154-45043155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191955822	chr12:45043173-45043174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571222552	chr12:45043193-45043194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538879338	chr12:45043216-45043217	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145021462	chr12:45043308-45043309	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147552369	chr12:45043314-45043315	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535856123	chr12:45043348-45043349	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17651444	chr12:45043374-45043375	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572949772	chr12:45043380-45043381	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369066179	chr12:45043392-45043393	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553567122	chr12:45043462-45043463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578250275	chr12:45043480-45043481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527518582	chr12:45043484-45043485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183780927	chr12:45043504-45043505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142068095	chr12:45043505-45043506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563818203	chr12:45043545-45043546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7137523	chr12:45043557-45043558	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542634208	chr12:45043619-45043620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11836867	chr12:45043638-45043639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76186263	chr12:45043678-45043679	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552330016	chr12:45043702-45043703	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Neurodevelopmental disorder	22521361	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45035400-45043200	Weak transcription	Fetal Stomach	stomach
7	chr12:45036600-45046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45036800-45043200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:45041200-45042600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:45041800-45042600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:45041800-45043800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:45042000-45042800	Weak transcription	Fetal Brain Male	brain
13	chr12:45042000-45043400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:45042200-45042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:45042400-45043200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:45042400-45043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:45042400-45047600	Weak transcription	Fetal Brain Female	brain
18	chr12:45042400-45047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:45042400-45047800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:45042600-45043000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:45042600-45043200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:45042600-45043800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:45042800-45043600	Enhancers	Fetal Brain Male	brain
24	chr12:45043000-45043200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:45043000-45043600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:45043200-45043400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:45043200-45043600	Enhancers	Fetal Stomach	stomach
28	chr12:45043200-45043800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:45043200-45043800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:45043200-45044000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:45043400-45043800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:45043400-45044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:45043400-45047200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:45043600-45043800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:45043600-45047400	Weak transcription	Fetal Brain Male	brain
36	chr12:45043600-45047800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:45043600-45048400	Weak transcription	Fetal Stomach	stomach
38	chr12:45043800-45047800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:45043800-45048000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:45043800-45048200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:45043800-45048200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:45043800-45048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:45043800-45054000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:45044000-45044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:45044000-45047600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:45044200-45045000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:45044400-45045200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:45045000-45048400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:45045200-45047800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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