Variant report

Variant	esv2762974
Chromosome Location	chr12:38317760-38463513
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:38444870..38446396-chr2:133021688..133023192,2	K562	blood:
2	chr12:38447143..38447662-chr2:133026232..133026787,2	MCF-7	breast:
3	chr12:38444870..38446430-chr16:33959034..33960923,3	MCF-7	breast:
4	chr12:38444597..38445444-chr16:33958723..33959994,4	MCF-7	breast:
5	chr12:38444806..38446368-chr16:33959419..33960990,2	MCF-7	breast:
6	chr12:38450015..38451840-chr2:133028967..133030976,3	MCF-7	breast:
7	chr12:38444306..38445077-chr21:37485779..37486279,2	MCF-7	breast:
8	chr12:38444887..38445591-chr16:33959228..33959997,3	MCF-7	breast:
9	chr12:38444829..38445449-chr2:133022690..133023552,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE8-8	chr12:38447469-38447570	NONHSAT027671
2	lnc-ALG10B-6	chr12:38451526-38451849	NONHSAT027672
3	lnc-ALG10B-6	chr12:38449724-38450322	NONHSAT027672
4	lnc-CPNE8-8	chr12:38450354-38450755	NONHSAT027671

No data

Extended variants
information (count: 9425 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:9425 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8186775	chr12:38317760-38317761	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539247281	chr12:38317785-38317786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187339793	chr12:38317789-38317790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78900824	chr12:38317799-38317800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190182819	chr12:38317800-38317801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12307593	chr12:38317803-38317804	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs147962539	chr12:38317841-38317842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111778708	chr12:38317849-38317850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76541980	chr12:38317853-38317854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543864563	chr12:38317861-38317862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142941199	chr12:38317870-38317871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550257904	chr12:38317876-38317877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79735658	chr12:38317881-38317882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183133201	chr12:38317885-38317886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187416942	chr12:38317921-38317922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12826358	chr12:38317924-38317925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12817941	chr12:38317925-38317926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368781015	chr12:38317930-38317931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78768597	chr12:38317960-38317961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78544853	chr12:38317969-38317970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546060213	chr12:38318002-38318003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559934599	chr12:38318025-38318026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528747704	chr12:38318028-38318029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548883278	chr12:38318029-38318030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs193112722	chr12:38318075-38318076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543359516	chr12:38318076-38318077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs58178223	chr12:38318123-38318124	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569110171	chr12:38318125-38318126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551033572	chr12:38318145-38318146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570953198	chr12:38318182-38318183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367936023	chr12:38318199-38318200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185517662	chr12:38318201-38318202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539603704	chr12:38318203-38318204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561676893	chr12:38318240-38318241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546462648	chr12:38318246-38318247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566681957	chr12:38318266-38318267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535343264	chr12:38318308-38318309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151060769	chr12:38318310-38318311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575191356	chr12:38318328-38318329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187595981	chr12:38318329-38318330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs10880234	chr12:38318353-38318354	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567022937	chr12:38318397-38318398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114995379	chr12:38318398-38318399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534487099	chr12:38318406-38318407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540340733	chr12:38318412-38318413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559660039	chr12:38318426-38318427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73110367	chr12:38318427-38318428	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542116200	chr12:38318428-38318429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562357877	chr12:38318432-38318433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574075234	chr12:38318450-38318451	ZNF genes & repeats	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
Breast cancer	21509527	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38307600-38318800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:38312200-38318400	ZNF genes & repeats	Liver	Liver
3	chr12:38316800-38319600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:38321800-38322200	Active TSS	Right Atrium	heart
5	chr12:38323200-38337200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:38323600-38328000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr12:38325000-38326000	Active TSS	Fetal Heart	heart
8	chr12:38326600-38334600	ZNF genes & repeats	Liver	Liver
9	chr12:38327200-38331200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr12:38327200-38334400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr12:38328600-38329400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr12:38328800-38329000	ZNF genes & repeats	HepG2	liver
13	chr12:38329400-38330600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:38329400-38332400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr12:38331400-38333000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:38333000-38335400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr12:38336000-38336400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:38336800-38337200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr12:38336800-38337200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:38336800-38337200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr12:38336800-38337200	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr12:38336800-38337200	Active TSS	Right Atrium	heart
23	chr12:38337000-38337200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:38339600-38340200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr12:38342400-38342600	ZNF genes & repeats	HUVEC	blood vessel
26	chr12:38342400-38342800	ZNF genes & repeats	Liver	Liver
27	chr12:38342600-38343200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:38346000-38347800	ZNF genes & repeats	Liver	Liver
29	chr12:38346800-38349200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr12:38347400-38348000	ZNF genes & repeats	HUVEC	blood vessel
31	chr12:38347600-38349200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:38351800-38353000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:38352200-38353600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:38356000-38356200	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr12:38356000-38356400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:38356000-38361800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:38356000-38362200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr12:38356000-38369400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr12:38357400-38367000	ZNF genes & repeats	Liver	Liver
40	chr12:38357800-38358400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:38357800-38367600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr12:38361600-38362000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr12:38364400-38389200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:38365800-38368600	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr12:38366800-38370000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr12:38367600-38370000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr12:38367800-38368800	ZNF genes & repeats	Liver	Liver
48	chr12:38370200-38370800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr12:38370600-38373200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:38372200-38374600	ZNF genes & repeats	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links