Variant report

Variant	esv2625711
Chromosome Location	chr12:86652211-86654211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:86652320-86652470	AG10803	skin:	n/a	n/a
2	E2F4	chr12:86652235-86652336	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MGAT4C	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578252354	chr12:86652216-86652217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533646795	chr12:86652227-86652228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545570800	chr12:86652245-86652246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560715157	chr12:86652258-86652259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527774654	chr12:86652285-86652286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543143023	chr12:86652293-86652294	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182855763	chr12:86652299-86652300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141612124	chr12:86652353-86652354	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12315031	chr12:86652469-86652470	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549780403	chr12:86652477-86652478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571171547	chr12:86652534-86652535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534497779	chr12:86652544-86652545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532279969	chr12:86652612-86652613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553466340	chr12:86652623-86652624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73398119	chr12:86652655-86652656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578008530	chr12:86652670-86652671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535943684	chr12:86652674-86652675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554619737	chr12:86652707-86652708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569665497	chr12:86652711-86652712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537009312	chr12:86652747-86652748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1493413	chr12:86652782-86652783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185143537	chr12:86652816-86652817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578249226	chr12:86652924-86652925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189559359	chr12:86652938-86652939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554393342	chr12:86652971-86652972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572629259	chr12:86652985-86652986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542875795	chr12:86652995-86652996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11836146	chr12:86653016-86653017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557348989	chr12:86653019-86653020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183262814	chr12:86653072-86653073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531724110	chr12:86653117-86653118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142308166	chr12:86653249-86653250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117612211	chr12:86653256-86653257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532255694	chr12:86653269-86653270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61950663	chr12:86653302-86653303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34607720	chr12:86653315-86653316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116350027	chr12:86653350-86653351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1948448	chr12:86653363-86653364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540435192	chr12:86653434-86653435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187950673	chr12:86653529-86653530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144508564	chr12:86653571-86653572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372043543	chr12:86653572-86653573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375986029	chr12:86653573-86653574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148930592	chr12:86653601-86653602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537189792	chr12:86653610-86653611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559420314	chr12:86653636-86653637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374949335	chr12:86653665-86653666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372439248	chr12:86653670-86653671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377048091	chr12:86653677-86653678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77486506	chr12:86653679-86653680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86644200-86655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:86650200-86653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:86650200-86655400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:86650200-86658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:86650200-86658400	Weak transcription	Left Ventricle	heart
6	chr12:86651000-86655000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:86651400-86654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:86651400-86655000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:86651400-86658200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:86651600-86653800	Weak transcription	Fetal Heart	heart
11	chr12:86651600-86655200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:86653400-86653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:86653600-86654000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:86653800-86654800	Enhancers	Fetal Heart	heart
15	chr12:86653800-86655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:86654000-86654200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:86654000-86654200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:86654000-86655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:86654200-86654800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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