Variant report

Variant	esv1845250
Chromosome Location	chr12:86696771-86730126
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	chr12:86723150..86725256-chr12:86785265..86787177,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT4C-1	chr12:86727843-86727905	NONHSAT029759
2	lnc-MGAT4C-1	chr12:86727843-86727905	NONHSAT029762

Extended variants
information (count: 385 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4265650	chr12:86696771-86696772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565087870	chr12:86696793-86696794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186683409	chr12:86696801-86696802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547707200	chr12:86696821-86696822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566029864	chr12:86696824-86696825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529893992	chr12:86696836-86696837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193257690	chr12:86696870-86696871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574062738	chr12:86696895-86696896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569530094	chr12:86696901-86696902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145192030	chr12:86696940-86696941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541792979	chr12:86696972-86696973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553693128	chr12:86696985-86696986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558627262	chr12:86697015-86697016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147645229	chr12:86697026-86697027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578223514	chr12:86697035-86697036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534660278	chr12:86697071-86697072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554022437	chr12:86697160-86697161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572436890	chr12:86697206-86697207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7310186	chr12:86697228-86697229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139606577	chr12:86697246-86697247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576581054	chr12:86697333-86697334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67440846	chr12:86697337-86697338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543512890	chr12:86697338-86697339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12306455	chr12:86697347-86697348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199807518	chr12:86697348-86697349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10776960	chr12:86697350-86697351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541467560	chr12:86697389-86697390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117558869	chr12:86697427-86697428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559670308	chr12:86697429-86697430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10858411	chr12:86697440-86697441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11103918	chr12:86697446-86697447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149778943	chr12:86697490-86697491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201254272	chr12:86697496-86697497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145699550	chr12:86697536-86697537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530773076	chr12:86697554-86697555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190601411	chr12:86697571-86697572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148964988	chr12:86697601-86697602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534300180	chr12:86697623-86697624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181902976	chr12:86697629-86697630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547325813	chr12:86697637-86697638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567737357	chr12:86697655-86697656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565594706	chr12:86697657-86697658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12300410	chr12:86697674-86697675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555254665	chr12:86697765-86697766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576553981	chr12:86697774-86697775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115786592	chr12:86697866-86697867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11103919	chr12:86697874-86697875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145691025	chr12:86697906-86697907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551255384	chr12:86697949-86697950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185194358	chr12:86697995-86697996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86720800-86721600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:86721600-86724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:86723800-86725400	Enhancers	Fetal Kidney	kidney
5	chr12:86723800-86726000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:86724600-86724800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr12:86724600-86725200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:86724600-86726000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:86724600-86726400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:86724800-86725200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:86724800-86725400	Enhancers	Small Intestine	intestine
12	chr12:86724800-86725600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:86724800-86725600	Enhancers	Fetal Muscle Leg	muscle
14	chr12:86724800-86725800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:86724800-86725800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:86724800-86726400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:86724800-86727600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:86725000-86725200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:86725000-86725200	Enhancers	Fetal Brain Male	brain
20	chr12:86725000-86725400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:86725000-86725400	Enhancers	Adipose Nuclei	Adipose
22	chr12:86725000-86725400	Enhancers	Brain Germinal Matrix	brain
23	chr12:86725000-86725400	Enhancers	Fetal Lung	lung
24	chr12:86725000-86725600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:86725000-86725600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:86725000-86726000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:86725000-86726000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:86725200-86726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:86725400-86725600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr12:86725400-86726800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:86725600-86726400	Active TSS	Brain Germinal Matrix	brain
32	chr12:86725600-86726800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:86725800-86726200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:86725800-86727600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:86726000-86726200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:86726000-86726400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:86726000-86726400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:86726000-86726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:86726000-86728200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:86726200-86726600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:86726200-86726600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:86726200-86727000	Active TSS	Fetal Brain Female	brain
43	chr12:86726400-86726600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:86726400-86727000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:86726400-86727000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:86726400-86727200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:86726400-86728400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:86726400-86729600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:86726600-86726800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:86726600-86727000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links