Variant report

Variant	esv3354743
Chromosome Location	chr12:45210585-45214783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73277302	chr12:45210603-45210604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552169022	chr12:45210646-45210647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75137283	chr12:45210647-45210648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531203085	chr12:45210649-45210650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1376126	chr12:45210659-45210660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570826705	chr12:45210660-45210661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536850042	chr12:45210754-45210755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548771922	chr12:45210767-45210768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143882939	chr12:45210769-45210770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146435681	chr12:45210797-45210798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558975781	chr12:45210848-45210849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577216622	chr12:45210868-45210869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34812075	chr12:45210889-45210890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537805813	chr12:45210907-45210908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73279103	chr12:45210924-45210925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144573725	chr12:45210935-45210936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35349956	chr12:45210942-45210943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10736022	chr12:45210964-45210965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553581191	chr12:45210970-45210971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571896270	chr12:45211070-45211071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111840617	chr12:45211095-45211096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573906155	chr12:45211104-45211105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538233357	chr12:45211105-45211106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568674197	chr12:45211182-45211183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546120622	chr12:45211188-45211189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141306895	chr12:45211194-45211195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180886961	chr12:45211198-45211199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114273521	chr12:45211199-45211200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369387600	chr12:45211234-45211235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578246018	chr12:45211279-45211280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561784890	chr12:45211311-45211312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186564698	chr12:45211357-45211358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114974137	chr12:45211414-45211415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567109435	chr12:45211475-45211476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527876670	chr12:45211525-45211526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59173350	chr12:45211530-45211531	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542315175	chr12:45211531-45211532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140167825	chr12:45211534-45211535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538254303	chr12:45211612-45211613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556111342	chr12:45211625-45211626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561039306	chr12:45211648-45211649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568095813	chr12:45211668-45211669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531349327	chr12:45211682-45211683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535589510	chr12:45211686-45211687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7964617	chr12:45211764-45211765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545456542	chr12:45211796-45211797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7964721	chr12:45211798-45211799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145403508	chr12:45211816-45211817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191047283	chr12:45211825-45211826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558045270	chr12:45211826-45211827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45202600-45211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45204400-45210800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45207600-45212400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:45207800-45211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45207800-45212000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:45208000-45212000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45208000-45213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45208000-45215800	Enhancers	Primary T cells from cord blood	blood
10	chr12:45208400-45213200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45209000-45212600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:45209200-45212000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:45209400-45211800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:45209400-45211800	Enhancers	Fetal Brain Male	brain
15	chr12:45209800-45210800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:45209800-45211400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:45209800-45211800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:45210000-45213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:45210200-45210800	Enhancers	Brain Anterior Caudate	brain
20	chr12:45210200-45211400	Enhancers	Fetal Brain Female	brain
21	chr12:45210200-45211400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:45210200-45211800	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:45210200-45211800	Enhancers	Fetal Intestine Small	intestine
24	chr12:45210200-45212000	Enhancers	Fetal Intestine Large	intestine
25	chr12:45210400-45210800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:45210400-45211400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:45210600-45211200	Enhancers	Fetal Lung	lung
28	chr12:45210800-45211000	Enhancers	Brain Germinal Matrix	brain
29	chr12:45210800-45211200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:45210800-45211800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:45211000-45213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:45211200-45211600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:45211400-45211600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:45211400-45211600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45211400-45211800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:45211400-45211800	Enhancers	Pancreas	Pancrea
37	chr12:45211400-45212400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:45211400-45213200	Weak transcription	Fetal Brain Female	brain
39	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:45211800-45212200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:45211800-45213200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:45211800-45213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:45211800-45213400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:45211800-45224600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:45212000-45213000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:45212000-45213200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:45212000-45213400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:45212400-45213200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:45212600-45213000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:45213000-45214000	Enhancers	Primary T helper cells PMA-I stimulated	--

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