Variant report

Variant	nsv826403
Chromosome Location	chr12:62130037-62190482
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	BCL11A	chr12:62170792-62171001	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr12:62148020-62148328	HepG2	liver:	n/a	chr12:62148183-62148194
3	CEBPB	chr12:62148039-62148309	IMR90	lung:	n/a	chr12:62148183-62148194
4	CEBPB	chr12:62148048-62148337	K562	blood:	n/a	chr12:62148183-62148194
5	CEBPB	chr12:62171634-62172032	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:62148100-62148300	H1-hESC	embryonic stem cell:	n/a	chr12:62148183-62148194
7	CTCF	chr12:62142270-62142357	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:62184437-62184458	GM10248	blood:	n/a	n/a
9	CTCF	chr12:62142260-62142410	HCT-116	colon:	n/a	n/a
10	CTCF	chr12:62142180-62142330	RPTEC	kidney:	n/a	n/a
11	CTCF	chr12:62184464-62184485	GM10248	blood:	n/a	n/a
12	CTCF	chr12:62142080-62142230	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr12:62142259-62142346	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:62170840-62170990	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr12:62142180-62142330	NHEK	skin:	n/a	n/a
16	CTCF	chr12:62142200-62142350	MCF-7	breast:	n/a	n/a
17	E2F4	chr12:62131084-62131255	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr12:62151641-62151863	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr12:62154756-62154872	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr12:62136064-62136091	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr12:62162794-62163020	GM12878	blood:	n/a	n/a
22	FOS	chr12:62151635-62152258	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:62144316-62144831	MCF10A-Er-Src	breast:	n/a	chr12:62144462-62144474 chr12:62144810-62144817 chr12:62144810-62144818
24	FOS	chr12:62131774-62132149	MCF10A-Er-Src	breast:	n/a	chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131958-62131970 chr12:62131960-62131968
25	FOS	chr12:62151586-62152805	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr12:62151626-62152280	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr12:62151574-62152841	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr12:62152484-62152743	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr12:62171530-62171949	MCF10A-Er-Src	breast:	n/a	chr12:62171673-62171683 chr12:62171674-62171681 chr12:62171673-62171683 chr12:62171674-62171682 chr12:62171673-62171683 chr12:62171674-62171682
30	FOS	chr12:62152474-62152740	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:62171610-62171932	MCF10A-Er-Src	breast:	n/a	chr12:62171673-62171683 chr12:62171674-62171681 chr12:62171673-62171683 chr12:62171674-62171682 chr12:62171673-62171683 chr12:62171674-62171682
32	FOS	chr12:62144336-62144807	MCF10A-Er-Src	breast:	n/a	chr12:62144462-62144474
33	FOS	chr12:62144376-62144830	MCF10A-Er-Src	breast:	n/a	chr12:62144462-62144474 chr12:62144810-62144817 chr12:62144810-62144818
34	FOS	chr12:62144324-62144810	MCF10A-Er-Src	breast:	n/a	chr12:62144462-62144474
35	FOS	chr12:62131782-62132141	MCF10A-Er-Src	breast:	n/a	chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131958-62131970 chr12:62131960-62131968
36	FOS	chr12:62131820-62132143	MCF10A-Er-Src	breast:	n/a	chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131958-62131970 chr12:62131960-62131968
37	FOS	chr12:62171517-62171809	MCF10A-Er-Src	breast:	n/a	chr12:62171673-62171683 chr12:62171674-62171681 chr12:62171673-62171683 chr12:62171674-62171682 chr12:62171673-62171683 chr12:62171674-62171682
38	FOS	chr12:62171525-62172008	MCF10A-Er-Src	breast:	n/a	chr12:62171673-62171683 chr12:62171674-62171681 chr12:62171673-62171683 chr12:62171674-62171682 chr12:62171673-62171683 chr12:62171674-62171682
39	FOS	chr12:62131811-62132143	MCF10A-Er-Src	breast:	n/a	chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131959-62131969 chr12:62131958-62131970 chr12:62131960-62131968
40	JUN	chr12:62135962-62136227	HepG2	liver:	n/a	chr12:62136063-62136076 chr12:62136064-62136073
41	JUND	chr12:62130125-62130371	HepG2	liver:	n/a	chr12:62130230-62130237 chr12:62130229-62130237 chr12:62130228-62130237 chr12:62130227-62130238 chr12:62130173-62130185 chr12:62130227-62130239 chr12:62130229-62130238
42	JUND	chr12:62153519-62153581	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUND	chr12:62135893-62136223	HepG2	liver:	n/a	chr12:62136064-62136073
44	JUND	chr12:62148117-62148225	HepG2	liver:	n/a	n/a
45	MAFF	chr12:62149548-62149560	HepG2	liver:	n/a	n/a
46	MAFK	chr12:62140325-62140525	HepG2	liver:	n/a	n/a
47	MAFK	chr12:62133864-62134016	HepG2	liver:	n/a	n/a
48	MAFK	chr12:62149513-62149630	HepG2	liver:	n/a	n/a
49	MYC	chr12:62131876-62132076	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr12:62144331-62144830	MCF10A-Er-Src	breast:	n/a	chr12:62144613-62144622

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62190203..62192695-chr12:62192926..62194632,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP15-4	chr12:62169704-62170181	NONHSAT029067

Variant related genes	Relation type
RPL21P104	TF binding region

Extended variants
information (count: 1814 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1814 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144869903	chr12:62130078-62130079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147533612	chr12:62130155-62130156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531968068	chr12:62130165-62130166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561847717	chr12:62130243-62130244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139333885	chr12:62130249-62130250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36111617	chr12:62130250-62130251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529378347	chr12:62130272-62130273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181993737	chr12:62130304-62130305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568198247	chr12:62130324-62130325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7486131	chr12:62130340-62130341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550858058	chr12:62130355-62130356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570742963	chr12:62130371-62130372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548710935	chr12:62130377-62130378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539469220	chr12:62130397-62130398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140227794	chr12:62130414-62130415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566486869	chr12:62130429-62130430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535492904	chr12:62130464-62130465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565726347	chr12:62130585-62130586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555688329	chr12:62130595-62130596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201496634	chr12:62130680-62130681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145005119	chr12:62130738-62130739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187115030	chr12:62130740-62130741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577912096	chr12:62130759-62130760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540269911	chr12:62130767-62130768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535202096	chr12:62130774-62130775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144875204	chr12:62130777-62130778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149035786	chr12:62130781-62130782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7301397	chr12:62130812-62130813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561748579	chr12:62130844-62130845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530766854	chr12:62130873-62130874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550772607	chr12:62130874-62130875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61940888	chr12:62130882-62130883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564420136	chr12:62130887-62130888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114715367	chr12:62130895-62130896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191169699	chr12:62130941-62130942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566416594	chr12:62130962-62130963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142090046	chr12:62130977-62130978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10877728	chr12:62130986-62130987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182539268	chr12:62131003-62131004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374098614	chr12:62131005-62131006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557919173	chr12:62131043-62131044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114255848	chr12:62131095-62131096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534172851	chr12:62131100-62131101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553899236	chr12:62131115-62131116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186754256	chr12:62131180-62131181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542638610	chr12:62131194-62131195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375877678	chr12:62131206-62131207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151182053	chr12:62131224-62131225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190117611	chr12:62131253-62131254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576457860	chr12:62131277-62131278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62129000-62133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62133800-62134200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62133800-62134200	Enhancers	Fetal Lung	lung
4	chr12:62134200-62135600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:62135600-62136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:62135800-62139600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:62136800-62139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:62139200-62140800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:62139600-62140400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:62140400-62147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:62140800-62142200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:62140800-62149200	Weak transcription	Ovary	ovary
13	chr12:62142200-62142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:62142600-62144400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:62143800-62146000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:62144000-62145400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:62144200-62144800	Enhancers	Adipose Nuclei	Adipose
18	chr12:62144200-62145000	Enhancers	Liver	Liver
19	chr12:62144400-62144800	Enhancers	Fetal Lung	lung
20	chr12:62144400-62146800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:62144800-62145200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:62146000-62151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:62146800-62148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:62147200-62147600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:62147600-62150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:62148400-62148800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:62148600-62148800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:62148600-62148800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:62148800-62149200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:62149200-62149400	Enhancers	Ovary	ovary
31	chr12:62149200-62149600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:62149400-62149600	Weak transcription	Ovary	ovary
33	chr12:62151000-62153400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:62151200-62152800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:62151600-62151800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:62152400-62152600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:62152600-62153200	Enhancers	Aorta	Aorta
38	chr12:62152800-62154400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:62154400-62154600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:62154400-62155000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:62155600-62156000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:62156000-62157000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:62156400-62159200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:62157200-62157400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:62157200-62157800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:62157400-62157600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:62157600-62172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:62158800-62159200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:62159000-62162200	Weak transcription	Aorta	Aorta
50	chr12:62159200-62160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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