Variant report

Variant	nsv1047239
Chromosome Location	chr12:83362299-83444855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:552)
CpG islands
(count:61)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:83413340-83413383	K562	blood:	n/a	n/a
2	ARID3A	chr12:83398443-83398586	K562	blood:	n/a	n/a
3	ARID3A	chr12:83409707-83410354	K562	blood:	n/a	n/a
4	ATF1	chr12:83409890-83410267	K562	blood:	n/a	n/a
5	ATF3	chr12:83410012-83410345	K562	blood:	n/a	n/a
6	BACH1	chr12:83409673-83410314	K562	blood:	n/a	n/a
7	BATF	chr12:83390166-83390478	GM12878	blood:	n/a	n/a
8	BATF	chr12:83390229-83390442	GM12878	blood:	n/a	n/a
9	BCL11A	chr12:83390132-83390497	GM12878	blood:	n/a	chr12:83390379-83390388 chr12:83390380-83390389
10	BCL3	chr12:83390244-83390523	GM12878	blood:	n/a	chr12:83390379-83390388 chr12:83390380-83390389
11	BHLHE40	chr12:83409167-83410333	K562	blood:	n/a	n/a
12	CBX3	chr12:83404126-83404531	HCT-116	colon:	n/a	n/a
13	CBX3	chr12:83409364-83410378	K562	blood:	n/a	chr12:83409365-83409376
14	CBX3	chr12:83404224-83404502	K562	blood:	n/a	n/a
15	CBX3	chr12:83398517-83398829	K562	blood:	n/a	n/a
16	CBX3	chr12:83404125-83404631	HCT-116	colon:	n/a	n/a
17	CBX3	chr12:83404132-83404575	K562	blood:	n/a	n/a
18	CEBPB	chr12:83374950-83375260	HepG2	liver:	n/a	chr12:83375100-83375111 chr12:83374988-83375001
19	CEBPB	chr12:83421175-83421409	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:83362563-83362638	A549	lung:	n/a	chr12:83362592-83362603
21	CEBPB	chr12:83362448-83362714	K562	blood:	n/a	chr12:83362592-83362603
22	CEBPB	chr12:83409529-83410360	K562	blood:	n/a	n/a
23	CEBPB	chr12:83425252-83425259	A549	lung:	n/a	n/a
24	CEBPB	chr12:83409818-83410473	HCT-116	colon:	n/a	n/a
25	CEBPB	chr12:83390558-83390906	Hela-S3	cervix:	n/a	chr12:83390848-83390859
26	CEBPB	chr12:83409690-83410375	K562	blood:	n/a	n/a
27	CEBPB	chr12:83437540-83437749	HepG2	liver:	n/a	chr12:83437684-83437697 chr12:83437643-83437654 chr12:83437643-83437656
28	CEBPB	chr12:83409835-83410602	HCT-116	colon:	n/a	n/a
29	CEBPB	chr12:83421206-83421358	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr12:83374924-83375261	IMR90	lung:	n/a	chr12:83375100-83375111 chr12:83374988-83375001
31	CEBPB	chr12:83442400-83442578	K562	blood:	n/a	n/a
32	CEBPB	chr12:83374978-83375251	A549	lung:	n/a	chr12:83375100-83375111 chr12:83374988-83375001
33	CEBPB	chr12:83421172-83421490	A549	lung:	n/a	n/a
34	CEBPB	chr12:83409470-83410432	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr12:83408928-83409231	K562	blood:	n/a	n/a
36	CHD2	chr12:83390339-83390366	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:83398496-83398743	Gliobla	brain:	n/a	n/a
38	CTCF	chr12:83398480-83398630	HAc	cerebellar:	n/a	n/a
39	CTCF	chr12:83398396-83398815	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:83398540-83398690	HL-60	blood:	n/a	n/a
41	CTCF	chr12:83398540-83398690	HEK293	kidney:	n/a	n/a
42	CTCF	chr12:83398560-83398710	HMF	breast:	n/a	n/a
43	CTCF	chr12:83398520-83398670	HCM	heart:	n/a	n/a
44	CTCF	chr12:83398502-83398717	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:83381117-83381158	Fibrobl	skin:	n/a	n/a
46	CTCF	chr12:83398480-83398630	AG10803	skin:	n/a	n/a
47	CTCF	chr12:83398480-83398630	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr12:83398560-83398710	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:83398501-83398690	Lung_OC	lung:	n/a	n/a
50	CTCF	chr12:83398540-83398690	NHDF-neo	bronchial:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83436797-83436847	AoSMC	blood vessel:	n/a
2	chr12:83436797-83436847	SAEC	small airway:	n/a
3	chr12:83436797-83436847	PFSK-1	brain:	n/a
4	chr12:83436797-83436847	Caco-2	colon:	n/a
5	chr12:83436797-83436847	ProgFib	skin:	n/a
6	chr12:83436797-83436847	HCF	heart:	n/a
7	chr12:83436797-83436847	HEEpiC	esophagus:	n/a
8	chr12:83436797-83436847	HRPEpiC	eye:	n/a
9	chr12:83436797-83436847	HCM	heart:	n/a
10	chr12:83436797-83436847	RPTEC	kidney:	n/a
11	chr12:83436797-83436847	LNCaP	prostate:	n/a
12	chr12:83436797-83436847	AG09319	gingival:	n/a
13	chr12:83436797-83436847	HRE	kidney:	n/a
14	chr12:83436797-83436847	Jurkat	blood:	n/a
15	chr12:83436797-83436847	HEK293	kidney:	embryo
16	chr12:83436797-83436847	PrEC	prostate:	n/a
17	chr12:83436797-83436847	SKMC	muscle:	n/a
18	chr12:83436797-83436847	NT2-D1	testis:	n/a
19	chr12:83436797-83436847	HRCEpiC	kidney:	n/a
20	chr12:83436797-83436847	AG09309	skin:	n/a
21	chr12:83436797-83436847	PANC-1	pancreas:	n/a
22	chr12:83436797-83436847	NB4	blood:	n/a
23	chr12:83436797-83436847	GM19239	blood:	n/a
24	chr12:83436797-83436847	ovcar-3	ovarian:	n/a
25	chr12:83436797-83436847	HL-60	blood:	n/a
26	chr12:83436797-83436847	K562	blood:	n/a
27	chr12:83436797-83436847	HCT-116	colon:	n/a
28	chr12:83436797-83436847	ECC-1	luminal epithelium:	n/a
29	chr12:83436797-83436847	CMK	blood:	n/a
30	chr12:83436797-83436847	SK-N-MC	brain:	n/a
31	chr12:83436797-83436847	GM12891	blood:	n/a
32	chr12:83436797-83436847	H1-hESC	embryonic stem cell:	embryo
33	chr12:83436797-83436847	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:83436797-83436847	GM06990	blood:	n/a
35	chr12:83436797-83436847	MCF-7	breast:	n/a
36	chr12:83436797-83436847	HepG2	liver:	n/a
37	chr12:83436797-83436847	T-47D	breast:	n/a
38	chr12:83436797-83436847	Hepatocyte	liver:	n/a
39	chr12:83436797-83436847	NHDF-neo	bronchial:	n/a
40	chr12:83436797-83436847	HIPEpiC	eye:	n/a
41	chr12:83436797-83436847	A549	lung:	n/a
42	chr12:83436797-83436847	NHBE	bronchial:	n/a
43	chr12:83436797-83436847	SK-N-SH_RA	brain:	n/a
44	chr12:83436797-83436847	HNPCEpiC	eye:	n/a
45	chr12:83436797-83436847	HCPEpiC	choroid plexus:	n/a
46	chr12:83436797-83436847	HUVEC	blood vessel:	n/a
47	chr12:83436797-83436847	HAEpiC	amniotic membrane:	n/a
48	chr12:83436797-83436847	GM12878	blood:	n/a
49	chr12:83436797-83436847	U87	brain:	n/a
50	chr12:83436797-83436847	NH-A	brain:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83369189..83370820-chr12:83374868..83377615,2	MCF-7	breast:
2	chr12:83079612..83081545-chr12:83368950..83370563,2	MCF-7	breast:
3	chr12:83369189..83370820-chr12:83374868..83377615,2	MCF-7	breast:
4	chr12:83364622..83366289-chr12:83368200..83369793,2	K562	blood:
5	chr12:83398128..83399066-chr12:83782720..83783715,3	K562	blood:
6	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
7	chr12:83422630..83425371-chr12:83427227..83429667,2	K562	blood:
8	chr12:83376935..83379411-chr12:83411296..83413142,2	MCF-7	breast:
9	chr12:83079421..83081926-chr12:83392730..83394368,2	MCF-7	breast:
10	chr12:83423270..83425882-chr12:83433860..83436720,2	K562	blood:
11	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:
12	chr12:83443025..83445340-chr12:83453373..83455462,2	K562	blood:
13	chr12:83404495..83407121-chr12:83413024..83415262,2	K562	blood:
14	chr12:83078910..83080496-chr12:83405630..83407973,2	MCF-7	breast:
15	chr12:83079605..83080356-chr12:83398378..83399038,2	MCF-7	breast:
16	chr12:83423270..83425882-chr12:83433860..83436720,2	K562	blood:
17	chr12:83436175..83438871-chr14:91881648..91884275,2	MCF-7	breast:
18	chr12:83443059..83446999-chr12:83447575..83450330,4	K562	blood:
19	chr12:83404495..83407121-chr12:83413024..83415262,2	K562	blood:
20	chr12:83432652..83435598-chr12:83445768..83447475,2	K562	blood:
21	chr12:83079062..83081890-chr12:83395657..83398475,2	MCF-7	breast:
22	chr12:83409329..83411312-chr12:83542800..83545681,4	K562	blood:
23	chr12:83364622..83366289-chr12:83368200..83369793,2	K562	blood:
24	chr12:83376935..83379411-chr12:83411296..83413142,2	MCF-7	breast:
25	chr12:83422630..83425371-chr12:83427227..83429667,2	K562	blood:
26	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:
27	chr12:83342058..83344006-chr12:83365931..83367769,2	MCF-7	breast:
28	chr12:83415930..83418702-chr12:83439696..83442546,2	K562	blood:
29	chr12:83435873..83438111-chr12:83445616..83447681,2	K562	blood:
30	chr12:83415930..83418702-chr12:83439696..83442546,2	K562	blood:
31	chr12:83396959..83399926-chr12:83808616..83810997,2	K562	blood:
32	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:
33	chr12:83410459..83412121-chr12:83415029..83417883,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-977P	TF binding region
RNU6-977P	CpG island
ENSG00000015133	chromatin interactions
ENSG00000179104	chromatin interactions
ENSG00000213270	chromatin interactions
ENSG00000252220	chromatin interactions

Extended variants
information (count: 3397 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3397 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531690752	chr12:83362308-83362309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148438960	chr12:83362346-83362347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536771958	chr12:83362552-83362553	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538991690	chr12:83362558-83362559	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145150434	chr12:83362563-83362564	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566723887	chr12:83362619-83362620	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528669487	chr12:83362628-83362629	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534086131	chr12:83362646-83362647	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188429276	chr12:83362670-83362671	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573928487	chr12:83362793-83362794	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191351919	chr12:83362802-83362803	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537520436	chr12:83362865-83362866	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556257797	chr12:83362874-83362875	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571928766	chr12:83362881-83362882	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577679374	chr12:83362930-83362931	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147606821	chr12:83362967-83362968	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140507617	chr12:83362988-83362989	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542226414	chr12:83363114-83363115	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185060682	chr12:83363218-83363219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189522779	chr12:83363348-83363349	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144472235	chr12:83363349-83363350	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151232226	chr12:83363363-83363364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76086949	chr12:83363367-83363368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140443895	chr12:83363400-83363401	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565354556	chr12:83363411-83363412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532501070	chr12:83363551-83363552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150409947	chr12:83363591-83363592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566117973	chr12:83363624-83363625	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75127274	chr12:83363664-83363665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397808114	chr12:83363667-83363668	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534075525	chr12:83363777-83363778	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10862532	chr12:83363806-83363807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78083943	chr12:83363817-83363818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538011197	chr12:83363889-83363890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181114055	chr12:83363938-83363939	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555411772	chr12:83363982-83363983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577627269	chr12:83364032-83364033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538396486	chr12:83364069-83364070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145238774	chr12:83364079-83364080	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79723185	chr12:83364100-83364101	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546938394	chr12:83364151-83364152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs61332564	chr12:83364155-83364156	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs566584675	chr12:83364157-83364158	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs61010450	chr12:83364158-83364159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571737528	chr12:83364166-83364167	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542900990	chr12:83364169-83364170	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561213576	chr12:83364175-83364176	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576353704	chr12:83364179-83364180	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1200024	chr12:83364181-83364182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534466862	chr12:83364235-83364236	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83347000-83367200	Weak transcription	Gastric	stomach
2	chr12:83347000-83379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:83349400-83374600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:83356200-83379400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:83356400-83381600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:83356600-83381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:83357800-83363200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:83357800-83389600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:83358000-83389600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:83358200-83366200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:83358200-83368400	Weak transcription	Fetal Stomach	stomach
12	chr12:83358400-83363000	Weak transcription	Fetal Brain Male	brain
13	chr12:83358400-83366400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:83358400-83397600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:83358600-83368400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:83358600-83372200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:83358600-83379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:83358600-83394200	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:83358600-83399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:83358800-83362800	Weak transcription	Brain Germinal Matrix	brain
23	chr12:83359000-83362400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:83359200-83363400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:83359200-83365600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:83359400-83364200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83360400-83368200	Weak transcription	Fetal Lung	lung
28	chr12:83361800-83363200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:83362000-83382200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:83362200-83363200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:83362400-83364000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:83362800-83363200	Enhancers	Brain Germinal Matrix	brain
33	chr12:83363200-83364000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:83363200-83365600	Weak transcription	Brain Germinal Matrix	brain
35	chr12:83363200-83366400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:83363200-83368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:83363400-83367400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:83364000-83364600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr12:83364000-83368800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:83364200-83379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:83364600-83364800	Enhancers	Fetal Kidney	kidney
42	chr12:83364600-83366000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:83364800-83365800	Weak transcription	Fetal Kidney	kidney
44	chr12:83365600-83365800	Enhancers	Brain Hippocampus Middle	brain
45	chr12:83365600-83366200	Enhancers	Brain Germinal Matrix	brain
46	chr12:83365800-83366200	Enhancers	Fetal Kidney	kidney
47	chr12:83365800-83367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:83366000-83369000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:83366200-83366400	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:83366200-83366400	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links