Variant report

Variant	nsv558590
Chromosome Location	chr12:39724344-39751273
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	ARID3A	chr12:39734843-39735216	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:39726981-39727045	K562	blood:	n/a	n/a
3	ATF2	chr12:39734914-39735478	GM12878	blood:	n/a	n/a
4	ATF3	chr12:39748780-39749070	K562	blood:	n/a	n/a
5	BATF	chr12:39734939-39735488	GM12878	blood:	n/a	n/a
6	BATF	chr12:39734956-39735511	GM12878	blood:	n/a	n/a
7	BCL11A	chr12:39734955-39735370	GM12878	blood:	n/a	n/a
8	CEBPB	chr12:39724202-39724401	HepG2	liver:	n/a	chr12:39724314-39724325 chr12:39724316-39724327
9	CEBPB	chr12:39724245-39724382	A549	lung:	n/a	chr12:39724314-39724325 chr12:39724316-39724327
10	CEBPB	chr12:39735556-39735740	HepG2	liver:	n/a	chr12:39735638-39735649
11	CTCF	chr12:39746480-39746630	AG04450	lung:	n/a	n/a
12	CUX1	chr12:39734739-39735396	GM12878	blood:	n/a	n/a
13	CUX1	chr12:39744272-39744411	GM12878	blood:	n/a	n/a
14	E2F4	chr12:39733988-39734153	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr12:39749713-39750059	GM12878	blood:	n/a	n/a
16	EBF1	chr12:39735057-39735342	GM12878	blood:	n/a	n/a
17	EP300	chr12:39726241-39727169	SK-N-SH	brain:	n/a	chr12:39726664-39726672
18	EP300	chr12:39730963-39730967	K562	blood:	n/a	n/a
19	EP300	chr12:39734840-39734845	K562	blood:	n/a	n/a
20	EP300	chr12:39746297-39746616	GM12878	blood:	n/a	chr12:39746417-39746431
21	EP300	chr12:39734979-39735442	GM12878	blood:	n/a	n/a
22	EP300	chr12:39744634-39745365	SK-N-SH_RA	brain:	n/a	chr12:39744927-39744941
23	EP300	chr12:39744068-39745563	SK-N-SH	brain:	n/a	chr12:39744927-39744941 chr12:39745535-39745544
24	EP300	chr12:39726405-39726773	SK-N-SH_RA	brain:	n/a	chr12:39726664-39726672
25	EP300	chr12:39727368-39727403	GM12878	blood:	n/a	n/a
26	EP300	chr12:39726500-39726820	SK-N-SH_RA	brain:	n/a	chr12:39726664-39726672
27	EP300	chr12:39744824-39745404	SK-N-SH_RA	brain:	n/a	chr12:39744927-39744941
28	EP300	chr12:39745871-39746185	SK-N-SH_RA	brain:	n/a	n/a
29	FOS	chr12:39748925-39749014	MCF10A-Er-Src	breast:	n/a	chr12:39748976-39748985 chr12:39748977-39748984 chr12:39748976-39748984 chr12:39748975-39748985 chr12:39748974-39748986 chr12:39748972-39748983
30	FOS	chr12:39748814-39749129	MCF10A-Er-Src	breast:	n/a	chr12:39748976-39748985 chr12:39748977-39748984 chr12:39748976-39748984 chr12:39748975-39748985 chr12:39748974-39748986 chr12:39748972-39748983
31	FOS	chr12:39735045-39735223	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:39734980-39735232	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr12:39748848-39749050	MCF10A-Er-Src	breast:	n/a	chr12:39748976-39748985 chr12:39748977-39748984 chr12:39748976-39748984 chr12:39748975-39748985 chr12:39748974-39748986 chr12:39748972-39748983
34	FOSL2	chr12:39748762-39749176	MCF-7	breast:	n/a	chr12:39748976-39748985 chr12:39748977-39748984 chr12:39748976-39748984 chr12:39748975-39748985 chr12:39748974-39748986 chr12:39748972-39748983
35	FOXA1	chr12:39744666-39745032	T-47D	breast:	n/a	chr12:39744864-39744879
36	FOXA1	chr12:39734884-39735206	HepG2	liver:	n/a	n/a
37	FOXM1	chr12:39734818-39735582	GM12878	blood:	n/a	n/a
38	GATA2	chr12:39748782-39749180	HUVEC	blood vessel:	n/a	n/a
39	GATA2	chr12:39726403-39726964	SH-SY5Y	brain:	n/a	chr12:39726929-39726938
40	GATA3	chr12:39748827-39749190	SK-N-SH	brain:	n/a	chr12:39749176-39749186
41	GATA3	chr12:39748784-39749201	MCF-7	breast:	n/a	chr12:39749176-39749186
42	GATA3	chr12:39724725-39725080	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr12:39744814-39745433	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr12:39726501-39726891	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr12:39733498-39733628	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr12:39744988-39745203	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr12:39740183-39740383	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr12:39744886-39745506	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr12:39750115-39750259	SH-SY5Y	brain:	n/a	chr12:39750235-39750246
50	GATA3	chr12:39726357-39726845	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:39726715-39726765	RPTEC	kidney:	n/a
2	chr12:39726715-39726765	NH-A	brain:	n/a
3	chr12:39726715-39726765	ECC-1	luminal epithelium:	n/a
4	chr12:39727030-39727080	HRPEpiC	eye:	n/a
5	chr12:39726715-39726765	SKMC	muscle:	n/a
6	chr12:39727030-39727080	GM12878	blood:	n/a
7	chr12:39727030-39727080	IMR90	lung:	fetal
8	chr12:39726715-39726765	HCT-116	colon:	n/a
9	chr12:39726715-39726765	Caco-2	colon:	n/a
10	chr12:39726715-39726765	Hepatocyte	liver:	n/a
11	chr12:39726715-39726765	A549	lung:	n/a
12	chr12:39726715-39726765	AG10803	skin:	n/a
13	chr12:39726715-39726765	PANC-1	pancreas:	n/a
14	chr12:39726715-39726765	HRCEpiC	kidney:	n/a
15	chr12:39726715-39726765	H1-hESC	embryonic stem cell:	embryo
16	chr12:39727030-39727080	ovcar-3	ovarian:	n/a
17	chr12:39727030-39727080	HIPEpiC	eye:	n/a
18	chr12:39727030-39727080	U87	brain:	n/a
19	chr12:39726715-39726765	HL-60	blood:	n/a
20	chr12:39727030-39727080	AG04450	lung:	fetal
21	chr12:39727030-39727080	SAEC	small airway:	n/a
22	chr12:39727030-39727080	PrEC	prostate:	n/a
23	chr12:39726715-39726765	HNPCEpiC	eye:	n/a
24	chr12:39727030-39727080	Hepatocyte	liver:	n/a
25	chr12:39727030-39727080	HRCEpiC	kidney:	n/a
26	chr12:39727030-39727080	NHDF-neo	bronchial:	n/a
27	chr12:39726715-39726765	NHBE	bronchial:	n/a
28	chr12:39726715-39726765	GM06990	blood:	n/a
29	chr12:39727030-39727080	HCT-116	colon:	n/a
30	chr12:39726715-39726765	SK-N-SH	brain:	n/a
31	chr12:39727030-39727080	HEEpiC	esophagus:	n/a
32	chr12:39727030-39727080	ProgFib	skin:	n/a
33	chr12:39726715-39726765	K562	blood:	n/a
34	chr12:39727030-39727080	GM12892	blood:	n/a
35	chr12:39727030-39727080	HL-60	blood:	n/a
36	chr12:39726715-39726765	NB4	blood:	n/a
37	chr12:39726715-39726765	U87	brain:	n/a
38	chr12:39726715-39726765	MCF-7	breast:	n/a
39	chr12:39727030-39727080	SK-N-SH	brain:	n/a
40	chr12:39727030-39727080	GM06990	blood:	n/a
41	chr12:39726715-39726765	GM12892	blood:	n/a
42	chr12:39726715-39726765	HEK293	kidney:	embryo
43	chr12:39726715-39726765	IMR90	lung:	fetal
44	chr12:39727030-39727080	HEK293	kidney:	embryo
45	chr12:39726715-39726765	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:39726715-39726765	AoSMC	blood vessel:	n/a
47	chr12:39727030-39727080	SK-N-MC	brain:	n/a
48	chr12:39726715-39726765	Hela-S3	cervix:	n/a
49	chr12:39726715-39726765	HMEC	breast:	n/a
50	chr12:39726715-39726765	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:39746719..39749261-chr12:39836622..39838192,2	MCF-7	breast:
2	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:
3	chr12:39742374..39745219-chr12:39747056..39748871,3	K562	blood:
4	chr12:39738067..39741527-chr12:39743955..39747329,3	MCF-7	breast:
5	chr12:39727146..39729804-chr12:39835867..39838331,2	K562	blood:
6	chr12:39738067..39741527-chr12:39743955..39747329,3	MCF-7	breast:
7	chr12:39743968..39746775-chr12:39830107..39832162,2	K562	blood:
8	chr12:39735428..39738305-chr12:39770401..39772553,2	K562	blood:
9	chr12:39747731..39750258-chr12:39836308..39838380,2	K562	blood:
10	chr12:39747712..39750921-chr12:39754829..39757616,3	K562	blood:
11	chr12:39729399..39730971-chr12:39733599..39736235,2	MCF-7	breast:
12	chr12:39736502..39739070-chr12:39744339..39745945,2	K562	blood:
13	chr12:39743944..39745971-chr12:39833401..39836053,2	K562	blood:
14	chr12:39741674..39745219-chr12:39746773..39748556,3	K562	blood:
15	chr12:39723120..39728244-chr12:39834929..39837982,4	MCF-7	breast:
16	chr12:39734809..39736531-chr12:39748406..39750857,2	K562	blood:
17	chr12:39742374..39745219-chr12:39747056..39748871,3	K562	blood:
18	chr12:39741674..39745219-chr12:39746773..39748556,3	K562	blood:
19	chr12:39736502..39739070-chr12:39744339..39745945,2	K562	blood:
20	chr12:39748533..39750921-chr12:39755964..39757616,2	K562	blood:
21	chr12:39746862..39749786-chr12:39834162..39836937,2	K562	blood:
22	chr12:39724474..39727162-chr12:39736483..39738898,2	K562	blood:
23	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD2-5	chr12:39751050-39751089	NONHSAT027704
2	lnc-ABCD2-5	chr12:39750402-39750697	NONHSAT027704

Variant related genes	Relation type
KIF21A	TF binding region
KIF21A	CpG island
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 932 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17127032	chr12:39724344-39724345	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550403990	chr12:39724357-39724358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117042053	chr12:39724411-39724412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs535999370	chr12:39724436-39724437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113913853	chr12:39724448-39724449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112732519	chr12:39724452-39724453	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576904648	chr12:39724502-39724503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372345896	chr12:39724506-39724507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377193734	chr12:39724566-39724567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533849049	chr12:39724621-39724622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372101773	chr12:39724725-39724726	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368284924	chr12:39724740-39724741	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78967952	chr12:39724771-39724772	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577146030	chr12:39724800-39724801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192150001	chr12:39724857-39724858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562801910	chr12:39724900-39724901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574989511	chr12:39724928-39724929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562390931	chr12:39724977-39724978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10876876	chr12:39724996-39724997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs147914421	chr12:39725099-39725100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75766457	chr12:39725147-39725148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113965869	chr12:39725204-39725205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139991570	chr12:39725234-39725235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369706568	chr12:39725245-39725246	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187127797	chr12:39725269-39725270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372239372	chr12:39725289-39725290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532004333	chr12:39725303-39725304	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192343122	chr12:39725305-39725306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376212446	chr12:39725341-39725342	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568810310	chr12:39725360-39725361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184459174	chr12:39725372-39725373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547944869	chr12:39725396-39725397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372245943	chr12:39725468-39725469	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376935128	chr12:39725489-39725490	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142268373	chr12:39725496-39725497	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34552314	chr12:39725520-39725521	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs79512568	chr12:39725527-39725528	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145404005	chr12:39725534-39725535	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113796726	chr12:39725573-39725574	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs146384175	chr12:39725577-39725578	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs145207490	chr12:39725584-39725585	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11171758	chr12:39725655-39725656	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537805805	chr12:39725683-39725684	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76467693	chr12:39725705-39725706	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574953212	chr12:39725742-39725743	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542328078	chr12:39725748-39725749	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554338277	chr12:39725805-39725806	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572675598	chr12:39725842-39725843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs546420342	chr12:39725848-39725849	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs149129856	chr12:39725880-39725881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39686600-39725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
4	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:39688400-39724600	Weak transcription	Esophagus	oesophagus
6	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
7	chr12:39689600-39725400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:39695000-39726400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:39695000-39726400	Weak transcription	HepG2	liver
10	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
12	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
13	chr12:39698000-39724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:39698200-39724400	Weak transcription	K562	blood
15	chr12:39698600-39725200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:39698600-39725400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:39699600-39724600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:39701000-39726400	Weak transcription	Left Ventricle	heart
20	chr12:39701600-39725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:39701800-39724400	Weak transcription	HMEC	breast
22	chr12:39704200-39746200	Weak transcription	HUVEC	blood vessel
23	chr12:39710800-39724800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:39711200-39726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:39713800-39725400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:39714800-39727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:39715600-39741800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:39717800-39724800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:39717800-39727400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:39718400-39756800	Weak transcription	HSMM	muscle
31	chr12:39718600-39724400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:39719600-39725400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:39720600-39725400	Weak transcription	A549	lung
34	chr12:39721000-39770600	Weak transcription	Gastric	stomach
35	chr12:39721600-39724400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:39721600-39734600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:39721600-39752400	Weak transcription	Right Ventricle	heart
38	chr12:39722000-39729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:39722200-39724800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:39722400-39724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:39722400-39725000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:39722400-39726000	Strong transcription	Fetal Brain Female	brain
43	chr12:39722600-39725400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:39722600-39726400	Weak transcription	Ovary	ovary
45	chr12:39722600-39737000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:39722800-39724400	Weak transcription	GM12878-XiMat	blood
47	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:39723000-39724600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:39723000-39725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:39723000-39725400	Weak transcription	Colonic Mucosa	Colon

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