Variant report

Variant	nsv967217
Chromosome Location	chr3:50139849-50146222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:367)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:50140420-50140570	GM12871	blood:	n/a	n/a
2	CTCF	chr3:50141777-50141842	Pancreas_OC	pancreas:	n/a	n/a
3	FAM48A	chr3:50141372-50141435	GM12878	blood:	n/a	n/a
4	MAFF	chr3:50140213-50140388	HepG2	liver:	n/a	chr3:50140290-50140308
5	MAFK	chr3:50140161-50140349	HepG2	liver:	n/a	n/a
6	NRF1	chr3:50140444-50140612	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:50141786-50141855	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:50142750-50143287	GM12891	blood:	n/a	n/a
9	POLR2A	chr3:50140057-50140480	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:50144377-50144432	K562	blood:	n/a	n/a
11	POLR2A	chr3:50140208-50140261	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:50140042-50140483	MCF-7	breast:	n/a	n/a
13	POLR2A	chr3:50145804-50146101	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:50142810-50143010	K562	blood:	n/a	n/a
15	POLR2A	chr3:50143454-50143526	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:50142734-50143268	GM12892	blood:	n/a	n/a
17	POLR2A	chr3:50144930-50144973	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:50141707-50142375	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:50141227-50141527	GM12892	blood:	n/a	n/a
20	POLR2A	chr3:50140486-50141181	HepG2	liver:	n/a	n/a
21	POLR2A	chr3:50140995-50141015	K562	blood:	n/a	n/a
22	POLR2A	chr3:50144280-50144398	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr3:50142945-50143099	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:50144173-50145051	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:50143185-50143195	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr3:50144455-50144469	K562	blood:	n/a	n/a
27	POLR2A	chr3:50144329-50144336	HepG2	liver:	n/a	n/a
28	POLR2A	chr3:50140799-50140909	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:50139601-50140519	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr3:50139597-50141552	GM12892	blood:	n/a	n/a
31	POLR2A	chr3:50140269-50140422	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:50144165-50145129	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:50144708-50144922	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:50144889-50145034	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:50140034-50140439	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:50144396-50144494	HepG2	liver:	n/a	n/a
37	POLR2A	chr3:50144725-50144955	K562	blood:	n/a	n/a
38	POLR2A	chr3:50142645-50143133	HepG2	liver:	n/a	n/a
39	POLR2A	chr3:50140019-50140581	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr3:50143406-50143448	HepG2	liver:	n/a	n/a
41	POLR2A	chr3:50141595-50142105	GM12892	blood:	n/a	n/a
42	POLR2A	chr3:50140323-50140335	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr3:50145402-50145762	GM12891	blood:	n/a	n/a
44	POLR2A	chr3:50139521-50140668	GM12891	blood:	n/a	n/a
45	POLR2A	chr3:50139579-50141169	GM12891	blood:	n/a	n/a
46	POLR2A	chr3:50139988-50140491	K562	blood:	n/a	n/a
47	POLR2A	chr3:50137315-50141453	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:50146034-50146483	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:50144682-50144693	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:50142073-50142081	HepG2	liver:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50140314-50140364	AG04449	skin:	fetal
2	chr3:50140314-50140364	AG04449	skin:	fetal
3	chr3:50140275-50140325	SKMC	muscle:	n/a
4	chr3:50140329-50140379	HCF	heart:	n/a
5	chr3:50140110-50140160	GM12891	blood:	n/a
6	chr3:50140110-50140160	CMK	blood:	n/a
7	chr3:50140110-50140160	HepG2	liver:	n/a
8	chr3:50140110-50140160	HMEC	breast:	n/a
9	chr3:50140110-50140160	HRE	kidney:	n/a
10	chr3:50140110-50140160	HEK293	kidney:	embryo
11	chr3:50140314-50140364	AoSMC	blood vessel:	n/a
12	chr3:50140314-50140364	Hela-S3	cervix:	n/a
13	chr3:50140329-50140379	CMK	blood:	n/a
14	chr3:50140314-50140364	AG10803	skin:	n/a
15	chr3:50140246-50140296	MCF10A-Er-Src	breast:	n/a
16	chr3:50140275-50140325	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:50140314-50140364	H1-hESC	embryonic stem cell:	embryo
18	chr3:50140275-50140325	HCF	heart:	n/a
19	chr3:50140329-50140379	HepG2	liver:	n/a
20	chr3:50140110-50140160	HUVEC	blood vessel:	n/a
21	chr3:50140110-50140160	SKMC	muscle:	n/a
22	chr3:50140329-50140379	Jurkat	blood:	n/a
23	chr3:50140329-50140379	HRPEpiC	eye:	n/a
24	chr3:50140385-50140435	AG04449	skin:	fetal
25	chr3:50140275-50140325	HEK293	kidney:	embryo
26	chr3:50140275-50140325	Hepatocyte	liver:	n/a
27	chr3:50140385-50140435	RPTEC	kidney:	n/a
28	chr3:50140275-50140325	NHDF-neo	bronchial:	n/a
29	chr3:50140329-50140379	HMEC	breast:	n/a
30	chr3:50140110-50140160	HCT-116	colon:	n/a
31	chr3:50140275-50140325	NT2-D1	testis:	n/a
32	chr3:50140314-50140364	SKMC	muscle:	n/a
33	chr3:50140314-50140364	Jurkat	blood:	n/a
34	chr3:50140246-50140296	T-47D	breast:	n/a
35	chr3:50140110-50140160	NHDF-neo	bronchial:	n/a
36	chr3:50140246-50140296	K562	blood:	n/a
37	chr3:50140385-50140435	HNPCEpiC	eye:	n/a
38	chr3:50140110-50140160	Jurkat	blood:	n/a
39	chr3:50140329-50140379	AG10803	skin:	n/a
40	chr3:50140329-50140379	ECC-1	luminal epithelium:	n/a
41	chr3:50140329-50140379	HRE	kidney:	n/a
42	chr3:50140314-50140364	HEEpiC	esophagus:	n/a
43	chr3:50140314-50140364	K562	blood:	n/a
44	chr3:50140314-50140364	ECC-1	luminal epithelium:	n/a
45	chr3:50140110-50140160	AoSMC	blood vessel:	n/a
46	chr3:50140246-50140296	H1-hESC	embryonic stem cell:	embryo
47	chr3:50140275-50140325	K562	blood:	n/a
48	chr3:50140110-50140160	GM19239	blood:	n/a
49	chr3:50140246-50140296	LNCaP	prostate:	n/a
50	chr3:50140385-50140435	A549	lung:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50139935..50141821-chr3:50143256..50144852,2	MCF-7	breast:
2	chr3:50144744..50147316-chr3:50219770..50222620,2	K562	blood:
3	chr3:50140494..50142592-chr3:50149296..50150915,2	K562	blood:
4	chr3:50139935..50141821-chr3:50143256..50144852,2	MCF-7	breast:
5	chr3:50127396..50129156-chr3:50141876..50143415,2	K562	blood:
6	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:

No data

Variant related genes	Relation type
RBM5	TF binding region
RBM5	CpG island
ENSG00000001617	chromatin interactions
ENSG00000003756	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534922719	chr3:50139876-50139877	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201507480	chr3:50139909-50139910	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537615844	chr3:50139912-50139913	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551052901	chr3:50139968-50139969	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569210236	chr3:50140001-50140002	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539859753	chr3:50140013-50140014	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559562141	chr3:50140044-50140045	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557724933	chr3:50140110-50140111	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185992635	chr3:50140113-50140114	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534208429	chr3:50140136-50140137	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555608707	chr3:50140199-50140200	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574202317	chr3:50140247-50140248	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190265715	chr3:50140257-50140258	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562612744	chr3:50140265-50140266	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182533692	chr3:50140414-50140415	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373298613	chr3:50140434-50140435	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545049773	chr3:50140441-50140442	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560174917	chr3:50140471-50140472	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377506519	chr3:50140476-50140477	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372860965	chr3:50140497-50140498	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs56783610	chr3:50140521-50140522	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112699450	chr3:50140593-50140594	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201739036	chr3:50140646-50140647	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142197768	chr3:50140693-50140694	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145803285	chr3:50140700-50140701	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531539836	chr3:50140758-50140759	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138251450	chr3:50140777-50140778	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569379498	chr3:50140778-50140779	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367758578	chr3:50140794-50140795	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539528797	chr3:50140818-50140819	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551397785	chr3:50140850-50140851	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566545285	chr3:50140851-50140852	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538646203	chr3:50140858-50140859	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186964453	chr3:50140929-50140930	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575241320	chr3:50140946-50140947	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528311048	chr3:50140951-50140952	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543652843	chr3:50140952-50140953	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555643598	chr3:50140953-50140954	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574211173	chr3:50140972-50140973	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538474184	chr3:50140973-50140974	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556478119	chr3:50140998-50140999	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577700334	chr3:50141004-50141005	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545139064	chr3:50141021-50141022	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560260075	chr3:50141033-50141034	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192227465	chr3:50141041-50141042	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572073536	chr3:50141107-50141108	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369477057	chr3:50141119-50141120	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149490380	chr3:50141143-50141144	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs9849605	chr3:50141150-50141151	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76660425	chr3:50141189-50141190	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50127400-50150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:50127800-50157800	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr3:50128000-50152600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50128000-50157800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:50128000-50158000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:50128000-50158000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:50128200-50152800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr3:50128200-50158800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:50128400-50148800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:50128400-50157800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:50128400-50158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50128400-50158400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:50128400-50159000	Strong transcription	Lung	lung
14	chr3:50128600-50141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:50128600-50148800	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:50128600-50156200	Strong transcription	Ovary	ovary
17	chr3:50128600-50158000	Strong transcription	NH-A	brain
18	chr3:50128600-50158400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:50128600-50158400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:50128600-50158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:50128600-50158600	Strong transcription	Colonic Mucosa	Colon
22	chr3:50128600-50158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:50128600-50158800	Strong transcription	Brain Germinal Matrix	brain
24	chr3:50128600-50158800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr3:50128600-50159000	Strong transcription	Brain Angular Gyrus	brain
26	chr3:50128600-50159000	Strong transcription	Placenta	Placenta
27	chr3:50128600-50159000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:50128600-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50128600-50159200	Strong transcription	Liver	Liver
30	chr3:50128600-50159200	Strong transcription	NHEK	skin
31	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
32	chr3:50128800-50149000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:50128800-50156600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:50128800-50156600	Strong transcription	Brain Substantia Nigra	brain
35	chr3:50128800-50158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:50128800-50158600	Strong transcription	HMEC	breast
37	chr3:50128800-50159000	Strong transcription	Brain Anterior Caudate	brain
38	chr3:50129000-50141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:50129000-50158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:50129000-50158600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr3:50129000-50158800	Strong transcription	Fetal Intestine Large	intestine
42	chr3:50129000-50159000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:50129000-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:50129000-50159200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr3:50129000-50159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:50129000-50159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:50129000-50160000	Strong transcription	Fetal Stomach	stomach
48	chr3:50129000-50160000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:50129200-50147600	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links