Variant report

Variant	nsv559025
Chromosome Location	chr12:57594599-57598889
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	POLR2A	chr12:57596947-57599227	U87	brain:	n/a	n/a
2	POLR2A	chr12:57595249-57595433	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:57596911-57599227	U87	brain:	n/a	n/a
4	POLR2A	chr12:57598183-57598517	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:57598465-57598554	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:57594648-57595161	U87	brain:	n/a	n/a
7	POLR2A	chr12:57597803-57598295	U87	brain:	n/a	n/a
8	POLR2A	chr12:57595496-57595664	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:57594557-57594688	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:57596830-57596872	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:57595600-57595618	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:57597141-57597336	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:57595900-57595904	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:57597688-57598225	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:57595823-57596370	U87	brain:	n/a	n/a
16	POLR2A	chr12:57598142-57598323	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:57595520-57596370	U87	brain:	n/a	n/a
18	POLR2A	chr12:57596507-57596524	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57597718-57597948	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:57597769-57597986	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:57594691-57594761	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:57597803-57598201	U87	brain:	n/a	n/a
23	POLR2A	chr12:57596141-57596308	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:57594765-57594826	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:57596600-57596782	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:57595274-57595540	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:57598335-57598449	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:57595470-57595576	HepG2	liver:	n/a	n/a
29	REST	chr12:57595065-57595401	PANC-1	pancreas:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
30	REST	chr12:57594973-57595416	HL-60	blood:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
31	REST	chr12:57595005-57595308	K562	blood:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
32	REST	chr12:57595034-57595260	Hela-S3	cervix:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
33	REST	chr12:57595064-57595267	K562	blood:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
34	REST	chr12:57595110-57595259	H1-hESC	embryonic stem cell:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
35	REST	chr12:57594968-57595430	ECC-1	luminal epithelium:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
36	REST	chr12:57595040-57595336	A549	lung:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
37	REST	chr12:57595055-57595256	H1-hESC	embryonic stem cell:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
38	REST	chr12:57595096-57595272	Hela-S3	cervix:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
39	REST	chr12:57594957-57595433	ECC-1	luminal epithelium:	n/a	chr12:57595179-57595199 chr12:57595183-57595196 chr12:57595179-57595193 chr12:57595179-57595199
40	ZNF263	chr12:57594741-57594985	HEK293-T-REx	kidney:	n/a	chr12:57594801-57594810 chr12:57594798-57594807 chr12:57594794-57594815

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57595592-57595642	CMK	blood:	n/a
2	chr12:57595554-57595604	HIPEpiC	eye:	n/a
3	chr12:57595592-57595642	H1-hESC	embryonic stem cell:	embryo
4	chr12:57595605-57595655	SAEC	small airway:	n/a
5	chr12:57595357-57595407	AG04450	lung:	fetal
6	chr12:57595353-57595403	HMEC	breast:	n/a
7	chr12:57595605-57595655	NT2-D1	testis:	n/a
8	chr12:57595357-57595407	SK-N-MC	brain:	n/a
9	chr12:57595554-57595604	AG10803	skin:	n/a
10	chr12:57597136-57597186	GM12891	blood:	n/a
11	chr12:57597770-57597820	GM12891	blood:	n/a
12	chr12:57595592-57595642	Jurkat	blood:	n/a
13	chr12:57595605-57595655	ovcar-3	ovarian:	n/a
14	chr12:57595357-57595407	HIPEpiC	eye:	n/a
15	chr12:57595605-57595655	PANC-1	pancreas:	n/a
16	chr12:57597770-57597820	Caco-2	colon:	n/a
17	chr12:57597136-57597186	AG09309	skin:	n/a
18	chr12:57595605-57595655	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:57595592-57595642	MCF-7	breast:	n/a
20	chr12:57595357-57595407	ProgFib	skin:	n/a
21	chr12:57595353-57595403	HNPCEpiC	eye:	n/a
22	chr12:57595357-57595407	HCPEpiC	choroid plexus:	n/a
23	chr12:57595353-57595403	SK-N-SH	brain:	n/a
24	chr12:57595353-57595403	AG04449	skin:	fetal
25	chr12:57595554-57595604	NT2-D1	testis:	n/a
26	chr12:57597238-57597288	ovcar-3	ovarian:	n/a
27	chr12:57595554-57595604	HCT-116	colon:	n/a
28	chr12:57597136-57597186	HRPEpiC	eye:	n/a
29	chr12:57597136-57597186	LNCaP	prostate:	n/a
30	chr12:57595605-57595655	GM19239	blood:	n/a
31	chr12:57597770-57597820	HCF	heart:	n/a
32	chr12:57597238-57597288	GM12892	blood:	n/a
33	chr12:57595605-57595655	SK-N-SH	brain:	n/a
34	chr12:57595357-57595407	HL-60	blood:	n/a
35	chr12:57595605-57595655	GM06990	blood:	n/a
36	chr12:57595392-57595442	NB4	blood:	n/a
37	chr12:57597770-57597820	HMEC	breast:	n/a
38	chr12:57595357-57595407	NB4	blood:	n/a
39	chr12:57595592-57595642	NH-A	brain:	n/a
40	chr12:57597770-57597820	CMK	blood:	n/a
41	chr12:57595592-57595642	MCF10A-Er-Src	breast:	n/a
42	chr12:57595592-57595642	HCM	heart:	n/a
43	chr12:57595605-57595655	LNCaP	prostate:	n/a
44	chr12:57595353-57595403	LNCaP	prostate:	n/a
45	chr12:57597770-57597820	AG10803	skin:	n/a
46	chr12:57595353-57595403	AG10803	skin:	n/a
47	chr12:57595392-57595442	AG09309	skin:	n/a
48	chr12:57595357-57595407	HCT-116	colon:	n/a
49	chr12:57597770-57597820	LNCaP	prostate:	n/a
50	chr12:57597238-57597288	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:57593061..57596040-chr12:57632973..57635946,3	K562	blood:
2	chr12:57598445..57603565-chr12:57603905..57607963,7	K562	blood:
3	chr12:57585370..57589160-chr12:57594423..57597879,4	K562	blood:
4	chr12:57587383..57589092-chr12:57594725..57596825,2	MCF-7	breast:

Variant related genes	Relation type
LRP1	TF binding region
LRP1	CpG island
ENSG00000185633	chromatin interactions
ENSG00000221365	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs113580468	chr12:57594599-57594600	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371846208	chr12:57594605-57594606	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs367641449	chr12:57594609-57594610	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs200587754	chr12:57594613-57594614	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374933716	chr12:57594616-57594617	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569481832	chr12:57594659-57594660	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369571748	chr12:57594791-57594792	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150254492	chr12:57594825-57594826	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373000834	chr12:57594833-57594834	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199541775	chr12:57594836-57594837	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369992341	chr12:57594865-57594866	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs551393670	chr12:57594875-57594876	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138926827	chr12:57594876-57594877	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200178766	chr12:57594886-57594887	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs113506249	chr12:57594937-57594938	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs111522273	chr12:57594938-57594939	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11172124	chr12:57594955-57594956	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376325087	chr12:57594962-57594963	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200318678	chr12:57594963-57594964	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34949484	chr12:57594980-57594981	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377702676	chr12:57594981-57594982	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs540255780	chr12:57595021-57595022	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs555349459	chr12:57595027-57595028	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536537807	chr12:57595036-57595037	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs9669595	chr12:57595066-57595067	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79217894	chr12:57595132-57595133	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs77716450	chr12:57595134-57595135	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544117538	chr12:57595167-57595168	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562303850	chr12:57595187-57595188	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs36063890	chr12:57595191-57595192	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377480456	chr12:57595231-57595232	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs371036165	chr12:57595240-57595241	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200248643	chr12:57595242-57595243	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374181151	chr12:57595243-57595244	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113420952	chr12:57595278-57595279	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112761710	chr12:57595279-57595280	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs149436792	chr12:57595294-57595295	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs375520801	chr12:57595327-57595328	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs35617674	chr12:57595368-57595369	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35292422	chr12:57595433-57595434	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371165939	chr12:57595442-57595443	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528461213	chr12:57595510-57595511	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374962783	chr12:57595554-57595555	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs367951291	chr12:57595555-57595556	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs35696882	chr12:57595567-57595568	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138672668	chr12:57595585-57595586	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs142721778	chr12:57595605-57595606	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs543562619	chr12:57595623-57595624	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147378179	chr12:57595624-57595625	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546999643	chr12:57595648-57595649	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
15	chr12:57570600-57606800	Strong transcription	Osteobl	bone
16	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
19	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
21	chr12:57576800-57606600	Strong transcription	HepG2	liver
22	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
23	chr12:57577000-57600600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr12:57577000-57600600	Strong transcription	Brain Substantia Nigra	brain
25	chr12:57577000-57606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:57577000-57606400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:57577000-57606400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:57577000-57606400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr12:57577000-57606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:57577000-57606800	Strong transcription	Colonic Mucosa	Colon
31	chr12:57577000-57606800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:57577000-57606800	Strong transcription	Ovary	ovary
33	chr12:57577200-57605800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr12:57577200-57606000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:57577200-57606400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:57577200-57606400	Strong transcription	Aorta	Aorta
37	chr12:57577200-57606400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:57577200-57606400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:57577200-57606600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:57577200-57606800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:57577200-57606800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:57577200-57606800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:57577200-57606800	Weak transcription	A549	lung
44	chr12:57577400-57596200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:57577400-57606600	Strong transcription	Esophagus	oesophagus
46	chr12:57577600-57606800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:57577600-57607200	Weak transcription	NHEK	skin
48	chr12:57578800-57598400	Weak transcription	Thymus	Thymus
49	chr12:57581800-57604800	Strong transcription	HSMM	muscle
50	chr12:57582600-57607200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links