Variant report

Variant	nsv461650
Chromosome Location	chr1:62542717-62657530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1445)
CpG islands
(count:308)
Chromatin interactive
region (count:12)
LncRNA
region (count:7)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:62641191-62641580	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:62548461-62548814	K562	blood:	n/a	n/a
3	ARID3A	chr1:62548468-62548749	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:62601544-62601684	HepG2	liver:	n/a	n/a
5	ATF1	chr1:62548437-62548742	K562	blood:	n/a	n/a
6	ATF2	chr1:62587863-62588301	GM12878	blood:	n/a	n/a
7	ATF2	chr1:62642519-62643026	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:62642428-62643041	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:62596831-62597090	K562	blood:	n/a	n/a
10	BACH1	chr1:62641305-62641504	K562	blood:	n/a	n/a
11	BATF	chr1:62625827-62626008	GM12878	blood:	n/a	chr1:62625902-62625910
12	BATF	chr1:62587955-62588174	GM12878	blood:	n/a	chr1:62588072-62588083
13	BATF	chr1:62587899-62588204	GM12878	blood:	n/a	chr1:62588072-62588083
14	BCL11A	chr1:62647325-62647481	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCLAF1	chr1:62625608-62625958	GM12878	blood:	n/a	n/a
16	BCLAF1	chr1:62587840-62588269	GM12878	blood:	n/a	chr1:62588076-62588085 chr1:62588075-62588084
17	BHLHE40	chr1:62549947-62550305	K562	blood:	n/a	n/a
18	BHLHE40	chr1:62548575-62548576	K562	blood:	n/a	n/a
19	BRCA1	chr1:62555359-62555453	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:62603698-62604039	A549	lung:	n/a	chr1:62603874-62603885
21	CEBPB	chr1:62645928-62645973	A549	lung:	n/a	n/a
22	CEBPB	chr1:62603724-62604019	Hela-S3	cervix:	n/a	chr1:62603874-62603885
23	CEBPB	chr1:62645947-62646017	H1-hESC	embryonic stem cell:	n/a	chr1:62645964-62645975
24	CEBPB	chr1:62603714-62604049	K562	blood:	n/a	chr1:62603874-62603885
25	CEBPB	chr1:62603704-62604058	IMR90	lung:	n/a	chr1:62603874-62603885
26	CEBPB	chr1:62631811-62631998	H1-hESC	embryonic stem cell:	n/a	chr1:62631907-62631918
27	CEBPB	chr1:62638361-62638659	HepG2	liver:	n/a	chr1:62638503-62638514
28	CEBPB	chr1:62603779-62604027	H1-hESC	embryonic stem cell:	n/a	chr1:62603874-62603885
29	CEBPB	chr1:62636329-62636517	HepG2	liver:	n/a	chr1:62636373-62636384
30	CEBPB	chr1:62638421-62638566	K562	blood:	n/a	chr1:62638503-62638514
31	CEBPB	chr1:62603700-62604053	HepG2	liver:	n/a	chr1:62603874-62603885
32	CEBPB	chr1:62646350-62646662	MCF-7	breast:	n/a	n/a
33	CEBPB	chr1:62648992-62649221	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr1:62645909-62646124	HepG2	liver:	n/a	chr1:62645964-62645975
35	CEBPB	chr1:62548571-62548664	K562	blood:	n/a	n/a
36	CEBPB	chr1:62645890-62646122	IMR90	lung:	n/a	chr1:62645964-62645975
37	CEBPB	chr1:62631801-62631987	HepG2	liver:	n/a	chr1:62631907-62631918
38	CEBPB	chr1:62645754-62646040	K562	blood:	n/a	chr1:62645964-62645975
39	CEBPB	chr1:62638999-62639151	HepG2	liver:	n/a	chr1:62639085-62639096
40	CEBPD	chr1:62544578-62544954	K562	blood:	n/a	n/a
41	CHD2	chr1:62601467-62601706	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:62597300-62597371	Medullo	brain:	n/a	n/a
43	CTCF	chr1:62599240-62599390	GM12865	blood:	n/a	n/a
44	CTCF	chr1:62641305-62641530	SK-N-SH_RA	brain:	n/a	chr1:62641429-62641442 chr1:62641428-62641449 chr1:62641427-62641443 chr1:62641426-62641444
45	CTCF	chr1:62596767-62597198	GM12878	blood:	n/a	chr1:62596957-62596978 chr1:62596962-62596980
46	CTCF	chr1:62610100-62610250	GM12801	blood:	n/a	n/a
47	CTCF	chr1:62596900-62597050	HCT-116	colon:	n/a	chr1:62596957-62596978 chr1:62596962-62596980
48	CTCF	chr1:62609923-62610306	H1-hESC	embryonic stem cell:	n/a	chr1:62610086-62610107 chr1:62610091-62610109 chr1:62610092-62610108
49	CTCF	chr1:62609903-62610301	IMR90	lung:	n/a	chr1:62610086-62610107 chr1:62610091-62610109 chr1:62610092-62610108
50	CTCF	chr1:62610020-62610170	RPTEC	kidney:	n/a	chr1:62610086-62610107 chr1:62610091-62610109 chr1:62610092-62610108

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62594624-62594674	SK-N-SH_RA	brain:	n/a
2	chr1:62594624-62594674	Hela-S3	cervix:	n/a
3	chr1:62594603-62594653	AG04449	skin:	fetal
4	chr1:62594624-62594674	SK-N-SH_RA	brain:	n/a
5	chr1:62594624-62594674	Hela-S3	cervix:	n/a
6	chr1:62594603-62594653	AG04449	skin:	fetal
7	chr1:62594568-62594618	MCF-7	breast:	n/a
8	chr1:62607877-62607927	AG04450	lung:	fetal
9	chr1:62594603-62594653	A549	lung:	n/a
10	chr1:62594603-62594653	HRCEpiC	kidney:	n/a
11	chr1:62607877-62607927	A549	lung:	n/a
12	chr1:62607877-62607927	ECC-1	luminal epithelium:	n/a
13	chr1:62596817-62596867	T-47D	breast:	n/a
14	chr1:62594603-62594653	PFSK-1	brain:	n/a
15	chr1:62596817-62596867	AG09319	gingival:	n/a
16	chr1:62594603-62594653	SK-N-SH	brain:	n/a
17	chr1:62596817-62596867	GM12891	blood:	n/a
18	chr1:62594624-62594674	NB4	blood:	n/a
19	chr1:62607877-62607927	SAEC	small airway:	n/a
20	chr1:62594603-62594653	HepG2	liver:	n/a
21	chr1:62607877-62607927	HCF	heart:	n/a
22	chr1:62596817-62596867	LNCaP	prostate:	n/a
23	chr1:62596817-62596867	HRPEpiC	eye:	n/a
24	chr1:62607877-62607927	HepG2	liver:	n/a
25	chr1:62607877-62607927	HCPEpiC	choroid plexus:	n/a
26	chr1:62594603-62594653	GM06990	blood:	n/a
27	chr1:62594603-62594653	H1-hESC	embryonic stem cell:	embryo
28	chr1:62594603-62594653	SK-N-MC	brain:	n/a
29	chr1:62594568-62594618	Hepatocyte	liver:	n/a
30	chr1:62594624-62594674	SK-N-SH	brain:	n/a
31	chr1:62594624-62594674	Hepatocyte	liver:	n/a
32	chr1:62594568-62594618	PrEC	prostate:	n/a
33	chr1:62607877-62607927	NHBE	bronchial:	n/a
34	chr1:62594568-62594618	LNCaP	prostate:	n/a
35	chr1:62594603-62594653	HIPEpiC	eye:	n/a
36	chr1:62596817-62596867	BJ	skin:	n/a
37	chr1:62607877-62607927	GM12891	blood:	n/a
38	chr1:62596817-62596867	GM19239	blood:	n/a
39	chr1:62596817-62596867	NT2-D1	testis:	n/a
40	chr1:62594603-62594653	HCT-116	colon:	n/a
41	chr1:62594624-62594674	MCF10A-Er-Src	breast:	n/a
42	chr1:62594603-62594653	PANC-1	pancreas:	n/a
43	chr1:62596817-62596867	SK-N-SH	brain:	n/a
44	chr1:62607877-62607927	NB4	blood:	n/a
45	chr1:62594624-62594674	AoSMC	blood vessel:	n/a
46	chr1:62594624-62594674	AG09309	skin:	n/a
47	chr1:62594603-62594653	MCF-7	breast:	n/a
48	chr1:62596817-62596867	PANC-1	pancreas:	n/a
49	chr1:62594568-62594618	SK-N-SH	brain:	n/a
50	chr1:62596817-62596867	NHDF-neo	bronchial:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62644591..62647445-chr1:62694346..62697285,2	MCF-7	breast:
2	chr1:62548148..62549052-chr1:62609619..62610149,3	K562	blood:
3	chr1:62560418..62562159-chr1:62563244..62565670,2	MCF-7	breast:
4	chr1:62548126..62548791-chr1:62596911..62597437,2	MCF-7	breast:
5	chr1:62548148..62549052-chr1:62609619..62610149,3	K562	blood:
6	chr1:62641108..62641785-chr1:62872814..62873759,3	K562	blood:
7	chr1:62641022..62641912-chr1:63211839..63212852,4	K562	blood:
8	chr1:62641185..62641957-chr9:140067717..140068217,2	MCF-7	breast:
9	chr1:62548126..62548791-chr1:62596911..62597437,2	MCF-7	breast:
10	chr1:62640856..62641941-chr1:62872775..62873607,4	MCF-7	breast:
11	chr1:62560418..62562159-chr1:62563244..62565670,2	MCF-7	breast:
12	chr1:62640932..62641855-chr1:62872570..62873690,7	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KANK4-1	chr1:62584553-62584681	ENSG00000225771.1
2	lnc-L1TD1-2	chr1:62655541-62655625	NONHSAT003627
3	lnc-KANK4-1	chr1:62580420-62580719	ENSG00000225771.1
4	lnc-INADL-3	chr1:62634103-62634240	NONHSAT003626
5	lnc-L1TD1-2	chr1:62654803-62655175	NONHSAT003627
6	lnc-L1TD1-1	chr1:62656194-62656598	NONHSAT003628
7	lnc-INADL-3	chr1:62633088-62633800	NONHSAT003626

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3116	chr1:62544502-62544523	MIMAT0014978
hsa-miR-3116	chr1:62544466-62544487	MIMAT0014978_1

No data

Variant related genes	Relation type
INADL	TF binding region
RPS15AP7	TF binding region
L1TD1	TF binding region
MIR3116-1	TF binding region
PIGPP2	TF binding region
INADL	CpG island
RPS15AP7	CpG island
L1TD1	CpG island
MIR3116-1	CpG island
PIGPP2	CpG island

Extended variants
information (count: 4771 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4771 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6670849	chr1:62542717-62542718	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564740792	chr1:62542725-62542726	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554868837	chr1:62542748-62542749	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188024072	chr1:62542808-62542809	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs193017640	chr1:62542823-62542824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139530367	chr1:62542885-62542886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185698055	chr1:62542938-62542939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534019361	chr1:62543016-62543017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541386585	chr1:62543107-62543108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58987719	chr1:62543159-62543160	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530153019	chr1:62543164-62543165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369512268	chr1:62543222-62543223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6673918	chr1:62543223-62543224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146030788	chr1:62543227-62543228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531527936	chr1:62543234-62543235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549721130	chr1:62543242-62543243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139916313	chr1:62543255-62543256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1885828	chr1:62543279-62543280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538378565	chr1:62543296-62543297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1885829	chr1:62543333-62543334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79435628	chr1:62543357-62543358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374186578	chr1:62543359-62543360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200440917	chr1:62543360-62543361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10630161	chr1:62543361-62543362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7550604	chr1:62543364-62543365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11439364	chr1:62543374-62543375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7528438	chr1:62543375-62543376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553864226	chr1:62543377-62543378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538024297	chr1:62543419-62543420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376764721	chr1:62543567-62543568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565313150	chr1:62543587-62543588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535887431	chr1:62543593-62543594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368243064	chr1:62543649-62543650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149729082	chr1:62543696-62543697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537604310	chr1:62543698-62543699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558905366	chr1:62543744-62543745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546621382	chr1:62543749-62543750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145502495	chr1:62543766-62543767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114344709	chr1:62543836-62543837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148422473	chr1:62543976-62543977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142572603	chr1:62543999-62544000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542284902	chr1:62544009-62544010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561128159	chr1:62544111-62544112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147552205	chr1:62544112-62544113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373340761	chr1:62544158-62544159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550741610	chr1:62544218-62544219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559464883	chr1:62544425-62544426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564949972	chr1:62544441-62544442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374995682	chr1:62544470-62544471	Weak transcription Strong transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
50	rs371192161	chr1:62544484-62544485	Weak transcription Strong transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:62495200-62544800	Weak transcription	Liver	Liver
5	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
6	chr1:62515400-62552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:62519000-62550000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:62519000-62550000	Weak transcription	Pancreas	Pancrea
9	chr1:62519000-62552000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:62521800-62546200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:62532400-62552400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:62532600-62544600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:62532600-62545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:62532600-62548800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:62532600-62550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:62532600-62550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:62532600-62552400	Weak transcription	Esophagus	oesophagus
18	chr1:62532600-62557400	Weak transcription	Spleen	Spleen
19	chr1:62532600-62568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:62532600-62569200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:62532600-62587600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:62532800-62545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:62532800-62552800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:62532800-62569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:62533400-62550000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:62534400-62545200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:62534400-62555000	Weak transcription	Ovary	ovary
28	chr1:62534400-62555400	Weak transcription	Left Ventricle	heart
29	chr1:62536000-62554400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:62536200-62551000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:62536800-62557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:62536800-62566000	Weak transcription	Gastric	stomach
34	chr1:62539200-62544800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:62541600-62563000	Weak transcription	Lung	lung
36	chr1:62541800-62544600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:62542000-62543200	Enhancers	Brain Hippocampus Middle	brain
38	chr1:62542000-62547200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:62542200-62543000	Enhancers	Brain Substantia Nigra	brain
40	chr1:62542200-62543800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:62542400-62542800	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:62542400-62544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:62542400-62550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:62542400-62586800	Weak transcription	NHEK	skin
45	chr1:62542400-62587400	Weak transcription	HMEC	breast
46	chr1:62542600-62543600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:62542600-62555400	Weak transcription	Fetal Heart	heart
48	chr1:62542600-62563000	Weak transcription	Aorta	Aorta
49	chr1:62542800-62543800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:62543000-62543400	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links