Variant report

Variant	nsv870899
Chromosome Location	chr1:47548974-47637999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:862)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:47619287-47619451	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr1:47557175-47557471	GM12878	blood:	n/a	n/a
3	BRCA1	chr1:47573638-47573660	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr1:47568628-47568873	K562	blood:	n/a	n/a
5	CBX3	chr1:47557092-47557451	K562	blood:	n/a	n/a
6	CBX3	chr1:47568589-47568957	K562	blood:	n/a	n/a
7	CBX3	chr1:47557058-47557538	K562	blood:	n/a	n/a
8	CEBPB	chr1:47555017-47555373	K562	blood:	n/a	n/a
9	CEBPB	chr1:47555191-47555271	K562	blood:	n/a	n/a
10	CEBPB	chr1:47626447-47626775	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:47572605-47572798	K562	blood:	n/a	chr1:47572667-47572680 chr1:47572667-47572678
12	CEBPB	chr1:47578909-47579275	H1-hESC	embryonic stem cell:	n/a	chr1:47579241-47579254
13	CEBPB	chr1:47572592-47572786	A549	lung:	n/a	chr1:47572667-47572680 chr1:47572667-47572678
14	CEBPB	chr1:47573574-47573810	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:47595786-47595954	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:47555441-47555554	Gliobla	brain:	n/a	n/a
17	CTCF	chr1:47565980-47566130	HAc	cerebellar:	n/a	n/a
18	CTCF	chr1:47570520-47570670	NHEK	skin:	n/a	n/a
19	CTCF	chr1:47557268-47557464	GM20000	blood:	n/a	n/a
20	CTCF	chr1:47557189-47557494	Gliobla	brain:	n/a	n/a
21	CTCF	chr1:47557420-47557570	AG09309	skin:	n/a	n/a
22	CTCF	chr1:47555010-47555462	A549	lung:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
23	CTCF	chr1:47609460-47609610	HRE	kidney:	n/a	n/a
24	CTCF	chr1:47612880-47613030	RPTEC	kidney:	n/a	n/a
25	CTCF	chr1:47570645-47570762	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:47609380-47609530	GM12871	blood:	n/a	n/a
27	CTCF	chr1:47555130-47555291	GM13976	blood:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
28	CTCF	chr1:47609395-47609666	Gliobla	brain:	n/a	n/a
29	CTCF	chr1:47555124-47555318	SK-N-SH_RA	brain:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
30	CTCF	chr1:47609390-47609663	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:47557420-47557570	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr1:47557320-47557592	HCT-116	colon:	n/a	n/a
33	CTCF	chr1:47609407-47609683	K562	blood:	n/a	n/a
34	CTCF	chr1:47557560-47557710	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr1:47609409-47609667	HepG2	liver:	n/a	n/a
36	CTCF	chr1:47609360-47609510	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr1:47555460-47555610	HPF	lung:	n/a	n/a
38	CTCF	chr1:47555147-47555268	ProgFib	skin:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
39	CTCF	chr1:47555140-47555290	GM12865	blood:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
40	CTCF	chr1:47555455-47555496	A549	lung:	n/a	n/a
41	CTCF	chr1:47612840-47612990	HepG2	liver:	n/a	n/a
42	CTCF	chr1:47632040-47632190	GM12868	blood:	n/a	n/a
43	CTCF	chr1:47557192-47557431	A549	lung:	n/a	n/a
44	CTCF	chr1:47566131-47566216	Fibrobl	skin:	n/a	n/a
45	CTCF	chr1:47609405-47609638	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr1:47556668-47556690	GM13977	blood:	n/a	n/a
47	CTCF	chr1:47570640-47570790	HepG2	liver:	n/a	n/a
48	CTCF	chr1:47632160-47632310	HepG2	liver:	n/a	n/a
49	CTCF	chr1:47555140-47555290	NHEK	skin:	n/a	chr1:47555195-47555211 chr1:47555194-47555212 chr1:47555189-47555210
50	CTCF	chr1:47609340-47609490	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47570265-47570315	NB4	blood:	n/a
2	chr1:47570265-47570315	HIPEpiC	eye:	n/a
3	chr1:47603010-47603060	Hela-S3	cervix:	n/a
4	chr1:47610822-47610872	ProgFib	skin:	n/a
5	chr1:47610822-47610872	GM12878	blood:	n/a
6	chr1:47610822-47610872	Hepatocyte	liver:	n/a
7	chr1:47603312-47603362	Caco-2	colon:	n/a
8	chr1:47610822-47610872	HMEC	breast:	n/a
9	chr1:47570265-47570315	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:47603010-47603060	HRPEpiC	eye:	n/a
11	chr1:47603010-47603060	BJ	skin:	n/a
12	chr1:47610822-47610872	RPTEC	kidney:	n/a
13	chr1:47570265-47570315	Caco-2	colon:	n/a
14	chr1:47610822-47610872	T-47D	breast:	n/a
15	chr1:47570265-47570315	AG09319	gingival:	n/a
16	chr1:47603312-47603362	HEK293	kidney:	embryo
17	chr1:47603312-47603362	GM06990	blood:	n/a
18	chr1:47603312-47603362	PrEC	prostate:	n/a
19	chr1:47603010-47603060	ovcar-3	ovarian:	n/a
20	chr1:47603010-47603060	PFSK-1	brain:	n/a
21	chr1:47570265-47570315	SKMC	muscle:	n/a
22	chr1:47603010-47603060	HRE	kidney:	n/a
23	chr1:47603010-47603060	MCF10A-Er-Src	breast:	n/a
24	chr1:47570265-47570315	PANC-1	pancreas:	n/a
25	chr1:47603312-47603362	HUVEC	blood vessel:	n/a
26	chr1:47603010-47603060	AG04450	lung:	fetal
27	chr1:47603312-47603362	U87	brain:	n/a
28	chr1:47603010-47603060	H1-hESC	embryonic stem cell:	embryo
29	chr1:47610822-47610872	IMR90	lung:	fetal
30	chr1:47603010-47603060	HCM	heart:	n/a
31	chr1:47610822-47610872	GM06990	blood:	n/a
32	chr1:47570265-47570315	PFSK-1	brain:	n/a
33	chr1:47570265-47570315	Hepatocyte	liver:	n/a
34	chr1:47570265-47570315	NH-A	brain:	n/a
35	chr1:47603010-47603060	GM12878	blood:	n/a
36	chr1:47603312-47603362	Jurkat	blood:	n/a
37	chr1:47603312-47603362	BJ	skin:	n/a
38	chr1:47603010-47603060	RPTEC	kidney:	n/a
39	chr1:47603312-47603362	SAEC	small airway:	n/a
40	chr1:47570265-47570315	ECC-1	luminal epithelium:	n/a
41	chr1:47610822-47610872	K562	blood:	n/a
42	chr1:47603010-47603060	T-47D	breast:	n/a
43	chr1:47603312-47603362	HCF	heart:	n/a
44	chr1:47603010-47603060	HL-60	blood:	n/a
45	chr1:47610822-47610872	HCPEpiC	choroid plexus:	n/a
46	chr1:47570265-47570315	HMEC	breast:	n/a
47	chr1:47610822-47610872	MCF-7	breast:	n/a
48	chr1:47610822-47610872	AG09319	gingival:	n/a
49	chr1:47570265-47570315	T-47D	breast:	n/a
50	chr1:47610822-47610872	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr1:47565566..47567754-chr1:47569230..47571813,3	K562	blood:
2	chr1:47626285..47627872-chr1:47968259..47970134,2	K562	blood:
3	chr1:47565566..47567754-chr1:47569230..47571813,3	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZK1IP1-6	chr1:47624507-47624615	NONHSAT003052
2	lnc-CYP4A22-5	chr1:47582322-47582404	NONHSAT003051
3	lnc-PDZK1IP1-5	chr1:47630182-47630515	NONHSAT003053
4	lnc-PDZK1IP1-5	chr1:47631256-47631592	NONHSAT003053
5	lnc-CYP4A22-5	chr1:47581111-47581265	NONHSAT003051
6	lnc-PDZK1IP1-4	chr1:47632037-47633802	ucscGeneNc_uc001crj_1
7	lnc-PDZK1IP1-6	chr1:47619187-47619402	NONHSAT003052
8	lnc-PDZK1IP1-2	chr1:47562325-47562849	ENSG00000225506
9	lnc-CYP4A22-5	chr1:47583438-47583736	NONHSAT003051

No data

Variant related genes	Relation type
MTND1P34	TF binding region
CYP4A22	TF binding region
CYP4Z1	TF binding region
MTND1P34	CpG island
CYP4A22	CpG island
CYP4Z1	CpG island

Extended variants
information (count: 3509 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3509 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150992808	chr1:47557624-47557625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74702725	chr1:47557630-47557631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144474016	chr1:47557656-47557657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2813851	chr1:47557676-47557677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550136175	chr1:47557698-47557699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2472729	chr1:47557712-47557713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146010378	chr1:47557721-47557722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370747951	chr1:47557789-47557790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535690896	chr1:47557791-47557792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2472728	chr1:47557792-47557793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569708988	chr1:47557857-47557858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181164345	chr1:47557863-47557864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539516040	chr1:47557872-47557873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116504637	chr1:47557933-47557934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372610819	chr1:47557971-47557972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377264800	chr1:47557984-47557985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534056395	chr1:47558020-47558021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112360784	chr1:47558068-47558069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554192816	chr1:47558153-47558154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376404682	chr1:47558154-47558155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370926715	chr1:47558158-47558159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562450524	chr1:47558242-47558243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186660183	chr1:47558299-47558300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541621842	chr1:47558308-47558309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191401435	chr1:47558333-47558334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570869377	chr1:47558347-47558348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527405071	chr1:47558397-47558398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182016888	chr1:47558419-47558420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200056350	chr1:47558455-47558456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564156130	chr1:47558459-47558460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556546896	chr1:47558467-47558468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531363484	chr1:47558719-47558720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549510411	chr1:47558722-47558723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4411169	chr1:47558868-47558869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568385847	chr1:47558978-47558979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376019162	chr1:47558993-47558994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535350593	chr1:47559016-47559017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547588547	chr1:47559032-47559033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565501953	chr1:47559130-47559131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145534614	chr1:47559131-47559132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147729317	chr1:47559142-47559143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569811724	chr1:47559148-47559149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537087491	chr1:47559206-47559207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555435334	chr1:47559209-47559210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371654874	chr1:47559252-47559253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148378847	chr1:47559260-47559261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372210194	chr1:47559314-47559315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112783955	chr1:47559327-47559328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578233883	chr1:47559331-47559332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545597463	chr1:47559354-47559355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Squamous cell cancer	19001599	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47557600-47557800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:47557800-47573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:47567400-47570200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:47570200-47570600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:47570200-47570800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:47570200-47570800	Enhancers	NHEK	skin
7	chr1:47570400-47570600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:47570400-47571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:47570400-47571000	Enhancers	HMEC	breast
10	chr1:47570600-47573600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:47570800-47572400	Weak transcription	NHEK	skin
12	chr1:47570800-47573200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:47571000-47572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:47571000-47572200	Weak transcription	HMEC	breast
15	chr1:47572000-47572200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:47572000-47573400	Enhancers	Liver	Liver
17	chr1:47572200-47572400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:47572200-47572400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:47572200-47572400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:47572200-47573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:47572200-47573600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:47572200-47573600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:47572200-47573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:47572200-47574400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:47572200-47574800	Enhancers	HMEC	breast
26	chr1:47572400-47572600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:47572400-47572800	Enhancers	NHEK	skin
28	chr1:47572400-47573000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:47572400-47573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:47572400-47573000	Enhancers	Hela-S3	cervix
31	chr1:47572600-47572800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:47572800-47573400	Enhancers	HUVEC	blood vessel
33	chr1:47572800-47573600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:47572800-47573600	Flanking Active TSS	NHEK	skin
35	chr1:47573000-47573200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:47573000-47573200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:47573000-47573600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:47573000-47573600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:47573000-47573600	Flanking Active TSS	Hela-S3	cervix
40	chr1:47573200-47573600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:47573200-47574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:47573200-47578000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:47573400-47573800	Flanking Active TSS	HUVEC	blood vessel
44	chr1:47573600-47573800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:47573600-47574000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:47573600-47574400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:47573600-47574400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:47573600-47574600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:47573600-47575600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:47573600-47575600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links