Variant report

Variant	esv34144
Chromosome Location	chr1:80321018-80572745
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	BACH1	chr1:80449701-80449938	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:80520012-80520093	K562	blood:	n/a	n/a
3	BACH1	chr1:80515843-80516159	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:80548886-80548916	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:80515876-80516018	K562	blood:	n/a	n/a
6	BACH1	chr1:80549615-80549808	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:80519821-80520165	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:80368134-80368482	Hela-S3	cervix:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
9	CEBPB	chr1:80368190-80368467	ECC-1	luminal epithelium:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
10	CEBPB	chr1:80555874-80556123	HepG2	liver:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
11	CEBPB	chr1:80363822-80364163	IMR90	lung:	n/a	chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363998-80364009 chr1:80363997-80364008
12	CEBPB	chr1:80368119-80368499	IMR90	lung:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
13	CEBPB	chr1:80368117-80368491	K562	blood:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
14	CEBPB	chr1:80572688-80572902	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:80368120-80368475	HepG2	liver:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
16	CEBPB	chr1:80368127-80368488	A549	lung:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
17	CEBPB	chr1:80331672-80331958	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:80344218-80344283	HepG2	liver:	n/a	chr1:80344249-80344260
19	CEBPB	chr1:80365601-80366058	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:80325230-80325605	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:80368149-80368463	H1-hESC	embryonic stem cell:	n/a	chr1:80368297-80368314 chr1:80368302-80368311 chr1:80368302-80368311 chr1:80368300-80368311 chr1:80368300-80368313 chr1:80368300-80368313 chr1:80368302-80368311
22	CEBPB	chr1:80445774-80446053	IMR90	lung:	n/a	chr1:80445872-80445881 chr1:80445872-80445881
23	CEBPB	chr1:80363833-80364134	HepG2	liver:	n/a	chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363999-80364008 chr1:80363998-80364009 chr1:80363997-80364008
24	CEBPB	chr1:80548985-80549185	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:80555874-80556156	IMR90	lung:	n/a	chr1:80555985-80555998 chr1:80555986-80555997
26	CTCF	chr1:80340220-80340370	HCM	heart:	n/a	n/a
27	CTCF	chr1:80340100-80340250	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr1:80349780-80349930	GM12873	blood:	n/a	n/a
29	CTCF	chr1:80461600-80461750	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:80448040-80448190	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr1:80365780-80365930	HCFaa	heart:	n/a	n/a
32	CTCF	chr1:80525500-80525650	HEK293	kidney:	n/a	n/a
33	CTCF	chr1:80421827-80421862	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:80461734-80461820	Hela-S3	cervix:	n/a	chr1:80461763-80461772
35	CTCF	chr1:80349760-80349910	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr1:80440420-80440570	GM12872	blood:	n/a	n/a
37	CTCF	chr1:80421740-80421890	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr1:80365720-80365870	HMF	breast:	n/a	n/a
39	CTCF	chr1:80365700-80365850	NHLF	lung:	n/a	n/a
40	CTCF	chr1:80461760-80461910	AG04449	skin:	n/a	chr1:80461763-80461772
41	CTCF	chr1:80365764-80365861	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr1:80461720-80461870	HBMEC	blood vessel:	n/a	chr1:80461763-80461772
43	CTCF	chr1:80365680-80365830	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr1:80349728-80349797	ProgFib	skin:	n/a	n/a
45	CTCF	chr1:80340020-80340170	RPTEC	kidney:	n/a	n/a
46	CTCF	chr1:80539526-80539570	GM20000	blood:	n/a	n/a
47	CTCF	chr1:80492960-80493014	GM13976	blood:	n/a	n/a
48	CTCF	chr1:80448140-80448290	BJ	skin:	n/a	n/a
49	CTCF	chr1:80548693-80548790	GM20000	blood:	n/a	n/a
50	CTCF	chr1:80421720-80421870	AG10803	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:80517098-80517148	IMR90	lung:	fetal
2	chr1:80517098-80517148	IMR90	lung:	fetal
3	chr1:80516591-80516641	AoSMC	blood vessel:	n/a
4	chr1:80447732-80447782	HL-60	blood:	n/a
5	chr1:80516591-80516641	ECC-1	luminal epithelium:	n/a
6	chr1:80516591-80516641	HRE	kidney:	n/a
7	chr1:80366403-80366453	RPTEC	kidney:	n/a
8	chr1:80516138-80516188	K562	blood:	n/a
9	chr1:80517010-80517060	NHBE	bronchial:	n/a
10	chr1:80517098-80517148	SK-N-SH	brain:	n/a
11	chr1:80366403-80366453	BJ	skin:	n/a
12	chr1:80516591-80516641	A549	lung:	n/a
13	chr1:80516138-80516188	HAEpiC	amniotic membrane:	n/a
14	chr1:80516486-80516536	NH-A	brain:	n/a
15	chr1:80447732-80447782	HIPEpiC	eye:	n/a
16	chr1:80366403-80366453	ECC-1	luminal epithelium:	n/a
17	chr1:80517010-80517060	SK-N-MC	brain:	n/a
18	chr1:80447732-80447782	ProgFib	skin:	n/a
19	chr1:80517010-80517060	NHDF-neo	bronchial:	n/a
20	chr1:80366403-80366453	HMEC	breast:	n/a
21	chr1:80516486-80516536	GM06990	blood:	n/a
22	chr1:80517098-80517148	SK-N-SH_RA	brain:	n/a
23	chr1:80517010-80517060	AG09309	skin:	n/a
24	chr1:80366403-80366453	Hepatocyte	liver:	n/a
25	chr1:80516591-80516641	HUVEC	blood vessel:	n/a
26	chr1:80517098-80517148	AoSMC	blood vessel:	n/a
27	chr1:80517098-80517148	MCF10A-Er-Src	breast:	n/a
28	chr1:80447732-80447782	HCT-116	colon:	n/a
29	chr1:80366403-80366453	PFSK-1	brain:	n/a
30	chr1:80516486-80516536	HEK293	kidney:	embryo
31	chr1:80516591-80516641	SK-N-SH	brain:	n/a
32	chr1:80366403-80366453	U87	brain:	n/a
33	chr1:80517098-80517148	HNPCEpiC	eye:	n/a
34	chr1:80517010-80517060	HNPCEpiC	eye:	n/a
35	chr1:80517098-80517148	HL-60	blood:	n/a
36	chr1:80516486-80516536	HMEC	breast:	n/a
37	chr1:80516591-80516641	H1-hESC	embryonic stem cell:	embryo
38	chr1:80517010-80517060	Hepatocyte	liver:	n/a
39	chr1:80366403-80366453	HRE	kidney:	n/a
40	chr1:80516486-80516536	HL-60	blood:	n/a
41	chr1:80516486-80516536	SK-N-SH_RA	brain:	n/a
42	chr1:80447732-80447782	HRPEpiC	eye:	n/a
43	chr1:80516591-80516641	HRPEpiC	eye:	n/a
44	chr1:80516591-80516641	HCM	heart:	n/a
45	chr1:80366403-80366453	MCF10A-Er-Src	breast:	n/a
46	chr1:80517010-80517060	SK-N-SH	brain:	n/a
47	chr1:80516591-80516641	AG09309	skin:	n/a
48	chr1:80516591-80516641	Caco-2	colon:	n/a
49	chr1:80517098-80517148	BE2_C	brain:	n/a
50	chr1:80516486-80516536	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
2	chr1:80330992..80332492-chr17:59388398..59390197,2	MCF-7	breast:
3	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
4	chr1:80380861..80381772-chr1:80785065..80785571,2	K562	blood:
5	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
6	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
7	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
8	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
9	chr1:80568623..80571326-chr1:80577304..80579523,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-11	chr1:80557788-80558922	NONHSAT004104

Variant related genes	Relation type
ENSG00000235756	TF binding region
ENSG00000235756	CpG island

Extended variants
information (count: 3411 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3411 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541872196	chr1:80323425-80323426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567718126	chr1:80323451-80323452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561429256	chr1:80323453-80323454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536325212	chr1:80323467-80323468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564631238	chr1:80323469-80323470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141396100	chr1:80323484-80323485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550120449	chr1:80323493-80323494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562340005	chr1:80323510-80323511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550917175	chr1:80323535-80323536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529486848	chr1:80323573-80323574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59222060	chr1:80323579-80323580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370022917	chr1:80323585-80323586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534552936	chr1:80323628-80323629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78618851	chr1:80323629-80323630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539850550	chr1:80323630-80323631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370675160	chr1:80323645-80323646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569868054	chr1:80323690-80323691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375570748	chr1:80323692-80323693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145648126	chr1:80323695-80323696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555353530	chr1:80323753-80323754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573827568	chr1:80323769-80323770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534502320	chr1:80323789-80323790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181765871	chr1:80323800-80323801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368572368	chr1:80323854-80323855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577274954	chr1:80323878-80323879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186793224	chr1:80323939-80323940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556879025	chr1:80323942-80323943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575113504	chr1:80323982-80323983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550157744	chr1:80323990-80323991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577868575	chr1:80323995-80323996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116470505	chr1:80324056-80324057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562239791	chr1:80324059-80324060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138292804	chr1:80324069-80324070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541596234	chr1:80324070-80324071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117044825	chr1:80324130-80324131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563159868	chr1:80324163-80324164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72935770	chr1:80324164-80324165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115924267	chr1:80324194-80324195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570062193	chr1:80324195-80324196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567599740	chr1:80324216-80324217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558681836	chr1:80324259-80324260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549301090	chr1:80324270-80324271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75387610	chr1:80324302-80324303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114849494	chr1:80324306-80324307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552724670	chr1:80324328-80324329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1774149	chr1:80324334-80324335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142886937	chr1:80324348-80324349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538377967	chr1:80324358-80324359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72506869	chr1:80324376-80324377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200939354	chr1:80324377-80324378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80323400-80324600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:80323800-80324200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:80324000-80327000	Enhancers	HUVEC	blood vessel
4	chr1:80324200-80324600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:80324600-80324800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:80324600-80324800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:80324600-80324800	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr1:80324600-80325000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:80324600-80325000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:80324600-80325200	Enhancers	Gastric	stomach
11	chr1:80324600-80325200	Enhancers	Ovary	ovary
12	chr1:80324600-80325800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:80324800-80325200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:80324800-80325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:80324800-80325200	Enhancers	HMEC	breast
16	chr1:80324800-80325600	Enhancers	NHLF	lung
17	chr1:80324800-80325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:80324800-80325800	Enhancers	Stomach Mucosa	stomach
19	chr1:80324800-80326000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:80325000-80325200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:80325000-80325200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:80325000-80325400	Enhancers	NH-A	brain
23	chr1:80325000-80325400	Enhancers	NHEK	skin
24	chr1:80325000-80325600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:80325000-80325600	Enhancers	A549	lung
26	chr1:80325000-80326000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:80325200-80325800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:80325200-80326000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:80325600-80326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:80325800-80326400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:80339000-80340200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:80339400-80340200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:80341200-80341600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:80361400-80362400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:80361600-80362200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:80362400-80365600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:80365200-80366000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:80365200-80366600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:80365200-80366600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:80365200-80366600	Enhancers	Osteobl	bone
41	chr1:80365200-80366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:80365200-80366800	Enhancers	NH-A	brain
43	chr1:80365200-80366800	Enhancers	NHDF-Ad	bronchial
44	chr1:80365200-80367000	Enhancers	NHLF	lung
45	chr1:80365400-80365600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:80365400-80366000	Enhancers	HUVEC	blood vessel
47	chr1:80365400-80366400	Enhancers	HMEC	breast
48	chr1:80365400-80366600	Enhancers	HSMM	muscle
49	chr1:80365600-80366200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:80365600-80369600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links