Variant report

Variant	esv1850052
Chromosome Location	chr5:70674583-70745387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:70684142-70684593	K562	blood:	n/a	n/a
2	ARID3A	chr5:70680601-70681425	K562	blood:	n/a	n/a
3	ATF1	chr5:70681067-70681385	K562	blood:	n/a	n/a
4	ATF1	chr5:70684123-70684476	K562	blood:	n/a	n/a
5	ATF3	chr5:70681028-70681425	K562	blood:	n/a	n/a
6	ATF3	chr5:70684188-70684378	K562	blood:	n/a	n/a
7	ATF3	chr5:70684044-70684532	K562	blood:	n/a	n/a
8	BHLHE40	chr5:70681145-70681372	K562	blood:	n/a	n/a
9	BHLHE40	chr5:70684143-70684361	K562	blood:	n/a	n/a
10	BHLHE40	chr5:70743342-70743354	K562	blood:	n/a	n/a
11	CBX3	chr5:70681091-70681532	K562	blood:	n/a	n/a
12	CCNT2	chr5:70681162-70681370	K562	blood:	n/a	n/a
13	CEBPB	chr5:70680047-70680298	Hela-S3	cervix:	n/a	chr5:70680207-70680218
14	CEBPB	chr5:70743188-70743385	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:70681020-70681421	K562	blood:	n/a	n/a
16	CEBPB	chr5:70680010-70680377	K562	blood:	n/a	chr5:70680207-70680218
17	CEBPB	chr5:70681033-70681389	K562	blood:	n/a	n/a
18	CEBPB	chr5:70683919-70684546	K562	blood:	n/a	chr5:70684074-70684085 chr5:70683969-70683982
19	CEBPB	chr5:70684002-70684402	K562	blood:	n/a	chr5:70684074-70684085
20	CEBPB	chr5:70684020-70684344	A549	lung:	n/a	chr5:70684074-70684085
21	CEBPB	chr5:70711583-70711773	HepG2	liver:	n/a	chr5:70711699-70711710
22	CEBPB	chr5:70680058-70680274	HepG2	liver:	n/a	chr5:70680207-70680218
23	CEBPB	chr5:70711663-70711773	K562	blood:	n/a	chr5:70711699-70711710
24	CEBPB	chr5:70680044-70680325	K562	blood:	n/a	chr5:70680207-70680218
25	CEBPB	chr5:70683982-70684232	HepG2	liver:	n/a	chr5:70684074-70684085
26	CEBPB	chr5:70711597-70711864	H1-hESC	embryonic stem cell:	n/a	chr5:70711699-70711710
27	CEBPB	chr5:70684029-70684323	Hela-S3	cervix:	n/a	chr5:70684074-70684085
28	CEBPB	chr5:70680937-70681529	K562	blood:	n/a	n/a
29	CEBPB	chr5:70705347-70705398	K562	blood:	n/a	n/a
30	CEBPB	chr5:70681065-70681367	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr5:70711655-70711828	Hela-S3	cervix:	n/a	chr5:70711699-70711710
32	CEBPB	chr5:70683952-70684467	K562	blood:	n/a	chr5:70684074-70684085 chr5:70683969-70683982
33	CEBPB	chr5:70683968-70684224	IMR90	lung:	n/a	chr5:70684074-70684085 chr5:70683969-70683982
34	CEBPD	chr5:70680467-70681533	K562	blood:	n/a	n/a
35	CEBPD	chr5:70681041-70681482	K562	blood:	n/a	n/a
36	CEBPD	chr5:70683932-70684625	K562	blood:	n/a	n/a
37	CTCF	chr5:70743148-70743391	GM13976	blood:	n/a	n/a
38	CTCF	chr5:70743028-70743494	A549	lung:	n/a	n/a
39	CTCF	chr5:70675168-70675250	GM13976	blood:	n/a	n/a
40	CTCF	chr5:70743100-70743250	GM12871	blood:	n/a	n/a
41	CTCF	chr5:70743114-70743303	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:70743200-70743350	HMF	breast:	n/a	n/a
43	CTCF	chr5:70743200-70743350	Caco-2	colon:	n/a	n/a
44	CTCF	chr5:70743100-70743250	HCT-116	colon:	n/a	n/a
45	CTCF	chr5:70743171-70743341	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr5:70743088-70743419	A549	lung:	n/a	n/a
47	CTCF	chr5:70743040-70743412	K562	blood:	n/a	n/a
48	CTCF	chr5:70743132-70743390	Lung_OC	lung:	n/a	n/a
49	CTCF	chr5:70743200-70743350	HCFaa	heart:	n/a	n/a
50	CTCF	chr5:70743100-70743250	AG04450	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70742551-70742601	SK-N-SH	brain:	n/a
2	chr5:70742893-70742943	BJ	skin:	n/a
3	chr5:70742893-70742943	Hela-S3	cervix:	n/a
4	chr5:70741802-70741852	HRE	kidney:	n/a
5	chr5:70741802-70741852	GM12892	blood:	n/a
6	chr5:70742893-70742943	Caco-2	colon:	n/a
7	chr5:70742551-70742601	MCF-7	breast:	n/a
8	chr5:70741802-70741852	AoSMC	blood vessel:	n/a
9	chr5:70742551-70742601	NB4	blood:	n/a
10	chr5:70741802-70741852	HRCEpiC	kidney:	n/a
11	chr5:70742551-70742601	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:70742893-70742943	K562	blood:	n/a
13	chr5:70741802-70741852	AG09309	skin:	n/a
14	chr5:70741802-70741852	SK-N-SH_RA	brain:	n/a
15	chr5:70741802-70741852	ECC-1	luminal epithelium:	n/a
16	chr5:70742893-70742943	T-47D	breast:	n/a
17	chr5:70741802-70741852	PANC-1	pancreas:	n/a
18	chr5:70742893-70742943	ovcar-3	ovarian:	n/a
19	chr5:70741802-70741852	AG04450	lung:	fetal
20	chr5:70741802-70741852	SKMC	muscle:	n/a
21	chr5:70742551-70742601	PANC-1	pancreas:	n/a
22	chr5:70742551-70742601	NHBE	bronchial:	n/a
23	chr5:70741802-70741852	HCM	heart:	n/a
24	chr5:70742893-70742943	SK-N-SH	brain:	n/a
25	chr5:70742551-70742601	HRE	kidney:	n/a
26	chr5:70742893-70742943	GM12892	blood:	n/a
27	chr5:70742551-70742601	AG09309	skin:	n/a
28	chr5:70742893-70742943	HEK293	kidney:	embryo
29	chr5:70742551-70742601	NH-A	brain:	n/a
30	chr5:70742893-70742943	HCT-116	colon:	n/a
31	chr5:70742893-70742943	HIPEpiC	eye:	n/a
32	chr5:70742893-70742943	AoSMC	blood vessel:	n/a
33	chr5:70741802-70741852	HPAEpiC	pulmonary alveolar:	n/a
34	chr5:70742551-70742601	RPTEC	kidney:	n/a
35	chr5:70742551-70742601	CMK	blood:	n/a
36	chr5:70741802-70741852	GM06990	blood:	n/a
37	chr5:70742551-70742601	K562	blood:	n/a
38	chr5:70741802-70741852	BJ	skin:	n/a
39	chr5:70741802-70741852	AG04449	skin:	fetal
40	chr5:70741802-70741852	K562	blood:	n/a
41	chr5:70742893-70742943	MCF10A-Er-Src	breast:	n/a
42	chr5:70741802-70741852	GM12878	blood:	n/a
43	chr5:70742551-70742601	ProgFib	skin:	n/a
44	chr5:70741802-70741852	NH-A	brain:	n/a
45	chr5:70742893-70742943	GM06990	blood:	n/a
46	chr5:70742893-70742943	HNPCEpiC	eye:	n/a
47	chr5:70741802-70741852	U87	brain:	n/a
48	chr5:70741802-70741852	CMK	blood:	n/a
49	chr5:70741802-70741852	HAEpiC	amniotic membrane:	n/a
50	chr5:70742551-70742601	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70742035..70743794-chr5:70750287..70752992,2	MCF-7	breast:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BDP1-3	chr5:70716917-70717016	NONHSAT102024
2	lnc-BDP1-4	chr5:70681123-70681260	NONHSAT102016
3	lnc-BDP1-3	chr5:70717124-70717292	NONHSAT102024
4	lnc-BDP1-3	chr5:70717124-70717292	NONHSAT102023
5	lnc-BDP1-3	chr5:70717124-70717292	NONHSAT102025
6	lnc-BDP1-3	chr5:70716879-70717016	NONHSAT102023
7	lnc-BDP1-4	chr5:70681123-70681215	NONHSAT102015
8	lnc-BDP1-3	chr5:70707870-70709163	NONHSAT102021
9	lnc-BDP1-4	chr5:70681643-70681820	NONHSAT102016
10	lnc-GTF2H2-3	chr5:70741777-70742163	NONHSAT102012
11	lnc-BDP1-4	chr5:70681123-70681260	NONHSAT102018
12	lnc-BDP1-3	chr5:70716879-70717016	NONHSAT102021
13	lnc-BDP1-3	chr5:70709089-70709163	NONHSAT102022
14	lnc-BDP1-3	chr5:70707369-70707599	NONHSAT102022
15	lnc-BDP1-3	chr5:70707369-70707599	NONHSAT102021
16	lnc-BDP1-3	chr5:70717399-70717576	NONHSAT102021
17	lnc-BDP1-3	chr5:70709089-70709163	NONHSAT102025
18	lnc-BDP1-4	chr5:70681643-70681819	NONHSAT102017
19	lnc-BDP1-3	chr5:70716917-70717016	NONHSAT102025
20	lnc-BDP1-3	chr5:70716879-70717016	NONHSAT102022
21	lnc-BDP1-1	chr5:70741443-70741499	XLOC_004418
22	lnc-GTF2H2-3	chr5:70741472-70741612	ENSG00000250387
23	lnc-BDP1-3	chr5:70717124-70717292	NONHSAT102022
24	lnc-BDP1-4	chr5:70681643-70681819	NONHSAT102015
25	lnc-BDP1-4	chr5:70674302-70675060	NONHSAT102019
26	lnc-BDP1-4	chr5:70681643-70681819	NONHSAT102014
27	lnc-GTF2H2-9	chr5:70683438-70685506	ucscGeneNc_uc010iyu_1
28	lnc-GTF2H2-3	chr5:70741777-70742163	ENSG00000250387
29	lnc-BDP1-3	chr5:70707870-70709163	NONHSAT102023
30	lnc-GTF2H2-3	chr5:70741472-70742169	ENSG00000250387
31	lnc-GTF2H2-3	chr5:70741472-70741612	NONHSAT102012
32	lnc-BDP1-3	chr5:70707369-70707599	NONHSAT102025
33	lnc-BDP1-3	chr5:70707369-70707599	NONHSAT102023
34	lnc-BDP1-1	chr5:70741887-70742396	XLOC_004418
35	lnc-BDP1-4	chr5:70681368-70681621	NONHSAT102018
36	lnc-BDP1-4	chr5:70681157-70681260	NONHSAT102014
37	lnc-BDP1-3	chr5:70709089-70709163	NONHSAT102024
38	lnc-BDP1-3	chr5:70707369-70707599	NONHSAT102024
39	lnc-BDP1-3	chr5:70710615-70710691	NONHSAT102024

No data

Variant related genes	Relation type
ENSG00000253985	TF binding region
ENSG00000250387	TF binding region
ENSG00000265132	TF binding region
ENSG00000249981	TF binding region
ENSG00000253985	CpG island
ENSG00000250387	CpG island
ENSG00000265132	CpG island
ENSG00000249981	CpG island
ENSG00000145734	chromatin interactions
RAB5B	miRNA target sites

Extended variants
information (count: 1300 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1300 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577368989	chr5:70674637-70674638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544833973	chr5:70674652-70674653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs370029376	chr5:70674653-70674654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs575243826	chr5:70674660-70674661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541823278	chr5:70674726-70674727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs560214093	chr5:70674790-70674791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs527348275	chr5:70674795-70674796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551999306	chr5:70674852-70674853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184686595	chr5:70674876-70674877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs189710856	chr5:70674900-70674901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181285722	chr5:70674913-70674914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs549605948	chr5:70674935-70674936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs6453370	chr5:70674945-70674946	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
14	rs535389487	chr5:70674967-70674968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548142662	chr5:70675003-70675004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566536867	chr5:70675045-70675046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs534251109	chr5:70675054-70675055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs7378507	chr5:70675231-70675232	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs538038351	chr5:70675240-70675241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555759080	chr5:70680006-70680007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180989732	chr5:70680032-70680033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149911456	chr5:70680044-70680045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559781658	chr5:70680113-70680114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533294265	chr5:70680117-70680118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6453402	chr5:70680128-70680129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563554099	chr5:70680132-70680133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531067863	chr5:70680183-70680184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186005399	chr5:70680209-70680210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567668232	chr5:70680210-70680211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528082352	chr5:70680236-70680237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546315762	chr5:70680258-70680259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190513218	chr5:70680316-70680317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538378134	chr5:70680387-70680388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557159273	chr5:70680395-70680396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557435175	chr5:70680405-70680406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182150175	chr5:70680430-70680431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576084604	chr5:70680468-70680469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186825920	chr5:70680494-70680495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564049074	chr5:70680508-70680509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554893008	chr5:70680512-70680513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6453403	chr5:70680532-70680533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541394552	chr5:70680618-70680619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6453405	chr5:70680666-70680667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs375283900	chr5:70680707-70680708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578018584	chr5:70680718-70680719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545105747	chr5:70680734-70680735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563492802	chr5:70680742-70680743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531008505	chr5:70680747-70680748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542856230	chr5:70680933-70680934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116400658	chr5:70681008-70681009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70680000-70681000	Enhancers	K562	blood
2	chr5:70680200-70680600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:70680600-70680800	Enhancers	Fetal Lung	lung
4	chr5:70680600-70681600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:70681000-70682000	Weak transcription	K562	blood
6	chr5:70682000-70682400	Enhancers	K562	blood
7	chr5:70682200-70682400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:70682400-70684000	Weak transcription	K562	blood
9	chr5:70683800-70684400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:70684000-70684600	Enhancers	K562	blood
11	chr5:70684200-70684600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:70686000-70686200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:70686000-70686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:70686000-70686400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:70686200-70687000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:70686400-70688200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:70687000-70687200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:70687200-70687600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:70687600-70688400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:70688200-70688600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:70693600-70693800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:70693600-70694400	Active TSS	Brain Anterior Caudate	brain
23	chr5:70693600-70694600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:70693600-70694800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:70693800-70694400	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:70693800-70694400	Active TSS	Brain Substantia Nigra	brain
27	chr5:70693800-70694600	Active TSS	Brain Angular Gyrus	brain
28	chr5:70694200-70694400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:70694400-70694600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:70694400-70694600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:70694400-70694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:70694400-70694600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:70694400-70694600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:70694400-70694600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr5:70694400-70694600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr5:70694400-70694600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr5:70694400-70694600	Active TSS	Fetal Brain Male	brain
38	chr5:70694400-70694800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:70694400-70694800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:70694400-70695000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:70694400-70695000	Enhancers	Fetal Lung	lung
42	chr5:70694400-70695400	Enhancers	K562	blood
43	chr5:70694600-70694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:70694600-70694800	Flanking Active TSS	Fetal Brain Male	brain
45	chr5:70694800-70695200	Enhancers	Fetal Brain Male	brain
46	chr5:70694800-70698400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:70694800-70698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:70694800-70698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:70694800-70700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:70695200-70695600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links