Variant report

Variant	nsv880999
Chromosome Location	chr5:27388559-27770554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1498)
CpG islands
(count:550)
Chromatin interactive
region (count:46)
LncRNA
region (count:45)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1498 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:27471950-27472762	HepG2	liver:	n/a	n/a
2	ATF1	chr5:27428887-27428920	K562	blood:	n/a	n/a
3	ATF1	chr5:27558936-27558964	K562	blood:	n/a	n/a
4	ATF2	chr5:27472335-27472849	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:27480439-27480694	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:27472100-27472589	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr5:27652535-27652935	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr5:27652689-27652930	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:27661991-27662055	K562	blood:	n/a	n/a
10	BACH1	chr5:27556668-27556706	K562	blood:	n/a	n/a
11	BACH1	chr5:27472602-27472610	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr5:27473140-27473798	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:27619787-27619798	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:27473428-27473653	HepG2	liver:	n/a	n/a
15	BHLHE40	chr5:27473142-27473831	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:27473412-27473860	A549	lung:	n/a	n/a
17	BHLHE40	chr5:27473085-27473935	K562	blood:	n/a	n/a
18	BHLHE40	chr5:27523586-27524110	HepG2	liver:	n/a	n/a
19	BHLHE40	chr5:27472077-27472614	GM12878	blood:	n/a	n/a
20	BHLHE40	chr5:27390071-27390112	K562	blood:	n/a	n/a
21	BHLHE40	chr5:27523477-27524035	K562	blood:	n/a	n/a
22	BRCA1	chr5:27403373-27403840	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:27690611-27690620	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:27573051-27573067	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:27702297-27703320	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:27472043-27473952	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:27706985-27707310	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:27652682-27653064	MCF-7	breast:	n/a	chr5:27652846-27652857
29	CEBPB	chr5:27674192-27674503	K562	blood:	n/a	chr5:27674346-27674355 chr5:27674346-27674355 chr5:27674344-27674357 chr5:27674346-27674355
30	CEBPB	chr5:27434380-27434748	ECC-1	luminal epithelium:	n/a	chr5:27434536-27434547 chr5:27434534-27434547 chr5:27434534-27434545 chr5:27434726-27434743
31	CEBPB	chr5:27713019-27713253	HepG2	liver:	n/a	chr5:27713148-27713165
32	CEBPB	chr5:27488786-27488986	HepG2	liver:	n/a	chr5:27488807-27488820 chr5:27488848-27488857 chr5:27488846-27488857 chr5:27488809-27488820 chr5:27488809-27488820 chr5:27488807-27488818 chr5:27488807-27488820
33	CEBPB	chr5:27556395-27556606	A549	lung:	n/a	chr5:27556450-27556461
34	CEBPB	chr5:27390811-27391135	HepG2	liver:	n/a	n/a
35	CEBPB	chr5:27459726-27459987	HepG2	liver:	n/a	chr5:27459841-27459854 chr5:27459841-27459852 chr5:27459842-27459853
36	CEBPB	chr5:27390852-27391121	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr5:27510098-27510421	HepG2	liver:	n/a	chr5:27510236-27510247
38	CEBPB	chr5:27541950-27542182	HepG2	liver:	n/a	chr5:27541959-27541970 chr5:27541996-27542007
39	CEBPB	chr5:27472147-27472690	HepG2	liver:	n/a	n/a
40	CEBPB	chr5:27414276-27414476	HepG2	liver:	n/a	n/a
41	CEBPB	chr5:27510109-27510409	A549	lung:	n/a	chr5:27510236-27510247
42	CEBPB	chr5:27510195-27510392	K562	blood:	n/a	chr5:27510236-27510247
43	CEBPB	chr5:27711480-27711734	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:27652664-27653021	HepG2	liver:	n/a	chr5:27652846-27652857
45	CEBPB	chr5:27448587-27448827	HepG2	liver:	n/a	chr5:27448671-27448682
46	CEBPB	chr5:27531759-27531985	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr5:27497947-27498299	HepG2	liver:	n/a	chr5:27498130-27498139 chr5:27498130-27498139
48	CEBPB	chr5:27674170-27674526	H1-hESC	embryonic stem cell:	n/a	chr5:27674346-27674355 chr5:27674346-27674355 chr5:27674344-27674357 chr5:27674346-27674355
49	CEBPB	chr5:27611392-27611700	HepG2	liver:	n/a	chr5:27611459-27611470 chr5:27611545-27611556
50	CEBPB	chr5:27713053-27713207	H1-hESC	embryonic stem cell:	n/a	chr5:27713148-27713165

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:27523974-27524024	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:27523974-27524024	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:27743668-27743718	HAEpiC	amniotic membrane:	n/a
4	chr5:27472029-27472079	K562	blood:	n/a
5	chr5:27532684-27532734	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:27743668-27743718	Hepatocyte	liver:	n/a
7	chr5:27523909-27523959	ProgFib	skin:	n/a
8	chr5:27472542-27472592	A549	lung:	n/a
9	chr5:27438836-27438886	IMR90	lung:	fetal
10	chr5:27523974-27524024	PrEC	prostate:	n/a
11	chr5:27472542-27472592	MCF-7	breast:	n/a
12	chr5:27523974-27524024	SK-N-SH	brain:	n/a
13	chr5:27743660-27743710	CMK	blood:	n/a
14	chr5:27743660-27743710	IMR90	lung:	fetal
15	chr5:27532684-27532734	PrEC	prostate:	n/a
16	chr5:27472029-27472079	MCF10A-Er-Src	breast:	n/a
17	chr5:27472542-27472592	ECC-1	luminal epithelium:	n/a
18	chr5:27532684-27532734	HCPEpiC	choroid plexus:	n/a
19	chr5:27532684-27532734	U87	brain:	n/a
20	chr5:27438836-27438886	SK-N-SH	brain:	n/a
21	chr5:27472520-27472570	HRE	kidney:	n/a
22	chr5:27523974-27524024	CMK	blood:	n/a
23	chr5:27438836-27438886	HIPEpiC	eye:	n/a
24	chr5:27438836-27438886	HRPEpiC	eye:	n/a
25	chr5:27472029-27472079	U87	brain:	n/a
26	chr5:27743668-27743718	HNPCEpiC	eye:	n/a
27	chr5:27743668-27743718	ProgFib	skin:	n/a
28	chr5:27472542-27472592	AG09309	skin:	n/a
29	chr5:27472029-27472079	MCF-7	breast:	n/a
30	chr5:27523909-27523959	Caco-2	colon:	n/a
31	chr5:27743660-27743710	SAEC	small airway:	n/a
32	chr5:27743668-27743718	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:27743668-27743718	GM06990	blood:	n/a
34	chr5:27472029-27472079	HMEC	breast:	n/a
35	chr5:27472029-27472079	Hepatocyte	liver:	n/a
36	chr5:27743660-27743710	HCT-116	colon:	n/a
37	chr5:27523974-27524024	NHBE	bronchial:	n/a
38	chr5:27472029-27472079	AoSMC	blood vessel:	n/a
39	chr5:27472029-27472079	AG04450	lung:	fetal
40	chr5:27472520-27472570	NT2-D1	testis:	n/a
41	chr5:27743660-27743710	SK-N-SH_RA	brain:	n/a
42	chr5:27523909-27523959	HMEC	breast:	n/a
43	chr5:27472029-27472079	ECC-1	luminal epithelium:	n/a
44	chr5:27532684-27532734	MCF-7	breast:	n/a
45	chr5:27523974-27524024	HepG2	liver:	n/a
46	chr5:27472520-27472570	PrEC	prostate:	n/a
47	chr5:27472542-27472592	PANC-1	pancreas:	n/a
48	chr5:27472029-27472079	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:27438836-27438886	NH-A	brain:	n/a
50	chr5:27472520-27472570	HAEpiC	amniotic membrane:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
2	chr13:92004278..92006382-chr5:27545617..27547117,2	K562	blood:
3	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
4	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
5	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
6	chr5:27466020..27468393-chr5:27470324..27473144,3	K562	blood:
7	chr5:27467308..27469302-chr5:27473283..27475423,2	K562	blood:
8	chr5:27483953..27485836-chr5:27487380..27490659,3	K562	blood:
9	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
10	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:
11	chr10:69644380..69644911-chr5:27472591..27473140,2	Hela-S3	cervix:
12	chr5:27470415..27473388-chr5:27486185..27488435,2	K562	blood:
13	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
14	chr5:27441556..27444509-chr5:27447634..27449803,2	K562	blood:
15	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
16	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
17	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:
18	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
19	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
20	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
21	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
22	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
23	chr19:45907739..45908484-chr5:27472364..27473126,2	Hela-S3	cervix:
24	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
25	chr5:27467308..27469302-chr5:27473283..27475423,2	K562	blood:
26	chr5:27483953..27486391-chr5:27488039..27490659,3	K562	blood:
27	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
28	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
29	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
30	chr5:27483953..27486391-chr5:27488039..27490659,3	K562	blood:
31	chr5:27662645..27663246-chr6:2453687..2454350,2	MCF-7	breast:
32	chr5:27483953..27485836-chr5:27487380..27490659,3	K562	blood:
33	chr5:27441556..27444509-chr5:27447634..27449803,2	K562	blood:
34	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:
35	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
36	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
37	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
38	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
39	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
40	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
41	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
42	chr5:27465898..27467546-chr5:27470324..27472509,2	K562	blood:
43	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
44	chr5:27483622..27485658-chr5:27500054..27501684,2	K562	blood:
45	chr5:27483622..27485658-chr5:27500054..27501684,2	K562	blood:
46	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:

(count:45 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf17-13	chr5:27497127-27497768	NONHSAT100808
2	lnc-C5orf17-8	chr5:27476833-27477908	XLOC_004323
3	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337
4	lnc-C5orf17-8	chr5:27476194-27477201	XLOC_004323
5	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
6	lnc-CDH9-2	chr5:27412720-27412796	XLOC_004761
7	lnc-CDH9-2	chr5:27423608-27423708	XLOC_004761
8	lnc-C5orf17-8	chr5:27489389-27489493	ENSG00000250337
9	lnc-C5orf17-8	chr5:27477746-27477908	ENSG00000250337
10	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
11	lnc-C5orf17-9	chr5:27574964-27575000	XLOC_004324
12	lnc-C5orf17-8	chr5:27489389-27489493	ENSG00000250337
13	lnc-CDH9-2	chr5:27412713-27412796	XLOC_004761
14	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
15	lnc-CDH9-9	chr5:27446084-27446144	l_2893_chr5:27442393-27446144_testes
16	lnc-C5orf17-8	chr5:27485033-27485136	ENSG00000250337
17	lnc-C5orf17-8	chr5:27494420-27494442	XLOC_004323
18	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
19	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
20	lnc-C5orf17-8	chr5:27494226-27494425	ENSG00000250337
21	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
22	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
23	lnc-CDH9-2	chr5:27412713-27412768	XLOC_004761
24	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337
25	lnc-C5orf17-8	chr5:27472418-27472626	XLOC_004323
26	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
27	lnc-C5orf17-14	chr5:27508148-27508383	ucscGeneNc_uc003jgv_1
28	lnc-C5orf17-9	chr5:27570754-27570955	XLOC_004324
29	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
30	lnc-C5orf17-14	chr5:27511399-27511559	ucscGeneNc_uc003jgv_1
31	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
32	lnc-C5orf17-8	chr5:27485033-27487999	XLOC_004323
33	lnc-CDH9-9	chr5:27448470-27448525	l_2893_chr5:27442393-27446144_testes
34	lnc-C5orf17-8	chr5:27494342-27494425	ENSG00000250337
35	lnc-C5orf17-8	chr5:27494342-27494425	ENSG00000250337
36	lnc-CDH9-2	chr5:27436260-27436518	XLOC_004761
37	lnc-C5orf17-8	chr5:27496056-27496274	XLOC_004323
38	lnc-C5orf17-8	chr5:27485033-27485136	ENSG00000250337
39	lnc-C5orf17-8	chr5:27475642-27475802	XLOC_004323
40	lnc-CDH9-2	chr5:27428267-27428320	XLOC_004761
41	lnc-C5orf17-14	chr5:27520790-27521692	ucscGeneNc_uc003jgv_1
42	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337
43	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
44	lnc-CDH9-9	chr5:27442394-27442634	l_2893_chr5:27442393-27446144_testes
45	lnc-CDH9-2	chr5:27412775-27412796	XLOC_004761

No data

Variant related genes	Relation type
LINC01021	TF binding region
ENSG00000248490	TF binding region
LINC01021	CpG island
ENSG00000248490	CpG island
ENSG00000096717	chromatin interactions
ENSG00000250337	chromatin interactions
ENSG00000104881	chromatin interactions
SCCPDH	miRNA target sites
BCL2	miRNA target sites
CHEK1	miRNA target sites
SIRT1	miRNA target sites
TERF2	miRNA target sites
KRAS	miRNA target sites
YWHAQ	miRNA target sites
CKAP5	miRNA target sites
NUDT12	miRNA target sites
PTPN22	miRNA target sites
SYNJ1	miRNA target sites
BTAF1	miRNA target sites
RANBP10	miRNA target sites

Extended variants
information (count: 4479 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:4479 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2434676	chr5:27388559-27388560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555930841	chr5:27388562-27388563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183453306	chr5:27388584-27388585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188108739	chr5:27388597-27388598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562907290	chr5:27388603-27388604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2446704	chr5:27388633-27388634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545330113	chr5:27388653-27388654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192688331	chr5:27388675-27388676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577120782	chr5:27388754-27388755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542203933	chr5:27388772-27388773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2434677	chr5:27388778-27388779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573200663	chr5:27388791-27388792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375672855	chr5:27388792-27388793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148543724	chr5:27388818-27388819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80178451	chr5:27388847-27388848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185081802	chr5:27388848-27388849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532328780	chr5:27388857-27388858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547415283	chr5:27388894-27388895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186723769	chr5:27388933-27388934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534211591	chr5:27388963-27388964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367864143	chr5:27389005-27389006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555769285	chr5:27389016-27389017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191477680	chr5:27389033-27389034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1380464	chr5:27389085-27389086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184789961	chr5:27389144-27389145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115013734	chr5:27389146-27389147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569628959	chr5:27389152-27389153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545577243	chr5:27389157-27389158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554081822	chr5:27389169-27389170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200005101	chr5:27389191-27389192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201970491	chr5:27389200-27389201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374140985	chr5:27389225-27389226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535234707	chr5:27389227-27389228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373912062	chr5:27389265-27389266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560505237	chr5:27389311-27389312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367959161	chr5:27389326-27389327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112017123	chr5:27389331-27389332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189474481	chr5:27389335-27389336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368176637	chr5:27389409-27389410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116673609	chr5:27389439-27389440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142790688	chr5:27389463-27389464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150627788	chr5:27389494-27389495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547548480	chr5:27389522-27389523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572393773	chr5:27389541-27389542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181629085	chr5:27389554-27389555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569818262	chr5:27389568-27389569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185130288	chr5:27389586-27389587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140719343	chr5:27389594-27389595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537145179	chr5:27389641-27389642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538235213	chr5:27389658-27389659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27387000-27389200	Enhancers	HepG2	liver
2	chr5:27387600-27388800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:27388200-27389800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:27388600-27389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:27388800-27389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:27389200-27389600	Weak transcription	HepG2	liver
7	chr5:27389600-27390000	Enhancers	HepG2	liver
8	chr5:27389800-27390000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:27389800-27390200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:27392000-27393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:27392400-27393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:27402600-27404200	Active TSS	A549	lung
13	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
15	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
16	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
19	chr5:27403400-27404000	Active TSS	HMEC	breast
20	chr5:27403400-27404000	Active TSS	Osteobl	bone
21	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:27417800-27418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:27434000-27435200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:27434200-27435200	Enhancers	NHEK	skin
27	chr5:27435000-27435200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:27435000-27435400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:27435000-27435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:27435000-27435600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:27435200-27436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:27436200-27436600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:27436400-27436600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:27436800-27449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:27442800-27443200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:27446600-27449200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:27447600-27448400	ZNF genes & repeats	Spleen	Spleen
38	chr5:27450600-27451200	Enhancers	Fetal Heart	heart
39	chr5:27450800-27451000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:27450800-27451200	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:27450800-27451400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:27451000-27451400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:27451400-27452000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:27467800-27468400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:27467800-27468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:27468000-27468400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:27468000-27468600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:27468400-27472000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:27468400-27472200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:27468600-27470000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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