Variant report

Variant	nsv830358
Chromosome Location	chr5:80197105-80358920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1160)
CpG islands
(count:1222)
Chromatin interactive
region (count:30)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:80252820-80253186	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:80272769-80273171	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:80263258-80263878	HepG2	liver:	n/a	chr5:80263262-80263278
4	ARID3A	chr5:80265924-80266203	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:80341024-80341915	HepG2	liver:	n/a	n/a
6	BACH1	chr5:80252785-80253258	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:80254538-80254704	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:80255588-80256100	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:80339545-80339880	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr5:80223928-80224277	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:80252895-80253149	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr5:80263229-80263793	A549	lung:	n/a	n/a
13	BCL3	chr5:80255146-80256092	GM12878	blood:	n/a	n/a
14	BCL3	chr5:80255488-80255974	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:80339625-80339849	K562	blood:	n/a	n/a
16	BHLHE40	chr5:80285378-80285574	K562	blood:	n/a	n/a
17	CBX3	chr5:80198557-80198769	K562	blood:	n/a	n/a
18	CBX3	chr5:80198459-80198842	K562	blood:	n/a	n/a
19	CEBPB	chr5:80264767-80264862	K562	blood:	n/a	chr5:80264810-80264821
20	CEBPB	chr5:80209751-80209959	A549	lung:	n/a	chr5:80209843-80209854
21	CEBPB	chr5:80201257-80201624	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:80272609-80273003	HepG2	liver:	n/a	n/a
23	CEBPB	chr5:80216288-80216488	HepG2	liver:	n/a	n/a
24	CEBPB	chr5:80263320-80264021	IMR90	lung:	n/a	chr5:80263556-80263569 chr5:80263556-80263569
25	CEBPB	chr5:80284474-80284674	A549	lung:	n/a	n/a
26	CEBPB	chr5:80201157-80201615	A549	lung:	n/a	n/a
27	CEBPB	chr5:80201309-80201675	MCF-7	breast:	n/a	n/a
28	CEBPB	chr5:80201317-80201583	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr5:80252917-80253299	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr5:80201274-80201673	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr5:80265915-80266096	A549	lung:	n/a	n/a
32	CEBPB	chr5:80252810-80253125	HepG2	liver:	n/a	n/a
33	CEBPB	chr5:80216161-80216585	MCF-7	breast:	n/a	n/a
34	CEBPB	chr5:80263805-80263962	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr5:80201351-80201545	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:80286933-80287204	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr5:80201257-80201622	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr5:80209770-80210038	HepG2	liver:	n/a	chr5:80209953-80209966 chr5:80209843-80209854
39	CEBPB	chr5:80201275-80201622	A549	lung:	n/a	n/a
40	CEBPB	chr5:80201247-80201635	K562	blood:	n/a	n/a
41	CEBPB	chr5:80318580-80318818	HepG2	liver:	n/a	n/a
42	CEBPB	chr5:80339620-80339863	HepG2	liver:	n/a	n/a
43	CEBPB	chr5:80263384-80263993	A549	lung:	n/a	chr5:80263556-80263569 chr5:80263556-80263569
44	CEBPB	chr5:80261199-80261409	HepG2	liver:	n/a	n/a
45	CEBPB	chr5:80339651-80339893	K562	blood:	n/a	n/a
46	CEBPB	chr5:80314501-80314852	IMR90	lung:	n/a	n/a
47	CEBPB	chr5:80257653-80257965	HepG2	liver:	n/a	n/a
48	CEBPB	chr5:80339580-80339897	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr5:80286936-80287198	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:80257643-80257958	IMR90	lung:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:80256137-80256187	NH-A	brain:	n/a
2	chr5:80257268-80257318	CMK	blood:	n/a
3	chr5:80256137-80256187	NH-A	brain:	n/a
4	chr5:80257268-80257318	CMK	blood:	n/a
5	chr5:80256738-80256788	SK-N-MC	brain:	n/a
6	chr5:80286535-80286585	PrEC	prostate:	n/a
7	chr5:80256738-80256788	BE2_C	brain:	n/a
8	chr5:80255793-80255843	HepG2	liver:	n/a
9	chr5:80256664-80256714	RPTEC	kidney:	n/a
10	chr5:80286535-80286585	ECC-1	luminal epithelium:	n/a
11	chr5:80256971-80257021	BJ	skin:	n/a
12	chr5:80257322-80257372	HCM	heart:	n/a
13	chr5:80253900-80253950	ProgFib	skin:	n/a
14	chr5:80272559-80272609	HCM	heart:	n/a
15	chr5:80212883-80212933	HRPEpiC	eye:	n/a
16	chr5:80256137-80256187	HCPEpiC	choroid plexus:	n/a
17	chr5:80256087-80256137	HNPCEpiC	eye:	n/a
18	chr5:80256371-80256421	ProgFib	skin:	n/a
19	chr5:80306626-80306676	RPTEC	kidney:	n/a
20	chr5:80256524-80256574	NHBE	bronchial:	n/a
21	chr5:80257322-80257372	PANC-1	pancreas:	n/a
22	chr5:80257268-80257318	SKMC	muscle:	n/a
23	chr5:80212883-80212933	RPTEC	kidney:	n/a
24	chr5:80256971-80257021	GM12892	blood:	n/a
25	chr5:80256664-80256714	SAEC	small airway:	n/a
26	chr5:80253900-80253950	NHBE	bronchial:	n/a
27	chr5:80255793-80255843	NT2-D1	testis:	n/a
28	chr5:80272559-80272609	NT2-D1	testis:	n/a
29	chr5:80256738-80256788	MCF10A-Er-Src	breast:	n/a
30	chr5:80212883-80212933	SAEC	small airway:	n/a
31	chr5:80256535-80256585	ProgFib	skin:	n/a
32	chr5:80257268-80257318	HEK293	kidney:	embryo
33	chr5:80256664-80256714	HNPCEpiC	eye:	n/a
34	chr5:80272559-80272609	Jurkat	blood:	n/a
35	chr5:80256371-80256421	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:80260554-80260604	NHDF-neo	bronchial:	n/a
37	chr5:80256087-80256137	HCF	heart:	n/a
38	chr5:80256371-80256421	HCF	heart:	n/a
39	chr5:80253900-80253950	HCT-116	colon:	n/a
40	chr5:80286535-80286585	GM12878	blood:	n/a
41	chr5:80286535-80286585	NT2-D1	testis:	n/a
42	chr5:80257268-80257318	HCPEpiC	choroid plexus:	n/a
43	chr5:80260554-80260604	HEK293	kidney:	embryo
44	chr5:80256664-80256714	Hela-S3	cervix:	n/a
45	chr5:80256664-80256714	U87	brain:	n/a
46	chr5:80257268-80257318	GM06990	blood:	n/a
47	chr5:80255793-80255843	RPTEC	kidney:	n/a
48	chr5:80316822-80316872	NT2-D1	testis:	n/a
49	chr5:80253900-80253950	HEEpiC	esophagus:	n/a
50	chr5:80316822-80316872	SK-N-MC	brain:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:
2	chr5:80278839..80280543-chr5:80284483..80286829,2	K562	blood:
3	chr5:80304567..80306339-chr5:80307173..80308776,2	MCF-7	breast:
4	chr5:80270169..80272564-chr5:80280010..80282072,2	K562	blood:
5	chr5:80339660..80341192-chr5:80345997..80348393,2	K562	blood:
6	chr13:51532795..51533745-chr5:80312236..80312930,2	MCF-7	breast:
7	chr5:80204732..80207164-chr5:80208372..80210504,2	MCF-7	breast:
8	chr5:80267901..80270564-chr5:80277516..80279605,2	K562	blood:
9	chr5:80270169..80272564-chr5:80280010..80282072,2	K562	blood:
10	chr5:80210116..80213052-chr5:80215295..80217111,2	K562	blood:
11	chr5:80231930..80232621-chr5:80490670..80491259,2	MCF-7	breast:
12	chr5:80257641..80260093-chr5:80260267..80261887,2	MCF-7	breast:
13	chr5:80210116..80213052-chr5:80215295..80217111,2	K562	blood:
14	chr5:80316222..80317107-chr5:80490719..80491566,2	MCF-7	breast:
15	chr5:80267901..80270564-chr5:80277516..80279605,2	K562	blood:
16	chr5:80204732..80207164-chr5:80208372..80210504,2	MCF-7	breast:
17	chr5:80357227..80360103-chr5:80369290..80370908,2	K562	blood:
18	chr5:80293956..80295842-chr5:80296253..80298015,2	K562	blood:
19	chr5:80007875..80008731-chr5:80231558..80232212,3	MCF-7	breast:
20	chr5:80293956..80295842-chr5:80296253..80298015,2	K562	blood:
21	chr5:80231781..80232515-chr5:80403933..80404736,2	MCF-7	breast:
22	chr5:80309029..80312637-chr5:80313535..80317420,3	K562	blood:
23	chr5:80339660..80341192-chr5:80345997..80348393,2	K562	blood:
24	chr5:80278839..80280543-chr5:80284483..80286829,2	K562	blood:
25	chr5:80284586..80286843-chr5:80294142..80297037,2	K562	blood:
26	chr5:80304567..80306339-chr5:80307173..80308776,2	MCF-7	breast:
27	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:
28	chr5:80312638..80314887-chr5:80409746..80411334,2	K562	blood:
29	chr5:80284586..80286843-chr5:80294142..80297037,2	K562	blood:
30	chr5:80257641..80260093-chr5:80260267..80261887,2	MCF-7	breast:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHFR-6	chr5:80283022-80283064	l_2955_chr5:80279306-80283064_testes
2	lnc-ACOT12-10	chr5:80293833-80293866	NONHSAT102429
3	lnc-ACOT12-10	chr5:80293002-80293503	NONHSAT102429
4	lnc-MSH3-3	chr5:80209998-80210402	NONHSAT102421
5	lnc-DHFR-2	chr5:80243558-80243813	XLOC_004907
6	lnc-DHFR-2	chr5:80245580-80245747	XLOC_004907
7	lnc-DHFR-2	chr5:80244148-80244223	XLOC_004907
8	lnc-DHFR-2	chr5:80243530-80243813	XLOC_004907
9	lnc-DHFR-2	chr5:80243512-80243813	NR_105015
10	lnc-DHFR-2	chr5:80244148-80244223	XLOC_004907
11	lnc-DHFR-2	chr5:80244148-80244223	NR_105015
12	lnc-MSH3-3	chr5:80210416-80210449	NONHSAT102421
13	lnc-DHFR-6	chr5:80279904-80279979	l_2955_chr5:80279306-80283064_testes
14	lnc-DHFR-2	chr5:80256150-80256189	XLOC_004907
15	lnc-DHFR-2	chr5:80243551-80243813	XLOC_004907
16	lnc-DHFR-2	chr5:80248487-80248799	XLOC_004907
17	lnc-DHFR-6	chr5:80279307-80279569	l_2955_chr5:80279306-80283064_testes
18	lnc-DHFR-2	chr5:80243764-80243813	XLOC_004907
19	lnc-DHFR-2	chr5:80244148-80244223	ENSG00000251450.1
20	lnc-DHFR-2	chr5:80245580-80246019	NONHSAT102427
21	lnc-DHFR-2	chr5:80247266-80247290	XLOC_004907
22	lnc-DHFR-2	chr5:80243516-80243813	ENSG00000251450.1
23	lnc-DHFR-2	chr5:80256600-80256726	NR_105015
24	lnc-DHFR-2	chr5:80246948-80247299	XLOC_004907
25	lnc-DHFR-2	chr5:80244148-80244319	XLOC_004907
26	lnc-DHFR-2	chr5:80247266-80247299	ENSG00000251450.1
27	lnc-DHFR-2	chr5:80256600-80256726	ENSG00000251450.1
28	lnc-MSH3-3	chr5:80211461-80211519	NONHSAT102421
29	lnc-DHFR-2	chr5:80244098-80244223	NONHSAT102427
30	lnc-DHFR-2	chr5:80247266-80247299	NR_105015
31	lnc-DHFR-2	chr5:80244148-80244223	XLOC_004907

No data

Variant related genes	Relation type
ENSG00000251450	TF binding region
RASGRF2	TF binding region
ENSG00000251001	TF binding region
ENSG00000251450	CpG island
RASGRF2	CpG island
ENSG00000251001	CpG island
ENSG00000113319	chromatin interactions
ENSG00000249772	chromatin interactions
FOXO1	miRNA target sites
CLSTN1	miRNA target sites
CALU	miRNA target sites
SSFA2	miRNA target sites
CLPP	miRNA target sites
FIZ1	miRNA target sites

Extended variants
information (count: 5788 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:5788 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186857972	chr5:80197135-80197136	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554258328	chr5:80197191-80197192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559153899	chr5:80197223-80197224	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576901115	chr5:80197243-80197244	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575924520	chr5:80197247-80197248	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527250667	chr5:80197253-80197254	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544349025	chr5:80197281-80197282	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545873289	chr5:80197316-80197317	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149089259	chr5:80197375-80197376	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6872308	chr5:80197478-80197479	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191736641	chr5:80197524-80197525	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183517466	chr5:80197528-80197529	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545709340	chr5:80197535-80197536	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561607710	chr5:80197538-80197539	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188059417	chr5:80197590-80197591	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115609924	chr5:80197591-80197592	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180961819	chr5:80197705-80197706	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568138884	chr5:80197739-80197740	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370935659	chr5:80197758-80197759	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547370331	chr5:80197767-80197768	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570471100	chr5:80197768-80197769	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537520571	chr5:80197770-80197771	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6874051	chr5:80197775-80197776	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559312687	chr5:80197785-80197786	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569476790	chr5:80197786-80197787	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538417079	chr5:80197789-80197790	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554902591	chr5:80197923-80197924	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377560728	chr5:80197937-80197938	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539817926	chr5:80197947-80197948	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540341245	chr5:80197950-80197951	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371072299	chr5:80197993-80197994	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114663202	chr5:80198046-80198047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11333499	chr5:80198086-80198087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576380901	chr5:80198092-80198093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60976637	chr5:80198093-80198094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6887422	chr5:80198108-80198109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs79968853	chr5:80198159-80198160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55661202	chr5:80198160-80198161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373789522	chr5:80198169-80198170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531763392	chr5:80198180-80198181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185659071	chr5:80198198-80198199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548875089	chr5:80198206-80198207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190581488	chr5:80198210-80198211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534223709	chr5:80198213-80198214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114082212	chr5:80198214-80198215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547530294	chr5:80198274-80198275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547418114	chr5:80198290-80198291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532933650	chr5:80198294-80198295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367557368	chr5:80198308-80198309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570496916	chr5:80198321-80198322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2013 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:80180400-80215000	Weak transcription	Fetal Kidney	kidney
3	chr5:80187000-80197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:80187200-80197200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:80187400-80197200	Weak transcription	Pancreas	Pancrea
6	chr5:80196400-80197200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
7	chr5:80197000-80197600	ZNF genes & repeats	Aorta	Aorta
8	chr5:80197000-80197800	Strong transcription	Liver	Liver
9	chr5:80197000-80198000	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr5:80197200-80197600	ZNF genes & repeats	Pancreas	Pancrea
11	chr5:80197200-80198000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:80197400-80197600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr5:80197600-80207000	Weak transcription	Pancreas	Pancrea
14	chr5:80197600-80207600	Weak transcription	Aorta	Aorta
15	chr5:80197800-80208200	Weak transcription	Liver	Liver
16	chr5:80198000-80200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:80198000-80202000	Weak transcription	Primary T cells from cord blood	blood
18	chr5:80198600-80201200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:80199600-80200400	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:80199600-80200800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:80199600-80200800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:80199800-80200800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:80200000-80200400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:80200000-80200800	Enhancers	GM12878-XiMat	blood
25	chr5:80200200-80200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:80207000-80207200	ZNF genes & repeats	Pancreas	Pancrea
27	chr5:80207600-80207800	ZNF genes & repeats	Aorta	Aorta
28	chr5:80208200-80208400	ZNF genes & repeats	Liver	Liver
29	chr5:80208400-80208600	Weak transcription	Liver	Liver
30	chr5:80209600-80210800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:80210000-80210400	Enhancers	Adipose Nuclei	Adipose
32	chr5:80210800-80213400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:80211600-80213200	Enhancers	NHDF-Ad	bronchial
34	chr5:80211800-80212200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:80211800-80212600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:80211800-80212600	Enhancers	Ovary	ovary
37	chr5:80211800-80213000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:80212000-80212200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:80212200-80213400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:80212400-80213400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:80212400-80214000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:80212600-80213600	Weak transcription	Ovary	ovary
43	chr5:80212600-80215600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:80212800-80213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:80213200-80213800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:80213200-80213800	Enhancers	Dnd41	blood
47	chr5:80213200-80214000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:80213200-80214000	Enhancers	GM12878-XiMat	blood
49	chr5:80213200-80214600	Enhancers	Primary T cells from cord blood	blood
50	chr5:80213400-80213800	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links