Variant report

Variant	nsv1018539
Chromosome Location	chr5:118355284-118445244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1532)
CpG islands
(count:917)
Chromatin interactive
region (count:59)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1532 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118407368-118407449	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:118395358-118395970	K562	blood:	n/a	n/a
3	ARID3A	chr5:118409996-118410235	K562	blood:	n/a	n/a
4	ARID3A	chr5:118371810-118372099	K562	blood:	n/a	n/a
5	ARID3A	chr5:118399444-118399673	K562	blood:	n/a	n/a
6	ARID3A	chr5:118357701-118357973	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:118373367-118373495	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:118406121-118406777	K562	blood:	n/a	n/a
9	ARID3A	chr5:118405742-118406993	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:118399250-118399579	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:118414951-118415381	K562	blood:	n/a	n/a
12	ATF1	chr5:118405927-118406962	K562	blood:	n/a	n/a
13	ATF1	chr5:118364378-118364510	K562	blood:	n/a	n/a
14	ATF1	chr5:118395450-118395887	K562	blood:	n/a	n/a
15	ATF1	chr5:118399473-118399753	K562	blood:	n/a	n/a
16	ATF1	chr5:118410040-118410119	K562	blood:	n/a	n/a
17	ATF1	chr5:118371867-118372145	K562	blood:	n/a	n/a
18	ATF2	chr5:118409921-118410605	GM12878	blood:	n/a	n/a
19	ATF2	chr5:118406032-118406975	GM12878	blood:	n/a	n/a
20	ATF2	chr5:118366666-118368003	GM12878	blood:	n/a	n/a
21	ATF2	chr5:118406159-118407169	GM12878	blood:	n/a	n/a
22	ATF2	chr5:118409872-118410675	GM12878	blood:	n/a	n/a
23	ATF2	chr5:118366532-118368054	GM12878	blood:	n/a	n/a
24	ATF3	chr5:118367678-118367927	K562	blood:	n/a	n/a
25	ATF3	chr5:118405986-118406901	A549	lung:	n/a	n/a
26	ATF3	chr5:118367697-118367907	K562	blood:	n/a	n/a
27	ATF3	chr5:118371855-118372194	K562	blood:	n/a	n/a
28	BACH1	chr5:118406517-118406966	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr5:118414944-118415775	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr5:118385636-118385867	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr5:118407174-118407431	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr5:118409998-118410330	GM12878	blood:	n/a	n/a
33	BATF	chr5:118366619-118367331	GM12878	blood:	n/a	chr5:118367009-118367020
34	BATF	chr5:118410023-118410530	GM12878	blood:	n/a	n/a
35	BATF	chr5:118415197-118415534	GM12878	blood:	n/a	n/a
36	BATF	chr5:118367591-118367989	GM12878	blood:	n/a	n/a
37	BATF	chr5:118415147-118415603	GM12878	blood:	n/a	n/a
38	BATF	chr5:118399470-118399698	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:118367108-118367373	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:118415243-118415608	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:118367023-118367364	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:118410073-118410262	GM12878	blood:	n/a	chr5:118410231-118410240
43	BCL3	chr5:118405871-118406908	A549	lung:	n/a	chr5:118406362-118406375 chr5:118406895-118406908
44	BCL3	chr5:118406049-118406983	A549	lung:	n/a	chr5:118406362-118406375 chr5:118406895-118406908
45	BCLAF1	chr5:118366920-118368014	GM12878	blood:	n/a	n/a
46	BCLAF1	chr5:118368349-118368736	GM12878	blood:	n/a	n/a
47	BCLAF1	chr5:118357554-118358293	GM12878	blood:	n/a	n/a
48	BCLAF1	chr5:118406118-118407095	GM12878	blood:	n/a	chr5:118406362-118406375 chr5:118406895-118406908
49	BCLAF1	chr5:118395371-118395982	K562	blood:	n/a	n/a
50	BCLAF1	chr5:118409916-118410653	GM12878	blood:	n/a	chr5:118410231-118410240

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118406365-118406415	HEEpiC	esophagus:	n/a
2	chr5:118406959-118407009	PFSK-1	brain:	n/a
3	chr5:118406365-118406415	HEEpiC	esophagus:	n/a
4	chr5:118406959-118407009	PFSK-1	brain:	n/a
5	chr5:118416915-118416965	HNPCEpiC	eye:	n/a
6	chr5:118406562-118406612	PANC-1	pancreas:	n/a
7	chr5:118406749-118406799	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:118407525-118407575	HMEC	breast:	n/a
9	chr5:118406936-118406986	ovcar-3	ovarian:	n/a
10	chr5:118406936-118406986	AoSMC	blood vessel:	n/a
11	chr5:118407039-118407089	GM12878	blood:	n/a
12	chr5:118407235-118407285	GM12891	blood:	n/a
13	chr5:118406759-118406809	CMK	blood:	n/a
14	chr5:118367693-118367743	HCPEpiC	choroid plexus:	n/a
15	chr5:118406970-118407020	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:118407037-118407087	SK-N-SH	brain:	n/a
17	chr5:118367693-118367743	BE2_C	brain:	n/a
18	chr5:118406759-118406809	Caco-2	colon:	n/a
19	chr5:118416915-118416965	PrEC	prostate:	n/a
20	chr5:118407235-118407285	IMR90	lung:	fetal
21	chr5:118406959-118407009	SAEC	small airway:	n/a
22	chr5:118406562-118406612	AoSMC	blood vessel:	n/a
23	chr5:118407037-118407087	RPTEC	kidney:	n/a
24	chr5:118416915-118416965	MCF10A-Er-Src	breast:	n/a
25	chr5:118406936-118406986	GM06990	blood:	n/a
26	chr5:118416915-118416965	PFSK-1	brain:	n/a
27	chr5:118406959-118407009	T-47D	breast:	n/a
28	chr5:118407037-118407087	HL-60	blood:	n/a
29	chr5:118407235-118407285	MCF10A-Er-Src	breast:	n/a
30	chr5:118406365-118406415	PANC-1	pancreas:	n/a
31	chr5:118406936-118406986	LNCaP	prostate:	n/a
32	chr5:118406938-118406988	U87	brain:	n/a
33	chr5:118406970-118407020	Hela-S3	cervix:	n/a
34	chr5:118406970-118407020	A549	lung:	n/a
35	chr5:118407037-118407087	HCPEpiC	choroid plexus:	n/a
36	chr5:118406970-118407020	GM12892	blood:	n/a
37	chr5:118407235-118407285	HAEpiC	amniotic membrane:	n/a
38	chr5:118406365-118406415	MCF-7	breast:	n/a
39	chr5:118367693-118367743	HRE	kidney:	n/a
40	chr5:118406970-118407020	HL-60	blood:	n/a
41	chr5:118406759-118406809	NHBE	bronchial:	n/a
42	chr5:118407525-118407575	HCM	heart:	n/a
43	chr5:118406970-118407020	Hepatocyte	liver:	n/a
44	chr5:118406938-118406988	ProgFib	skin:	n/a
45	chr5:118416915-118416965	SK-N-MC	brain:	n/a
46	chr5:118406936-118406986	Caco-2	colon:	n/a
47	chr5:118406562-118406612	NHBE	bronchial:	n/a
48	chr5:118407525-118407575	MCF10A-Er-Src	breast:	n/a
49	chr5:118406365-118406415	GM12891	blood:	n/a
50	chr5:118407235-118407285	NB4	blood:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:118368716..118371473-chr5:118745001..118746920,2	K562	blood:
2	chr5:118375214..118377898-chr5:118378275..118380615,2	MCF-7	breast:
3	chr5:118322139..118324413-chr5:118402034..118404050,2	K562	blood:
4	chr5:118442538..118444845-chr5:118444949..118447296,2	K562	blood:
5	chr5:118323806..118324367-chr5:118405985..118406648,2	Hela-S3	cervix:
6	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
7	chr5:118348689..118350989-chr5:118368039..118370331,2	MCF-7	breast:
8	chr5:118372007..118374418-chr5:118375621..118377132,2	K562	blood:
9	chr5:118394607..118397338-chr5:118401686..118403796,2	K562	blood:
10	chr5:118406491..118408879-chr5:118423582..118425820,2	MCF-7	breast:
11	chr5:118405552..118407163-chr5:118413181..118416258,3	K562	blood:
12	chr5:118415616..118417740-chr5:118600067..118602902,2	MCF-7	breast:
13	chr5:118346442..118349626-chr5:118352626..118357171,4	K562	blood:
14	chr5:118396867..118401379-chr5:118402129..118406971,7	K562	blood:
15	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:
16	chr5:118357201..118359972-chr5:118405871..118408203,2	MCF-7	breast:
17	chr5:118378371..118379918-chr5:118381011..118383636,2	K562	blood:
18	chr10:70091439..70091939-chr5:118406836..118407337,2	Hela-S3	cervix:
19	chr5:118405385..118408063-chr5:118418201..118420659,2	K562	blood:
20	chr5:118405803..118408184-chr5:118416454..118418702,2	MCF-7	breast:
21	chr5:118398187..118399775-chr5:118406820..118408507,2	MCF-7	breast:
22	chr5:118322908..118325429-chr5:118357118..118359882,3	MCF-7	breast:
23	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
24	chr5:118402207..118403779-chr5:118404633..118406380,2	K562	blood:
25	chr5:118385813..118388294-chr5:118389769..118394686,4	K562	blood:
26	chr5:118393227..118394919-chr5:118405422..118407131,2	MCF-7	breast:
27	chr12:56435851..56438826-chr5:118405352..118408278,2	MCF-7	breast:
28	chr5:118442391..118447973-chr5:118448057..118454025,9	K562	blood:
29	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
30	chr5:118371638..118373297-chr5:118603992..118605933,2	MCF-7	breast:
31	chr5:118406208..118409819-chr5:118421498..118424768,4	MCF-7	breast:
32	chr5:118375214..118377898-chr5:118378275..118380615,2	MCF-7	breast:
33	chr5:118416875..118419760-chr5:118654118..118656007,2	K562	blood:
34	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:
35	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:
36	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
37	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
38	chr5:118378371..118379918-chr5:118381011..118383636,2	K562	blood:
39	chr5:118416688..118419081-chr5:118737050..118740009,2	K562	blood:
40	chr5:118381033..118383489-chr5:118406092..118407964,2	MCF-7	breast:
41	chr5:118402216..118405010-chr5:118406769..118409405,2	K562	blood:
42	chr5:118405957..118409296-chr5:118409304..118413767,5	MCF-7	breast:
43	chr5:118369704..118371525-chr5:118389803..118392362,2	MCF-7	breast:
44	chr5:118357582..118358760-chr5:118747481..118748200,3	MCF-7	breast:
45	chr5:118394607..118397338-chr5:118401686..118403796,2	K562	blood:
46	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:
47	chr22:21979247..21980981-chr5:118401357..118402877,3	K562	blood:
48	chr5:118357160..118359907-chr5:118603560..118606226,2	MCF-7	breast:
49	chr5:118385813..118388294-chr5:118389769..118394686,4	K562	blood:
50	chr5:118443410..118445340-chr5:118449495..118451851,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-1	chr5:118355772-118355935	NONHSAT103410
2	lnc-DMXL1-5	chr5:118437630-118437905	NONHSAT103419
3	lnc-DTWD2-1	chr5:118368234-118368442	ucscGeneNc_uc003ksb_2
4	lnc-DTWD2-1	chr5:118397864-118397940	ucscGeneNc_uc003ksb_2
5	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
6	lnc-DTWD2-1	chr5:118355610-118355935	ENSG00000249494.1
7	lnc-DTWD2-1	chr5:118406501-118406556	ENSG00000249494.1
8	lnc-DTWD2-1	chr5:118359906-118359967	ucscGeneNc_uc003ksb_2
9	lnc-DTWD2-1	chr5:118369965-118370041	ENSG00000249494.1
10	lnc-DTWD2-1	chr5:118383671-118383834	ucscGeneNc_uc003ksb_2
11	lnc-DMXL1-5	chr5:118436296-118436366	NONHSAT103419
12	lnc-DTWD2-1	chr5:118369965-118370041	NONHSAT103410
13	lnc-DTWD2-1	chr5:118373313-118373363	ENSG00000249494.1
14	lnc-DMXL1-5	chr5:118439823-118439975	NONHSAT103415
15	lnc-DMXL1-5	chr5:118380565-118380673	NONHSAT103415
16	lnc-DTWD2-1	chr5:118370352-118370455	ucscGeneNc_uc003ksb_2
17	lnc-DMXL1-5	chr5:118433674-118433799	NONHSAT103415
18	lnc-DTWD2-1	chr5:118405183-118406899	NONHSAT103417
19	lnc-DTWD2-1	chr5:118365057-118365192	ucscGeneNc_uc003ksb_2
20	lnc-DTWD2-1	chr5:118373313-118373361	NONHSAT103410
21	lnc-DTWD2-1	chr5:118370668-118370799	ucscGeneNc_uc003ksb_2
22	lnc-DMXL1-5	chr5:118373467-118373583	NONHSAT103415
23	lnc-DTWD2-1	chr5:118401212-118401260	ucscGeneNc_uc003ksb_2
24	lnc-DMXL1-5	chr5:118437630-118437701	NONHSAT103415
25	lnc-DTWD2-1	chr5:118368885-118370224	ucscGeneNc_uc003ksb_2
26	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
27	lnc-DTWD2-1	chr5:118406501-118406585	ENSG00000249494.1

No data

Variant related genes	Relation type
ENSG00000249494	TF binding region
ENSG00000239011	TF binding region
DMXL1	TF binding region
ENSG00000249494	CpG island
ENSG00000239011	CpG island
DMXL1	CpG island
ENSG00000239011	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000250928	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000132182	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000145779	chromatin interactions

Extended variants
information (count: 3745 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3745 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150048766	chr5:118355370-118355371	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565216695	chr5:118355421-118355422	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527567605	chr5:118355424-118355425	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541290873	chr5:118355427-118355428	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561079022	chr5:118355428-118355429	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35953516	chr5:118355442-118355443	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78105013	chr5:118355449-118355450	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549500939	chr5:118355494-118355495	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569364968	chr5:118355516-118355517	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75352274	chr5:118355544-118355545	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11952762	chr5:118355551-118355552	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4461663	chr5:118355562-118355563	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571590196	chr5:118355586-118355587	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368745805	chr5:118355594-118355595	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147747084	chr5:118355608-118355609	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554407552	chr5:118355660-118355661	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs567524873	chr5:118355671-118355672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs141060163	chr5:118355674-118355675	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs80238303	chr5:118355696-118355697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs115364880	chr5:118355723-118355724	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs185613626	chr5:118355763-118355764	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs76563261	chr5:118355814-118355815	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs189633592	chr5:118355815-118355816	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs551455330	chr5:118355848-118355849	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs540976658	chr5:118355858-118355859	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs111332761	chr5:118355938-118355939	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79003649	chr5:118355952-118355953	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79110250	chr5:118355953-118355954	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62374096	chr5:118355955-118355956	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147883871	chr5:118355982-118355983	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71583097	chr5:118355984-118355985	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543627286	chr5:118356000-118356001	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374797736	chr5:118356035-118356036	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181019213	chr5:118356040-118356041	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187347780	chr5:118356099-118356100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191823298	chr5:118356140-118356141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184060260	chr5:118356142-118356143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148950704	chr5:118356168-118356169	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567607010	chr5:118356283-118356284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200098807	chr5:118356304-118356305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78163450	chr5:118356306-118356307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373205689	chr5:118356307-118356308	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533450791	chr5:118356310-118356311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60217451	chr5:118356325-118356326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188259843	chr5:118356328-118356329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549937833	chr5:118356333-118356334	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570201459	chr5:118356372-118356373	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538369948	chr5:118356396-118356397	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565682887	chr5:118356398-118356399	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs111649495	chr5:118356415-118356416	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	disease

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118350600-118360000	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:118351600-118359800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:118353400-118358600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:118353800-118355400	Weak transcription	GM12878-XiMat	blood
5	chr5:118354200-118356200	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:118354400-118356000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:118354400-118356200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:118354400-118357000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:118354800-118356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:118354800-118356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:118355000-118356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:118355000-118356000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:118355200-118355600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr5:118355200-118367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:118355400-118356000	Enhancers	GM12878-XiMat	blood
16	chr5:118355600-118360000	Enhancers	Primary B cells from cord blood	blood
17	chr5:118356000-118357800	Weak transcription	GM12878-XiMat	blood
18	chr5:118356000-118358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:118356000-118359600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:118356200-118357000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:118356200-118359200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:118356600-118358200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:118357000-118357200	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:118357000-118357400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:118357000-118357800	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:118357200-118357800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:118357400-118358400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:118357600-118358000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:118357600-118358400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:118357800-118358000	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:118357800-118359400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:118357800-118359600	Enhancers	Stomach Mucosa	stomach
33	chr5:118357800-118359600	Enhancers	GM12878-XiMat	blood
34	chr5:118358000-118358600	Enhancers	Fetal Thymus	thymus
35	chr5:118358000-118359200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:118358200-118358600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:118358200-118359200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:118358400-118358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:118358400-118359000	Weak transcription	Thymus	Thymus
40	chr5:118358600-118359000	Weak transcription	Fetal Thymus	thymus
41	chr5:118358600-118359000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:118358600-118359400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr5:118359000-118359600	Enhancers	Fetal Thymus	thymus
44	chr5:118359000-118359600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:118359200-118359400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:118359200-118359400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:118359200-118359400	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:118359400-118359600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:118360000-118363400	Weak transcription	Primary B cells from cord blood	blood
50	chr5:118360000-118363800	Weak transcription	Primary B cells from peripheral blood	blood

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