Variant report

Variant	nsv882774
Chromosome Location	chr5:118325429-118553470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1949)
CpG islands
(count:976)
Chromatin interactive
region (count:130)
LncRNA
region (count:42)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1949 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118399444-118399673	K562	blood:	n/a	n/a
2	ARID3A	chr5:118516050-118516311	K562	blood:	n/a	n/a
3	ARID3A	chr5:118344676-118345351	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:118409996-118410235	K562	blood:	n/a	n/a
5	ARID3A	chr5:118503944-118504095	K562	blood:	n/a	n/a
6	ARID3A	chr5:118357701-118357973	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:118405742-118406993	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:118395358-118395970	K562	blood:	n/a	n/a
9	ARID3A	chr5:118373367-118373495	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:118325518-118325953	K562	blood:	n/a	n/a
11	ARID3A	chr5:118407368-118407449	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:118406121-118406777	K562	blood:	n/a	n/a
13	ARID3A	chr5:118399250-118399579	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:118505094-118505244	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:118414951-118415381	K562	blood:	n/a	n/a
16	ARID3A	chr5:118371810-118372099	K562	blood:	n/a	n/a
17	ATF1	chr5:118494181-118494265	K562	blood:	n/a	n/a
18	ATF1	chr5:118515900-118516243	K562	blood:	n/a	n/a
19	ATF1	chr5:118364378-118364510	K562	blood:	n/a	n/a
20	ATF1	chr5:118410040-118410119	K562	blood:	n/a	n/a
21	ATF1	chr5:118371867-118372145	K562	blood:	n/a	n/a
22	ATF1	chr5:118395450-118395887	K562	blood:	n/a	n/a
23	ATF1	chr5:118405927-118406962	K562	blood:	n/a	n/a
24	ATF1	chr5:118399473-118399753	K562	blood:	n/a	n/a
25	ATF2	chr5:118409921-118410605	GM12878	blood:	n/a	n/a
26	ATF2	chr5:118409872-118410675	GM12878	blood:	n/a	n/a
27	ATF2	chr5:118366532-118368054	GM12878	blood:	n/a	n/a
28	ATF2	chr5:118406032-118406975	GM12878	blood:	n/a	n/a
29	ATF2	chr5:118366666-118368003	GM12878	blood:	n/a	n/a
30	ATF2	chr5:118406159-118407169	GM12878	blood:	n/a	n/a
31	ATF3	chr5:118367697-118367907	K562	blood:	n/a	n/a
32	ATF3	chr5:118523560-118523863	GM12878	blood:	n/a	chr5:118523740-118523749
33	ATF3	chr5:118367678-118367927	K562	blood:	n/a	n/a
34	ATF3	chr5:118405986-118406901	A549	lung:	n/a	n/a
35	ATF3	chr5:118371855-118372194	K562	blood:	n/a	n/a
36	BACH1	chr5:118407174-118407431	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr5:118406517-118406966	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:118414944-118415775	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:118385636-118385867	H1-hESC	embryonic stem cell:	n/a	n/a
40	BATF	chr5:118367591-118367989	GM12878	blood:	n/a	n/a
41	BATF	chr5:118415147-118415603	GM12878	blood:	n/a	n/a
42	BATF	chr5:118399470-118399698	GM12878	blood:	n/a	n/a
43	BATF	chr5:118409998-118410330	GM12878	blood:	n/a	n/a
44	BATF	chr5:118366619-118367331	GM12878	blood:	n/a	chr5:118367009-118367020
45	BATF	chr5:118410023-118410530	GM12878	blood:	n/a	n/a
46	BATF	chr5:118415197-118415534	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:118367108-118367373	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:118367023-118367364	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:118410073-118410262	GM12878	blood:	n/a	chr5:118410231-118410240
50	BCL11A	chr5:118415243-118415608	GM12878	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118406938-118406988	AG09309	skin:	n/a
2	chr5:118416915-118416965	HAEpiC	amniotic membrane:	n/a
3	chr5:118406938-118406988	NT2-D1	testis:	n/a
4	chr5:118367693-118367743	RPTEC	kidney:	n/a
5	chr5:118407525-118407575	HRCEpiC	kidney:	n/a
6	chr5:118406365-118406415	HEK293	kidney:	embryo
7	chr5:118406938-118406988	HCPEpiC	choroid plexus:	n/a
8	chr5:118406562-118406612	GM19239	blood:	n/a
9	chr5:118406749-118406799	HCPEpiC	choroid plexus:	n/a
10	chr5:118406749-118406799	AG09319	gingival:	n/a
11	chr5:118406959-118407009	HEEpiC	esophagus:	n/a
12	chr5:118407258-118407308	HCF	heart:	n/a
13	chr5:118406938-118406988	GM12878	blood:	n/a
14	chr5:118406365-118406415	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:118367693-118367743	NHBE	bronchial:	n/a
16	chr5:118367693-118367743	HUVEC	blood vessel:	n/a
17	chr5:118406970-118407020	HRPEpiC	eye:	n/a
18	chr5:118407235-118407285	HRPEpiC	eye:	n/a
19	chr5:118406562-118406612	HEEpiC	esophagus:	n/a
20	chr5:118407037-118407087	NB4	blood:	n/a
21	chr5:118407037-118407087	HRPEpiC	eye:	n/a
22	chr5:118407235-118407285	GM12892	blood:	n/a
23	chr5:118406938-118406988	GM06990	blood:	n/a
24	chr5:118406749-118406799	HEEpiC	esophagus:	n/a
25	chr5:118407235-118407285	HUVEC	blood vessel:	n/a
26	chr5:118502651-118502701	NHDF-neo	bronchial:	n/a
27	chr5:118407258-118407308	AG09309	skin:	n/a
28	chr5:118406959-118407009	HMEC	breast:	n/a
29	chr5:118406749-118406799	SK-N-MC	brain:	n/a
30	chr5:118406759-118406809	HEK293	kidney:	embryo
31	chr5:118416915-118416965	BJ	skin:	n/a
32	chr5:118407039-118407089	CMK	blood:	n/a
33	chr5:118406938-118406988	K562	blood:	n/a
34	chr5:118407525-118407575	BE2_C	brain:	n/a
35	chr5:118407258-118407308	HIPEpiC	eye:	n/a
36	chr5:118367693-118367743	HepG2	liver:	n/a
37	chr5:118407235-118407285	NHBE	bronchial:	n/a
38	chr5:118406938-118406988	H1-hESC	embryonic stem cell:	embryo
39	chr5:118406970-118407020	HNPCEpiC	eye:	n/a
40	chr5:118502651-118502701	Caco-2	colon:	n/a
41	chr5:118367693-118367743	SK-N-SH	brain:	n/a
42	chr5:118406936-118406986	PrEC	prostate:	n/a
43	chr5:118406959-118407009	ProgFib	skin:	n/a
44	chr5:118416915-118416965	HNPCEpiC	eye:	n/a
45	chr5:118407039-118407089	GM12892	blood:	n/a
46	chr5:118406759-118406809	Hela-S3	cervix:	n/a
47	chr5:118406365-118406415	HRCEpiC	kidney:	n/a
48	chr5:118406759-118406809	HCM	heart:	n/a
49	chr5:118407037-118407087	AG04449	skin:	fetal
50	chr5:118407037-118407087	AoSMC	blood vessel:	n/a

(count:130 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:118394607..118397338-chr5:118401686..118403796,2	K562	blood:
2	chr3:13461141..13461830-chr5:118406143..118406866,2	Hela-S3	cervix:
3	chr5:118385813..118388294-chr5:118389769..118394686,4	K562	blood:
4	chr5:118442391..118447973-chr5:118448057..118454025,9	K562	blood:
5	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:
6	chr5:118442538..118444845-chr5:118444949..118447296,2	K562	blood:
7	chr5:118368716..118371473-chr5:118745001..118746920,2	K562	blood:
8	chr5:118393227..118394919-chr5:118405422..118407131,2	MCF-7	breast:
9	chr12:56435851..56438826-chr5:118405352..118408278,2	MCF-7	breast:
10	chr5:118551365..118552971-chr5:118559798..118561455,2	K562	blood:
11	chr5:118508746..118512101-chr5:118513302..118516471,4	K562	blood:
12	chr5:118482277..118484558-chr5:118486167..118488400,3	K562	blood:
13	chr5:118346442..118349626-chr5:118352626..118357171,4	K562	blood:
14	chr5:118415616..118417740-chr5:118600067..118602902,2	MCF-7	breast:
15	chr5:118357331..118357914-chr5:118771263..118771765,2	K562	blood:
16	chr5:118482277..118484558-chr5:118486167..118488400,3	K562	blood:
17	chr5:118402216..118405010-chr5:118406769..118409405,2	K562	blood:
18	chr5:118322908..118325429-chr5:118357118..118359882,3	MCF-7	breast:
19	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
20	chr5:118375214..118377898-chr5:118378275..118380615,2	MCF-7	breast:
21	chr5:118508746..118512101-chr5:118513302..118516471,4	K562	blood:
22	chr5:118381033..118383489-chr5:118406092..118407964,2	MCF-7	breast:
23	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
24	chr5:118510458..118512160-chr5:118512976..118516180,3	K562	blood:
25	chr5:118479883..118482133-chr5:118688708..118691620,2	K562	blood:
26	chr5:118323366..118325416-chr5:118334115..118336361,2	K562	blood:
27	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
28	chr5:118443410..118445340-chr5:118449495..118451851,2	K562	blood:
29	chr5:118323401..118324963-chr5:118329000..118330937,2	MCF-7	breast:
30	chr5:118549930..118551447-chr5:118556250..118558321,2	K562	blood:
31	chr5:118352346..118354037-chr5:118405727..118408430,2	K562	blood:
32	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:
33	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:
34	chr5:118463365..118465744-chr5:118468945..118471414,3	K562	blood:
35	chr5:118348689..118350989-chr5:118368039..118370331,2	MCF-7	breast:
36	chr5:118478650..118480412-chr5:118485694..118488311,3	K562	blood:
37	chr5:118406683..118408484-chr5:118448040..118450335,2	MCF-7	breast:
38	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:
39	chr5:118406208..118409819-chr5:118421498..118424768,4	MCF-7	breast:
40	chr5:118405957..118409296-chr5:118409304..118413767,5	MCF-7	breast:
41	chr5:118503506..118505330-chr5:118525953..118528174,2	K562	blood:
42	chr5:118499661..118503036-chr5:118503421..118506608,3	K562	blood:
43	chr5:118323277..118326022-chr5:118603985..118605806,3	MCF-7	breast:
44	chr5:118547822..118550227-chr5:118558352..118560676,2	K562	blood:
45	chr5:118510458..118512160-chr5:118512976..118516180,3	K562	blood:
46	chr22:21979247..21980981-chr5:118401357..118402877,3	K562	blood:
47	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:
48	chr5:118357259..118357861-chr5:118747519..118748249,2	K562	blood:
49	chr5:118378371..118379918-chr5:118381011..118383636,2	K562	blood:
50	chr5:118357160..118359907-chr5:118603560..118606226,2	MCF-7	breast:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-1	chr5:118355610-118355935	ENSG00000249494.1
2	lnc-DTWD2-1	chr5:118405183-118406899	NONHSAT103417
3	lnc-DTWD2-7	chr5:118463435-118464139	NONHSAT103421
4	lnc-DTWD2-1	chr5:118369965-118370041	ENSG00000249494.1
5	lnc-DTWD2-1	chr5:118369965-118370041	NONHSAT103410
6	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
7	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
8	lnc-DTWD2-1	chr5:118332007-118332068	NONHSAT103410
9	lnc-DTWD2-1	chr5:118368234-118368442	ucscGeneNc_uc003ksb_2
10	lnc-DTWD2-1	chr5:118342769-118342900	ENSG00000249494.1
11	lnc-DTWD2-1	chr5:118342042-118342325	ENSG00000249494.1
12	lnc-DMXL1-5	chr5:118437630-118437905	NONHSAT103419
13	lnc-DTWD2-1	chr5:118340335-118340543	NONHSAT103410
14	lnc-DMXL1-5	chr5:118433674-118433799	NONHSAT103415
15	lnc-DTWD2-1	chr5:118342453-118342556	NONHSAT103410
16	lnc-DTWD2-1	chr5:118340986-118342325	NONHSAT103410
17	lnc-DTWD2-1	chr5:118370668-118370799	ucscGeneNc_uc003ksb_2
18	lnc-DMXL1-6	chr5:118347166-118347751	NONHSAT103412
19	lnc-DMXL1-5	chr5:118437630-118437701	NONHSAT103415
20	lnc-DTWD2-1	chr5:118355772-118355935	NONHSAT103410
21	lnc-DTWD2-1	chr5:118397864-118397940	ucscGeneNc_uc003ksb_2
22	lnc-DTWD2-1	chr5:118359906-118359967	ucscGeneNc_uc003ksb_2
23	lnc-DTWD2-1	chr5:118342453-118342556	ENSG00000249494.1
24	lnc-DTWD2-1	chr5:118347498-118347773	ENSG00000249494.1
25	lnc-DTWD2-1	chr5:118342769-118342900	NONHSAT103410
26	lnc-DTWD2-1	chr5:118368885-118370224	ucscGeneNc_uc003ksb_2
27	lnc-DTWD2-1	chr5:118373313-118373361	NONHSAT103410
28	lnc-TNFAIP8-8	chr5:118463897-118464783	NONHSAT103422
29	lnc-DTWD2-1	chr5:118337158-118337293	NONHSAT103410
30	lnc-DTWD2-1	chr5:118401212-118401260	ucscGeneNc_uc003ksb_2
31	lnc-DMXL1-5	chr5:118436296-118436366	NONHSAT103419
32	lnc-DTWD2-7	chr5:118462477-118463042	NONHSAT103421
33	lnc-DTWD2-1	chr5:118383671-118383834	ucscGeneNc_uc003ksb_2
34	lnc-DMXL1-5	chr5:118439823-118439975	NONHSAT103415
35	lnc-DTWD2-8	chr5:118468346-118468577	NONHSAT103423
36	lnc-DMXL1-5	chr5:118373467-118373583	NONHSAT103415
37	lnc-DTWD2-1	chr5:118406501-118406585	ENSG00000249494.1
38	lnc-DTWD2-1	chr5:118370352-118370455	ucscGeneNc_uc003ksb_2
39	lnc-DMXL1-5	chr5:118380565-118380673	NONHSAT103415
40	lnc-DTWD2-1	chr5:118373313-118373363	ENSG00000249494.1
41	lnc-DTWD2-1	chr5:118365057-118365192	ucscGeneNc_uc003ksb_2
42	lnc-DTWD2-1	chr5:118406501-118406556	ENSG00000249494.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5706	chr5:118490341-118490362	MIMAT0022500

No data

Variant related genes	Relation type
ENSG00000249494	TF binding region
DTWD2	TF binding region
LAMTOR3P2	TF binding region
ENSG00000239011	TF binding region
ENSG00000248885	TF binding region
RNU6-701P	TF binding region
ENSG00000250928	TF binding region
MIR5706	TF binding region
DMXL1	TF binding region
ENSG00000250678	TF binding region
RNU6-373P	TF binding region
ENSG00000249494	CpG island
DTWD2	CpG island
LAMTOR3P2	CpG island
ENSG00000239011	CpG island
ENSG00000248885	CpG island
RNU6-701P	CpG island
ENSG00000250928	CpG island
MIR5706	CpG island
DMXL1	CpG island
ENSG00000250678	CpG island
RNU6-373P	CpG island
ENSG00000132182	chromatin interactions
ENSG00000248979	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000250928	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000239011	chromatin interactions
ENSG00000248885	chromatin interactions
ENSG00000133835	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000092208	chromatin interactions
ENSG00000197728	chromatin interactions

Extended variants
information (count: 9625 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:9625 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs299208	chr5:118325429-118325430	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113035481	chr5:118325434-118325435	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs558378559	chr5:118325485-118325486	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs62374092	chr5:118325494-118325495	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145767096	chr5:118325525-118325526	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs553504377	chr5:118325527-118325528	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs375590849	chr5:118325542-118325543	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555488700	chr5:118325545-118325546	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs573553424	chr5:118325560-118325561	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs542239452	chr5:118325592-118325593	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs562838274	chr5:118325599-118325600	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs373814412	chr5:118325656-118325657	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs199506762	chr5:118325673-118325674	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs145584629	chr5:118325697-118325698	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs371374782	chr5:118325703-118325704	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs575923268	chr5:118325775-118325776	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs115976319	chr5:118325783-118325784	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs140634312	chr5:118325805-118325806	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs374990987	chr5:118325897-118325898	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs533264215	chr5:118325905-118325906	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs573833787	chr5:118325926-118325927	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs547039995	chr5:118325935-118325936	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs191672519	chr5:118325949-118325950	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs529322300	chr5:118325950-118325951	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs549098175	chr5:118325977-118325978	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs184179696	chr5:118325984-118325985	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs144096932	chr5:118325991-118325992	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs186626826	chr5:118325996-118325997	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs571835231	chr5:118326019-118326020	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs544179532	chr5:118326028-118326029	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs533897144	chr5:118326036-118326037	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs976586	chr5:118326072-118326073	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs573640626	chr5:118326159-118326160	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs146493537	chr5:118326171-118326172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs141095411	chr5:118326185-118326186	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs72784056	chr5:118326195-118326196	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544831439	chr5:118326208-118326209	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs544867783	chr5:118326232-118326233	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs558348942	chr5:118326282-118326283	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs559790503	chr5:118326354-118326355	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs540852158	chr5:118326391-118326392	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs377245806	chr5:118326407-118326408	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs191579157	chr5:118326427-118326428	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs529365161	chr5:118326429-118326430	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs543009921	chr5:118326430-118326431	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs117251895	chr5:118326449-118326450	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs532061210	chr5:118326462-118326463	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs552074902	chr5:118326477-118326478	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs143192517	chr5:118326502-118326503	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs148185615	chr5:118326507-118326508	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD

Chromatin state (count:4294 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118324800-118325800	Enhancers	Primary B cells from cord blood	blood
2	chr5:118324800-118325800	Weak transcription	Placenta	Placenta
3	chr5:118324800-118325800	Weak transcription	Small Intestine	intestine
4	chr5:118324800-118326000	Enhancers	Fetal Heart	heart
5	chr5:118324800-118326200	Flanking Active TSS	K562	blood
6	chr5:118324800-118326800	Enhancers	Stomach Mucosa	stomach
7	chr5:118324800-118327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:118325000-118325600	Enhancers	Dnd41	blood
9	chr5:118325000-118325800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:118325000-118326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:118325000-118326000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:118325000-118326000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:118325000-118326200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:118325000-118326200	Weak transcription	NHEK	skin
15	chr5:118325000-118326400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:118325400-118325800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118325400-118326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:118325800-118326000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:118325800-118326400	Enhancers	Placenta	Placenta
20	chr5:118325800-118326400	Enhancers	Small Intestine	intestine
21	chr5:118325800-118326600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:118326000-118326800	Enhancers	Fetal Intestine Large	intestine
23	chr5:118326000-118327000	Enhancers	Fetal Intestine Small	intestine
24	chr5:118326200-118326400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118326200-118326400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:118326200-118326800	Enhancers	K562	blood
27	chr5:118326200-118326800	Enhancers	NHEK	skin
28	chr5:118326400-118326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:118326400-118326600	Enhancers	HMEC	breast
30	chr5:118326400-118326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:118326600-118326800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:118326600-118326800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:118330600-118331200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr5:118331800-118333800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:118339800-118341800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:118341600-118341800	Enhancers	Pancreas	Pancrea
37	chr5:118341800-118348600	Weak transcription	Pancreas	Pancrea
38	chr5:118342400-118343000	Enhancers	HepG2	liver
39	chr5:118342600-118342800	Enhancers	Liver	Liver
40	chr5:118343000-118344000	Weak transcription	Liver	Liver
41	chr5:118343000-118344200	Weak transcription	HepG2	liver
42	chr5:118344000-118346200	Enhancers	Liver	Liver
43	chr5:118344200-118345800	Enhancers	Fetal Intestine Large	intestine
44	chr5:118344200-118346200	Enhancers	Fetal Intestine Small	intestine
45	chr5:118344200-118346200	Enhancers	HepG2	liver
46	chr5:118344400-118344600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:118344600-118345800	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:118344800-118345800	Enhancers	Stomach Mucosa	stomach
49	chr5:118345000-118345400	Enhancers	A549	lung
50	chr5:118346800-118347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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