Variant report

Variant	nsv537441
Chromosome Location	chr4:187768295-188338413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2455)
CpG islands
(count:5559)
Chromatin interactive
region (count:114)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2455 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187867829-187868202	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:187857788-187858659	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:187868629-187868925	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:187853628-187853802	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:188172278-188172408	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:187861751-187861928	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:187821710-187822121	K562	blood:	n/a	n/a
8	ARID3A	chr4:187773395-187773671	K562	blood:	n/a	n/a
9	ARID3A	chr4:187825273-187825725	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:187822170-187822409	HepG2	liver:	n/a	n/a
11	ATF1	chr4:187821710-187821974	K562	blood:	n/a	n/a
12	ATF1	chr4:187861013-187861279	K562	blood:	n/a	n/a
13	ATF2	chr4:187774172-187774562	GM12878	blood:	n/a	n/a
14	ATF3	chr4:187821648-187821997	K562	blood:	n/a	n/a
15	BACH1	chr4:188008250-188008420	K562	blood:	n/a	n/a
16	BACH1	chr4:187821739-187821994	K562	blood:	n/a	n/a
17	BACH1	chr4:188129816-188130163	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:188068202-188068264	K562	blood:	n/a	n/a
19	BACH1	chr4:188129825-188130039	K562	blood:	n/a	n/a
20	BACH1	chr4:187938365-187938620	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:187773306-187773479	K562	blood:	n/a	n/a
22	BACH1	chr4:188009756-188009863	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr4:187809039-187809189	K562	blood:	n/a	n/a
24	BACH1	chr4:187870229-187870474	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr4:187810322-187810608	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr4:187803433-187803784	GM12878	blood:	n/a	n/a
27	BATF	chr4:187773931-187774451	GM12878	blood:	n/a	chr4:187774310-187774318
28	BATF	chr4:187825325-187825626	GM12878	blood:	n/a	n/a
29	BCL11A	chr4:187774188-187774596	GM12878	blood:	n/a	n/a
30	BCL3	chr4:188193059-188193371	GM12878	blood:	n/a	n/a
31	BHLHE40	chr4:187810283-187810632	K562	blood:	n/a	n/a
32	BHLHE40	chr4:188162982-188163057	A549	lung:	n/a	n/a
33	BHLHE40	chr4:187821833-187821839	K562	blood:	n/a	n/a
34	BHLHE40	chr4:187814906-187815103	HepG2	liver:	n/a	n/a
35	BHLHE40	chr4:187867852-187868124	HepG2	liver:	n/a	n/a
36	BHLHE40	chr4:187807407-187807741	HepG2	liver:	n/a	chr4:187807564-187807573
37	BHLHE40	chr4:187831637-187831639	K562	blood:	n/a	n/a
38	BHLHE40	chr4:188078752-188079118	K562	blood:	n/a	n/a
39	CBX3	chr4:187853176-187854694	HCT-116	colon:	n/a	n/a
40	CBX3	chr4:188301159-188301792	HCT-116	colon:	n/a	n/a
41	CBX3	chr4:187780613-187780956	K562	blood:	n/a	n/a
42	CBX3	chr4:187802228-187803784	HCT-116	colon:	n/a	n/a
43	CBX3	chr4:187771708-187772066	K562	blood:	n/a	n/a
44	CBX3	chr4:187810125-187810719	K562	blood:	n/a	n/a
45	CBX3	chr4:187810251-187810596	K562	blood:	n/a	n/a
46	CBX3	chr4:187857745-187858737	HCT-116	colon:	n/a	n/a
47	CBX3	chr4:187811697-187812195	K562	blood:	n/a	n/a
48	CBX3	chr4:187850180-187850774	HCT-116	colon:	n/a	n/a
49	CBX3	chr4:187821529-187822040	K562	blood:	n/a	n/a
50	CBX3	chr4:187853152-187854568	HCT-116	colon:	n/a	n/a

(count:5559 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187981566-187981616	MCF-7	breast:	n/a
2	chr4:187851333-187851383	HRPEpiC	eye:	n/a
3	chr4:187776068-187776118	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:188139877-188139927	HUVEC	blood vessel:	n/a
5	chr4:187881888-187881938	HAEpiC	amniotic membrane:	n/a
6	chr4:187927166-187927216	MCF10A-Er-Src	breast:	n/a
7	chr4:188034964-188035014	HCF	heart:	n/a
8	chr4:188078670-188078720	BJ	skin:	n/a
9	chr4:187981566-187981616	MCF-7	breast:	n/a
10	chr4:187851333-187851383	HRPEpiC	eye:	n/a
11	chr4:187776068-187776118	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:188139877-188139927	HUVEC	blood vessel:	n/a
13	chr4:187881888-187881938	HAEpiC	amniotic membrane:	n/a
14	chr4:187927166-187927216	MCF10A-Er-Src	breast:	n/a
15	chr4:188034964-188035014	HCF	heart:	n/a
16	chr4:188078670-188078720	BJ	skin:	n/a
17	chr4:187810656-187810706	NHDF-neo	bronchial:	n/a
18	chr4:187810502-187810552	NHDF-neo	bronchial:	n/a
19	chr4:187985452-187985502	SK-N-SH_RA	brain:	n/a
20	chr4:187927166-187927216	AG04450	lung:	fetal
21	chr4:188045689-188045739	HAEpiC	amniotic membrane:	n/a
22	chr4:187981566-187981616	K562	blood:	n/a
23	chr4:188046520-188046570	HRPEpiC	eye:	n/a
24	chr4:187959224-187959274	AG04450	lung:	fetal
25	chr4:187891568-187891618	NB4	blood:	n/a
26	chr4:188140222-188140272	GM12878	blood:	n/a
27	chr4:187840611-187840661	HEK293	kidney:	embryo
28	chr4:187894704-187894754	HRCEpiC	kidney:	n/a
29	chr4:187810446-187810496	NHBE	bronchial:	n/a
30	chr4:188157167-188157217	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:187894704-187894754	HMEC	breast:	n/a
32	chr4:187802093-187802143	Hela-S3	cervix:	n/a
33	chr4:188139877-188139927	HepG2	liver:	n/a
34	chr4:188045689-188045739	NT2-D1	testis:	n/a
35	chr4:187891568-187891618	GM12878	blood:	n/a
36	chr4:188149410-188149460	HRE	kidney:	n/a
37	chr4:188256765-188256815	NHBE	bronchial:	n/a
38	chr4:188131622-188131672	BJ	skin:	n/a
39	chr4:188101115-188101165	Hepatocyte	liver:	n/a
40	chr4:187851586-187851636	ProgFib	skin:	n/a
41	chr4:188046444-188046494	HRPEpiC	eye:	n/a
42	chr4:188230390-188230440	SKMC	muscle:	n/a
43	chr4:188314314-188314364	HCT-116	colon:	n/a
44	chr4:187887742-187887792	PFSK-1	brain:	n/a
45	chr4:187840862-187840912	NH-A	brain:	n/a
46	chr4:187840862-187840912	GM12878	blood:	n/a
47	chr4:187810613-187810663	AG09309	skin:	n/a
48	chr4:187851418-187851468	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:187984633-187984683	BJ	skin:	n/a
50	chr4:187851724-187851774	IMR90	lung:	fetal

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:187831408..187833132-chr4:187833213..187835608,2	MCF-7	breast:
2	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
3	chr4:187804949..187807426-chr4:187810593..187812592,2	K562	blood:
4	chr4:187987739..187989795-chr4:187999500..188002033,2	MCF-7	breast:
5	chr4:187646746..187649449-chr4:187824411..187826046,2	MCF-7	breast:
6	chr4:188278385..188280812-chr4:188281318..188282901,2	K562	blood:
7	chr4:188082742..188084382-chr4:188084801..188086705,2	K562	blood:
8	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
9	chr4:187910556..187913594-chr4:187916872..187920065,3	K562	blood:
10	chr4:188177128..188179488-chr4:188187474..188190252,2	MCF-7	breast:
11	chr4:187762414..187767903-chr4:187771825..187775014,7	K562	blood:
12	chr4:187799748..187802550-chr4:187805548..187807456,2	K562	blood:
13	chr4:188016055..188017615-chr4:188020801..188022830,2	MCF-7	breast:
14	chr4:187647203..187650083-chr4:187858614..187861044,2	MCF-7	breast:
15	chr4:188016055..188017615-chr4:188020801..188022830,2	MCF-7	breast:
16	chr4:187811417..187813620-chr4:187839984..187841976,2	K562	blood:
17	chr4:187702948..187705032-chr4:187853740..187855963,2	K562	blood:
18	chr4:187680022..187681982-chr4:187780547..187782844,3	K562	blood:
19	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
20	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
21	chr4:187828658..187830841-chr4:187832726..187835053,2	K562	blood:
22	chr4:187765084..187768724-chr4:187798597..187801696,3	K562	blood:
23	chr4:187939165..187941494-chr4:187941726..187943652,2	K562	blood:
24	chr4:187779063..187781190-chr4:187783722..187786241,2	K562	blood:
25	chr4:187765177..187768069-chr4:187809539..187811310,3	K562	blood:
26	chr4:188127890..188131303-chr4:188136198..188140053,3	K562	blood:
27	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
28	chr4:187987739..187989795-chr4:187999500..188002033,2	MCF-7	breast:
29	chr4:187674672..187677224-chr4:187814028..187816446,2	K562	blood:
30	chr4:187764771..187768253-chr4:187793042..187796524,4	K562	blood:
31	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:
32	chr4:187838828..187841268-chr4:187853169..187855944,2	K562	blood:
33	chr4:188218935..188220617-chr4:188223273..188225640,2	K562	blood:
34	chr4:187756248..187757753-chr4:187804674..187806210,2	K562	blood:
35	chr4:187766677..187768346-chr4:187783424..187785268,2	K562	blood:
36	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
37	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
38	chr4:187766677..187768346-chr4:187783424..187785268,2	K562	blood:
39	chr4:188127890..188130779-chr4:188137377..188140053,2	K562	blood:
40	chr4:188056141..188059135-chr4:188062494..188064650,2	K562	blood:
41	chr4:187789889..187792627-chr4:187802698..187806091,3	K562	blood:
42	chr4:188021348..188024236-chr4:188025948..188027821,2	K562	blood:
43	chr4:187810441..187812946-chr4:187817436..187820166,2	K562	blood:
44	chr4:188083083..188085833-chr4:188087348..188090241,2	MCF-7	breast:
45	chr4:188056141..188059135-chr4:188062494..188064650,2	K562	blood:
46	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
47	chr4:187675507..187677010-chr4:187784284..187786816,2	K562	blood:
48	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
49	chr4:187675582..187678792-chr4:187770496..187774172,4	K562	blood:
50	chr4:187768093..187770928-chr4:187771108..187773724,3	K562	blood:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F11-3	chr4:187980530-187980856	XLOC_003823
2	lnc-F11-2	chr4:187813706-187814137	ENSG00000272218.1
3	lnc-ZFP42-7	chr4:188123217-188123296	XLOC_003825
4	lnc-ZFP42-7	chr4:188123187-188123296	XLOC_003825
5	lnc-FAT1-1	chr4:187917410-187917592	XLOC_004215
6	lnc-ZFP42-5	chr4:188334718-188334865	ENSG00000250620
7	lnc-F11-3	chr4:187980348-187980402	XLOC_003823
8	lnc-ZFP42-6	chr4:188291802-188291929	XLOC_003826
9	lnc-ZFP42-5	chr4:188334716-188334865	NONHSAT099694
10	lnc-F11-4	chr4:187981253-187981417	XLOC_003824
11	lnc-FAT1-2	chr4:188122781-188123084	XLOC_004216
12	lnc-F11-2	chr4:187812123-187812522	ENSG00000250829.2
13	lnc-ZFP42-7	chr4:188123145-188123296	XLOC_003825
14	lnc-ZFP42-13	chr4:188228509-188228694	NONHSAT099691
15	lnc-ZFP42-7	chr4:188133530-188134139	XLOC_003825
16	lnc-FAT1-3	chr4:188225792-188226855	XLOC_004217
17	lnc-ZFP42-7	chr4:188133530-188133630	XLOC_003825
18	lnc-FAT1-3	chr4:188228260-188228423	XLOC_004217
19	lnc-ZFP42-7	chr4:188124136-188124768	XLOC_003825
20	lnc-ZFP42-6	chr4:188292838-188293075	XLOC_003826
21	lnc-ZFP42-7	chr4:188134283-188134753	NONHSAT099688
22	lnc-FAT1-2	chr4:188119427-188119745	XLOC_004216
23	lnc-ZFP42-7	chr4:188129941-188130201	XLOC_003825
24	lnc-F11-3	chr4:187981829-187982019	NONHSAT099680
25	lnc-F11-3	chr4:187981371-187981417	NONHSAT099680
26	lnc-ZFP42-5	chr4:188329695-188330053	NONHSAT099694
27	lnc-ZFP42-7	chr4:188133499-188133581	NONHSAT099688
28	lnc-F11-2	chr4:187813425-187813520	ENSG00000250829.2
29	lnc-ZFP42-7	chr4:188134283-188135298	XLOC_003825
30	lnc-F11-11	chr4:187821694-187821992	NONHSAT099678
31	lnc-F11-3	chr4:187980278-187980644	NONHSAT099680
32	lnc-ZFP42-7	chr4:188123178-188123296	XLOC_003825
33	lnc-ZFP42-6	chr4:188292449-188292580	XLOC_003826
34	lnc-ZFP42-7	chr4:188129941-188130201	XLOC_003825
35	lnc-ZFP42-7	chr4:188134283-188134810	XLOC_003825
36	lnc-ZFP42-13	chr4:188251486-188251546	NONHSAT099691
37	lnc-F11-4	chr4:187981829-187982084	XLOC_003824
38	lnc-ZFP42-7	chr4:188133530-188134139	XLOC_003825
39	lnc-F11-2	chr4:187813425-187813520	ENSG00000250829
40	lnc-ZFP42-7	chr4:188123140-188123296	XLOC_003825
41	lnc-ZFP42-7	chr4:188133984-188134139	NONHSAT099688
42	lnc-ZFP42-13	chr4:188237423-188237596	NONHSAT099691
43	lnc-F11-2	chr4:187812431-187812522	ENSG00000250829
44	lnc-ZFP42-5	chr4:188336464-188337128	NONHSAT099694
45	lnc-FAT1-3	chr4:188230336-188230836	XLOC_004217
46	lnc-ZFP42-5	chr4:188336464-188336851	ENSG00000250620
47	lnc-FAT1-3	chr4:188225237-188225621	XLOC_004217
48	lnc-FAT1-1	chr4:187900644-187900886	XLOC_004215
49	lnc-F11-2	chr4:187812060-187814139	NONHSAT099676
50	lnc-FAT1-1	chr4:187943080-187943127	XLOC_004215

No data

Variant related genes	Relation type
ENSG00000252382	TF binding region
MRPS36P2	TF binding region
ENSG00000250829	TF binding region
ENSG00000250620	TF binding region
ENSG00000272218	TF binding region
ENSG00000250042	TF binding region
ENSG00000249747	TF binding region
ENSG00000250971	TF binding region
ENSG00000249742	TF binding region
ENSG00000250658	TF binding region
ENSG00000252382	CpG island
MRPS36P2	CpG island
ENSG00000250829	CpG island
ENSG00000250620	CpG island
ENSG00000272218	CpG island
ENSG00000250042	CpG island
ENSG00000249747	CpG island
ENSG00000250971	CpG island
ENSG00000249742	CpG island
ENSG00000250658	CpG island
ENSG00000249742	chromatin interactions
ENSG00000249539	chromatin interactions
ENSG00000083857	chromatin interactions
ENSG00000252382	chromatin interactions
ENSG00000250829	chromatin interactions
ANKRD57	miRNA target sites
CCND1	miRNA target sites
UBXN1	miRNA target sites
ZFYVE26	miRNA target sites
OSBPL1A	miRNA target sites
LMNB1	miRNA target sites

Extended variants
information (count: 20157 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20157 , 50 per page) page: 1 2 3 4 5 6 7 ... 404

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200078697	chr4:187768382-187768383	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73876358	chr4:187768453-187768454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372394875	chr4:187768488-187768489	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572955211	chr4:187768506-187768507	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535167537	chr4:187768572-187768573	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187561021	chr4:187768580-187768581	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542640225	chr4:187768593-187768594	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143782769	chr4:187768613-187768614	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147274483	chr4:187768627-187768628	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561592915	chr4:187768631-187768632	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545444398	chr4:187768638-187768639	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529678932	chr4:187768766-187768767	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546570550	chr4:187768792-187768793	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73876359	chr4:187768805-187768806	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113223053	chr4:187768809-187768810	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369025373	chr4:187768845-187768846	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528255564	chr4:187768886-187768887	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568987220	chr4:187768895-187768896	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538031742	chr4:187768915-187768916	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373806853	chr4:187768941-187768942	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548205934	chr4:187768943-187768944	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568317188	chr4:187768980-187768981	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536250510	chr4:187768999-187769000	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552910429	chr4:187769105-187769106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191284829	chr4:187769161-187769162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183773597	chr4:187769167-187769168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558993024	chr4:187769258-187769259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11726252	chr4:187769261-187769262	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544763373	chr4:187769297-187769298	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529154090	chr4:187769298-187769299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561423871	chr4:187769300-187769301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539144559	chr4:187769322-187769323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575143608	chr4:187769378-187769379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528043967	chr4:187769410-187769411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565690009	chr4:187769417-187769418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539616802	chr4:187769448-187769449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560236219	chr4:187769449-187769450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28826385	chr4:187769452-187769453	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28805392	chr4:187769463-187769464	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79394564	chr4:187769522-187769523	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562572003	chr4:187769536-187769537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531430464	chr4:187769564-187769565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs548318828	chr4:187769585-187769586	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533220680	chr4:187769607-187769608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537464219	chr4:187769650-187769651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568273564	chr4:187769678-187769679	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10006400	chr4:187769724-187769725	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200099054	chr4:187769776-187769777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547288887	chr4:187769779-187769780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140454109	chr4:187769783-187769784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Oral cancer	17325662	CNVD
Autism	20808228	CNVD

Chromatin state (count:2205 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187765600-187769000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:187766200-187768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:187766600-187772600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:187767000-187768800	Enhancers	K562	blood
5	chr4:187767000-187770200	Weak transcription	HSMMtube	muscle
6	chr4:187767000-187772400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:187767400-187768600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:187767400-187771600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:187767400-187772200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:187767400-187773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:187767600-187772200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:187768000-187768800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:187768200-187771200	Weak transcription	NHDF-Ad	bronchial
14	chr4:187768600-187768800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
15	chr4:187771200-187771800	ZNF genes & repeats	NHDF-Ad	bronchial
16	chr4:187771600-187772000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:187771800-187774600	Weak transcription	NHDF-Ad	bronchial
18	chr4:187772000-187782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:187772200-187775000	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:187772200-187776400	Enhancers	Fetal Intestine Large	intestine
21	chr4:187772400-187772800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr4:187772400-187773400	Enhancers	Fetal Intestine Small	intestine
23	chr4:187772400-187773800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:187772600-187772800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:187772600-187773400	Enhancers	Small Intestine	intestine
26	chr4:187772600-187773600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:187772800-187773200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr4:187772800-187773400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:187772800-187773600	Enhancers	HMEC	breast
30	chr4:187773000-187773800	Enhancers	NHEK	skin
31	chr4:187773000-187774200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:187773200-187773400	Enhancers	HepG2	liver
33	chr4:187773200-187773800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:187773400-187773800	Weak transcription	Fetal Intestine Small	intestine
35	chr4:187773400-187773800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr4:187773800-187774600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:187773800-187775000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:187773800-187776200	Enhancers	Fetal Intestine Small	intestine
39	chr4:187774000-187775000	Enhancers	HepG2	liver
40	chr4:187774600-187775000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:187774600-187776400	Enhancers	NHDF-Ad	bronchial
42	chr4:187775400-187776000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:187775600-187776000	Enhancers	Fetal Heart	heart
44	chr4:187775600-187777800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:187776600-187778200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:187778200-187779200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:187779200-187779400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:187780600-187783400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:187782000-187783600	Enhancers	Hela-S3	cervix
50	chr4:187782200-187782800	Enhancers	Osteobl	bone

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