Variant report

Variant	nsv1067621
Chromosome Location	chr5:117102544-118036352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2449)
CpG islands
(count:794)
Chromatin interactive
region (count:104)
LncRNA
region (count:85)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2449 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:117884442-117884668	HepG2	liver:	n/a	n/a
2	ATF1	chr5:117540315-117540489	K562	blood:	n/a	n/a
3	ATF1	chr5:117330226-117330345	K562	blood:	n/a	n/a
4	ATF2	chr5:117335508-117336206	GM12878	blood:	n/a	n/a
5	ATF2	chr5:117335558-117336122	GM12878	blood:	n/a	n/a
6	ATF2	chr5:117572082-117572630	GM12878	blood:	n/a	n/a
7	BACH1	chr5:117353646-117353923	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:117451659-117451783	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:117458750-117458850	K562	blood:	n/a	n/a
10	BACH1	chr5:117661095-117661110	K562	blood:	n/a	n/a
11	BACH1	chr5:117188782-117188783	K562	blood:	n/a	n/a
12	BACH1	chr5:117647727-117647789	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:117462069-117462133	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr5:117753305-117753649	GM12878	blood:	n/a	n/a
15	BATF	chr5:117335582-117335977	GM12878	blood:	n/a	n/a
16	BATF	chr5:117753385-117753613	GM12878	blood:	n/a	n/a
17	BATF	chr5:117335560-117336178	GM12878	blood:	n/a	n/a
18	BATF	chr5:117966281-117966527	GM12878	blood:	n/a	chr5:117966409-117966419 chr5:117966408-117966419
19	BATF	chr5:117620020-117620314	GM12878	blood:	n/a	n/a
20	BATF	chr5:117619990-117620322	GM12878	blood:	n/a	n/a
21	BATF	chr5:118034787-118034986	GM12878	blood:	n/a	chr5:118034906-118034917
22	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
23	BCL3	chr5:118025299-118025601	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:117335763-117336056	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:117934828-117934953	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:117572143-117572515	GM12878	blood:	n/a	n/a
28	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
29	BRCA1	chr5:117359629-117359739	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr5:117225271-117225273	GM12878	blood:	n/a	n/a
31	BRCA1	chr5:117357826-117357845	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr5:117968451-117968509	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr5:117192690-117192791	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr5:117587070-117587579	HCT-116	colon:	n/a	n/a
37	CBX3	chr5:117461853-117462358	HCT-116	colon:	n/a	n/a
38	CCNT2	chr5:117173830-117173997	K562	blood:	n/a	n/a
39	CCNT2	chr5:117264356-117264536	K562	blood:	n/a	n/a
40	CEBPB	chr5:117783848-117784184	HepG2	liver:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
41	CEBPB	chr5:117627601-117627904	IMR90	lung:	n/a	chr5:117627762-117627773
42	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
43	CEBPB	chr5:117898380-117898661	K562	blood:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
44	CEBPB	chr5:117365167-117365496	A549	lung:	n/a	chr5:117365331-117365342 chr5:117365352-117365360
45	CEBPB	chr5:117410099-117410440	A549	lung:	n/a	chr5:117410259-117410270
46	CEBPB	chr5:117581099-117581191	K562	blood:	n/a	chr5:117581160-117581171
47	CEBPB	chr5:117499596-117499835	HepG2	liver:	n/a	chr5:117499709-117499722 chr5:117499668-117499681 chr5:117499710-117499721 chr5:117499709-117499720
48	CEBPB	chr5:117168511-117168821	IMR90	lung:	n/a	chr5:117168641-117168652
49	CEBPB	chr5:117376262-117376565	H1-hESC	embryonic stem cell:	n/a	chr5:117376387-117376400 chr5:117376389-117376398 chr5:117376387-117376400 chr5:117376387-117376398 chr5:117376387-117376400 chr5:117376389-117376398 chr5:117376388-117376399 chr5:117376389-117376398 chr5:117376389-117376398
50	CEBPB	chr5:117238164-117238250	A549	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117380176-117380226	AG10803	skin:	n/a
2	chr5:117380176-117380226	AG10803	skin:	n/a
3	chr5:117786381-117786431	A549	lung:	n/a
4	chr5:117964718-117964768	HUVEC	blood vessel:	n/a
5	chr5:117543401-117543451	LNCaP	prostate:	n/a
6	chr5:117964718-117964768	SK-N-MC	brain:	n/a
7	chr5:117617841-117617891	SK-N-MC	brain:	n/a
8	chr5:117543681-117543731	CMK	blood:	n/a
9	chr5:117822219-117822269	NH-A	brain:	n/a
10	chr5:117543681-117543731	HCF	heart:	n/a
11	chr5:117645500-117645550	HMEC	breast:	n/a
12	chr5:117543681-117543731	HRE	kidney:	n/a
13	chr5:117618514-117618564	HCT-116	colon:	n/a
14	chr5:117543401-117543451	BJ	skin:	n/a
15	chr5:117532041-117532091	LNCaP	prostate:	n/a
16	chr5:117964718-117964768	T-47D	breast:	n/a
17	chr5:117964718-117964768	Hepatocyte	liver:	n/a
18	chr5:117380176-117380226	HCM	heart:	n/a
19	chr5:117369743-117369793	Hela-S3	cervix:	n/a
20	chr5:117630841-117630891	BE2_C	brain:	n/a
21	chr5:117630841-117630891	Jurkat	blood:	n/a
22	chr5:117543966-117544016	Jurkat	blood:	n/a
23	chr5:117822219-117822269	CMK	blood:	n/a
24	chr5:117822219-117822269	HEK293	kidney:	embryo
25	chr5:117630841-117630891	T-47D	breast:	n/a
26	chr5:117618514-117618564	SK-N-SH	brain:	n/a
27	chr5:117618514-117618564	HRCEpiC	kidney:	n/a
28	chr5:117543401-117543451	NB4	blood:	n/a
29	chr5:117822219-117822269	MCF10A-Er-Src	breast:	n/a
30	chr5:117543401-117543451	GM12892	blood:	n/a
31	chr5:117618514-117618564	HCM	heart:	n/a
32	chr5:117543966-117544016	GM12878	blood:	n/a
33	chr5:117617841-117617891	AG04449	skin:	fetal
34	chr5:117543966-117544016	AoSMC	blood vessel:	n/a
35	chr5:117543401-117543451	A549	lung:	n/a
36	chr5:117369743-117369793	PFSK-1	brain:	n/a
37	chr5:117532041-117532091	Caco-2	colon:	n/a
38	chr5:117369743-117369793	PrEC	prostate:	n/a
39	chr5:117543681-117543731	HCT-116	colon:	n/a
40	chr5:117822219-117822269	GM19239	blood:	n/a
41	chr5:117543681-117543731	Jurkat	blood:	n/a
42	chr5:117617841-117617891	AoSMC	blood vessel:	n/a
43	chr5:117822219-117822269	U87	brain:	n/a
44	chr5:117617841-117617891	ECC-1	luminal epithelium:	n/a
45	chr5:117645500-117645550	HCM	heart:	n/a
46	chr5:117369743-117369793	GM12892	blood:	n/a
47	chr5:117380176-117380226	PrEC	prostate:	n/a
48	chr5:117786381-117786431	HL-60	blood:	n/a
49	chr5:117964718-117964768	AG04449	skin:	fetal
50	chr5:117543966-117544016	HEEpiC	esophagus:	n/a

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:117607162..117609228-chr5:117612634..117615234,2	MCF-7	breast:
2	chr5:117502319..117505069-chr5:118158604..118161182,2	K562	blood:
3	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
4	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
5	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:
6	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
7	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
8	chr5:117953386..117954146-chr5:118127518..118128022,2	MCF-7	breast:
9	chr5:117564627..117566245-chr5:117569681..117572148,3	MCF-7	breast:
10	chr5:117347395..117349488-chr5:117350615..117352225,2	MCF-7	breast:
11	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
12	chr5:117290251..117292922-chr5:117295708..117298452,2	K562	blood:
13	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
14	chr5:117947053..117948753-chr5:118127871..118130563,2	MCF-7	breast:
15	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
16	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
17	chr5:117345300..117346190-chr5:117357499..117358381,2	MCF-7	breast:
18	chr5:117930634..117932935-chr5:117933519..117935108,2	MCF-7	breast:
19	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
20	chr5:117281554..117282055-chr5:117345500..117346273,2	MCF-7	breast:
21	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
22	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
23	chr5:117345575..117346316-chr5:118111227..118112029,2	MCF-7	breast:
24	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
25	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
26	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
27	chr14:81686696..81687602-chr5:117664674..117665194,3	HCT-116	colon:
28	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
29	chr5:117499273..117500993-chr5:117501863..117504364,2	MCF-7	breast:
30	chr5:116790798..116792666-chr5:117532580..117535246,2	MCF-7	breast:
31	chr5:117125890..117127438-chr5:117130783..117133189,2	MCF-7	breast:
32	chr5:117501309..117503811-chr5:117506709..117509666,2	MCF-7	breast:
33	chr5:117268408..117270558-chr5:117281285..117282851,2	MCF-7	breast:
34	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
35	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
36	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
37	chr19:45004428..45006019-chr5:117490682..117492182,2	MCF-7	breast:
38	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
39	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
40	chr5:117377675..117379711-chr5:117380055..117382328,2	MCF-7	breast:
41	chr5:117345300..117346190-chr5:117357499..117358381,2	MCF-7	breast:
42	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
43	chr5:117125890..117127438-chr5:117130783..117133189,2	MCF-7	breast:
44	chr5:117564627..117566245-chr5:117569681..117572148,3	MCF-7	breast:
45	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
46	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
47	chr1:120217504..120218053-chr5:117348657..117349312,2	MCF-7	breast:
48	chr5:117112749..117115394-chr5:117119190..117122198,3	K562	blood:
49	chr5:117425163..117426019-chr8:96717892..96718447,2	MCF-7	breast:
50	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:

(count:85 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
2	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
3	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
4	lnc-DMXL1-4	chr5:117523160-117523290	XLOC_004524
5	lnc-DMXL1-4	chr5:117542415-117542551	XLOC_004524
6	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
7	lnc-DMXL1-1	chr5:117949988-117950046	XLOC_004527
8	lnc-DMXL1-9	chr5:117646168-117646321	ucscGeneNc_uc003krz_2
9	lnc-DMXL1-4	chr5:117260705-117260826	NR_104997
10	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
11	lnc-DMXL1-1	chr5:117931883-117931916	XLOC_004527
12	lnc-DMXL1-4	chr5:117331303-117331432	XLOC_004524
13	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
14	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
15	lnc-DMXL1-2	chr5:117916964-117917019	XLOC_004526
16	lnc-DTWD2-3	chr5:117897616-117897812	XLOC_004965
17	lnc-DMXL1-1	chr5:117963545-117963787	XLOC_004527
18	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
19	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
20	lnc-DMXL1-2	chr5:117911270-117911381	XLOC_004526
21	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
22	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
23	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
24	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
25	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
26	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
27	lnc-DTWD2-3	chr5:117897616-117897751	XLOC_004965
28	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
29	lnc-DTWD2-3	chr5:117881553-117881844	XLOC_004965
30	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
31	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
32	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
33	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
34	lnc-DTWD2-10	chr5:117887243-117887411	l_3002_chr5:117837955-117925717_heart
35	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
36	lnc-DMXL1-2	chr5:117912735-117912889	XLOC_004526
37	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610
38	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
39	lnc-DTWD2-12	chr5:117114521-117115227	NONHSAT103390
40	lnc-DTWD2-10	chr5:117886321-117886440	l_3002_chr5:117837955-117925717_heart
41	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
42	lnc-DMXL1-4	chr5:117542415-117542631	XLOC_004524
43	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
44	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
45	lnc-DMXL1-2	chr5:117916227-117916343	XLOC_004526
46	lnc-DMXL1-4	chr5:117260715-117260826	XLOC_004524
47	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
48	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
49	lnc-DMXL1-4	chr5:117260703-117260826	XLOC_004524
50	lnc-DMXL1-4	chr5:117601049-117601757	NR_104997

No data

Variant related genes	Relation type
ENSG00000249797	TF binding region
ENSG00000250427	TF binding region
ENSG00000249551	TF binding region
RPL7L1P4	TF binding region
ENSG00000249128	TF binding region
ENSG00000250891	TF binding region
ENSG00000249797	CpG island
ENSG00000250427	CpG island
ENSG00000249551	CpG island
RPL7L1P4	CpG island
ENSG00000249128	CpG island
ENSG00000250891	CpG island
ENSG00000048828	chromatin interactions
ENSG00000249582	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000249128	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000167384	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000248663	chromatin interactions
TAX1BP1	miRNA target sites
CEBPZ	miRNA target sites
SFRS2	miRNA target sites
MARK2	miRNA target sites
MAT2A	miRNA target sites
CEBPD	miRNA target sites
CEBPB	miRNA target sites
DIABLO	miRNA target sites
NR2C2AP	miRNA target sites
MARS2	miRNA target sites
CELSR3	miRNA target sites
HOXA5	miRNA target sites
DHX57	miRNA target sites
MATR3	miRNA target sites
KRAS	miRNA target sites
DICER1	miRNA target sites

Extended variants
information (count: 18766 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:18766 , 50 per page) page: 1 2 3 4 5 6 7 ... 376

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531905818	chr5:117102565-117102566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569189746	chr5:117102570-117102571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147567518	chr5:117102598-117102599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557924694	chr5:117102601-117102602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141925920	chr5:117102623-117102624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534052271	chr5:117102661-117102662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548609216	chr5:117102665-117102666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554213076	chr5:117102666-117102667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573980845	chr5:117102677-117102678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74846345	chr5:117102686-117102687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182367603	chr5:117102696-117102697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78864124	chr5:117102699-117102700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200822046	chr5:117102713-117102714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151209347	chr5:117102793-117102794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140345870	chr5:117102808-117102809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187745198	chr5:117102817-117102818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73784880	chr5:117102861-117102862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192547671	chr5:117102873-117102874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182862458	chr5:117103021-117103022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188366703	chr5:117103022-117103023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528889967	chr5:117103040-117103041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548558212	chr5:117103063-117103064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569254025	chr5:117103071-117103072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531894778	chr5:117103095-117103096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551626938	chr5:117103101-117103102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534779319	chr5:117103196-117103197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371258948	chr5:117103202-117103203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112284981	chr5:117103208-117103209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373675430	chr5:117103318-117103319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112747573	chr5:117103366-117103367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74401431	chr5:117103384-117103385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554009305	chr5:117103385-117103386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567740080	chr5:117103404-117103405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536692449	chr5:117103413-117103414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7728206	chr5:117103468-117103469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375462049	chr5:117103571-117103572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544534112	chr5:117103639-117103640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574626584	chr5:117103642-117103643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577789208	chr5:117103692-117103693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79750796	chr5:117103701-117103702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560028929	chr5:117103728-117103729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535974224	chr5:117103740-117103741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193195075	chr5:117103749-117103750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184690792	chr5:117103754-117103755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35394146	chr5:117103807-117103808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138842797	chr5:117103820-117103821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113673960	chr5:117103841-117103842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576181752	chr5:117103864-117103865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571896632	chr5:117103886-117103887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575729124	chr5:117103887-117103888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117098800-117105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:117103000-117105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:117105600-117105800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117105800-117114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117113800-117114200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:117122400-117123000	Enhancers	Fetal Lung	lung
7	chr5:117127800-117128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:117127800-117128200	Enhancers	Fetal Intestine Small	intestine
9	chr5:117128200-117129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:117129200-117130000	Active TSS	Ovary	ovary
11	chr5:117129400-117129600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:117129400-117129600	Active TSS	Brain Angular Gyrus	brain
13	chr5:117129400-117129600	Enhancers	Brain Hippocampus Middle	brain
14	chr5:117129400-117129600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:117129400-117129800	Enhancers	Fetal Brain Female	brain
16	chr5:117129400-117130000	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:117129400-117130200	Active TSS	Brain Anterior Caudate	brain
18	chr5:117129400-117130200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:117129400-117130400	Enhancers	Brain Germinal Matrix	brain
20	chr5:117129400-117130400	Enhancers	Brain Substantia Nigra	brain
21	chr5:117129600-117129800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr5:117129600-117130000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:117129600-117130000	Active TSS	Right Atrium	heart
24	chr5:117129600-117130200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:117129600-117130200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr5:117129800-117130000	Active TSS	Brain Angular Gyrus	brain
27	chr5:117130000-117130400	Enhancers	Brain Angular Gyrus	brain
28	chr5:117130200-117130400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:117130200-117131200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:117131200-117136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:117132600-117133000	Enhancers	Fetal Intestine Large	intestine
32	chr5:117136000-117136400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:117136000-117136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:117136000-117136400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:117136200-117136600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:117136400-117137800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:117136600-117138800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:117137800-117138200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:117138800-117139200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:117140400-117141200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:117140600-117141200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:117140600-117141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:117140800-117141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:117141000-117141400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:117144800-117145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:117144800-117145600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:117145400-117145600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:117148400-117149200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:117165000-117165400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:117165000-117165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links