Variant report

Variant	esv3340100
Chromosome Location	chr5:179497871-179500719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:458)
CpG islands
(count:549)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179498996-179499345	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179498986-179499018	K562	blood:	n/a	n/a
3	ATF3	chr5:179498875-179499483	A549	lung:	n/a	chr5:179499439-179499452
4	BACH1	chr5:179497993-179498316	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:179498846-179499457	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr5:179499074-179499556	A549	lung:	n/a	chr5:179499248-179499261 chr5:179499223-179499236 chr5:179499252-179499265
7	BCLAF1	chr5:179498940-179499483	K562	blood:	n/a	chr5:179499248-179499261 chr5:179499034-179499043 chr5:179499223-179499236 chr5:179499252-179499265
8	BHLHE40	chr5:179498393-179498665	GM12878	blood:	n/a	n/a
9	BHLHE40	chr5:179498532-179499317	A549	lung:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
10	BHLHE40	chr5:179497792-179499588	K562	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
11	BHLHE40	chr5:179498122-179499358	HepG2	liver:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
12	BHLHE40	chr5:179498868-179499359	GM12878	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239
13	BRCA1	chr5:179498936-179499289	HepG2	liver:	n/a	n/a
14	BRCA1	chr5:179498927-179499435	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr5:179498584-179498603	HepG2	liver:	n/a	n/a
16	CBX3	chr5:179499030-179499654	K562	blood:	n/a	n/a
17	CBX3	chr5:179498306-179499785	HCT-116	colon:	n/a	n/a
18	CBX3	chr5:179498767-179499835	K562	blood:	n/a	n/a
19	CCNT2	chr5:179498256-179499405	K562	blood:	n/a	chr5:179499039-179499048
20	CEBPB	chr5:179498007-179498320	HepG2	liver:	n/a	chr5:179498140-179498151
21	CEBPB	chr5:179499211-179499360	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:179497951-179498386	MCF-7	breast:	n/a	chr5:179498140-179498151
23	CEBPB	chr5:179498968-179498970	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr5:179499244-179499297	K562	blood:	n/a	n/a
25	CEBPB	chr5:179497812-179498308	Hela-S3	cervix:	n/a	chr5:179498140-179498151
26	CEBPB	chr5:179499028-179499301	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr5:179497969-179498305	IMR90	lung:	n/a	chr5:179498140-179498151
28	CEBPB	chr5:179497991-179498293	K562	blood:	n/a	chr5:179498140-179498151
29	CEBPD	chr5:179498803-179499359	HepG2	liver:	n/a	n/a
30	CHD1	chr5:179497668-179498392	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr5:179498638-179498661	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr5:179498243-179498248	GM12878	blood:	n/a	n/a
33	CHD2	chr5:179498874-179499391	K562	blood:	n/a	n/a
34	CHD2	chr5:179498880-179499408	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr5:179498164-179498180	K562	blood:	n/a	n/a
36	CHD2	chr5:179498576-179499387	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr5:179498895-179499338	GM12878	blood:	n/a	n/a
38	CHD2	chr5:179498871-179499328	HepG2	liver:	n/a	n/a
39	CHD2	chr5:179498071-179498270	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr5:179498453-179499437	A549	lung:	n/a	n/a
41	CREB1	chr5:179498378-179499469	HepG2	liver:	n/a	n/a
42	CTCF	chr5:179498935-179498955	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr5:179499080-179499230	AG04449	skin:	n/a	n/a
44	CTCF	chr5:179499151-179499248	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr5:179498800-179498950	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr5:179498080-179498230	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr5:179499271-179499380	K562	blood:	n/a	n/a
48	CTCF	chr5:179499105-179499284	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr5:179498500-179498650	AG04449	skin:	n/a	n/a
50	CTCF	chr5:179498969-179499036	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179499304-179499354	HRCEpiC	kidney:	n/a
2	chr5:179499311-179499361	T-47D	breast:	n/a
3	chr5:179498303-179498353	HAEpiC	amniotic membrane:	n/a
4	chr5:179499824-179499874	IMR90	lung:	fetal
5	chr5:179498943-179498993	HCT-116	colon:	n/a
6	chr5:179499337-179499387	HRPEpiC	eye:	n/a
7	chr5:179499337-179499387	AG09309	skin:	n/a
8	chr5:179499106-179499156	AG04449	skin:	fetal
9	chr5:179499488-179499538	SK-N-SH	brain:	n/a
10	chr5:179499311-179499361	Caco-2	colon:	n/a
11	chr5:179499337-179499387	IMR90	lung:	fetal
12	chr5:179499311-179499361	HAEpiC	amniotic membrane:	n/a
13	chr5:179499304-179499354	SKMC	muscle:	n/a
14	chr5:179499488-179499538	SK-N-SH_RA	brain:	n/a
15	chr5:179499311-179499361	K562	blood:	n/a
16	chr5:179499824-179499874	ProgFib	skin:	n/a
17	chr5:179498303-179498353	Hepatocyte	liver:	n/a
18	chr5:179499488-179499538	HEK293	kidney:	embryo
19	chr5:179499488-179499538	BJ	skin:	n/a
20	chr5:179499304-179499354	HUVEC	blood vessel:	n/a
21	chr5:179498943-179498993	HAEpiC	amniotic membrane:	n/a
22	chr5:179498114-179498164	A549	lung:	n/a
23	chr5:179499106-179499156	CMK	blood:	n/a
24	chr5:179499337-179499387	K562	blood:	n/a
25	chr5:179498943-179498993	GM12891	blood:	n/a
26	chr5:179498303-179498353	H1-hESC	embryonic stem cell:	embryo
27	chr5:179499311-179499361	NT2-D1	testis:	n/a
28	chr5:179499304-179499354	AG04450	lung:	fetal
29	chr5:179498114-179498164	K562	blood:	n/a
30	chr5:179498303-179498353	Hela-S3	cervix:	n/a
31	chr5:179499824-179499874	AoSMC	blood vessel:	n/a
32	chr5:179499824-179499874	NT2-D1	testis:	n/a
33	chr5:179499311-179499361	MCF10A-Er-Src	breast:	n/a
34	chr5:179498303-179498353	A549	lung:	n/a
35	chr5:179498303-179498353	AG10803	skin:	n/a
36	chr5:179499311-179499361	NB4	blood:	n/a
37	chr5:179498303-179498353	GM19239	blood:	n/a
38	chr5:179498943-179498993	NH-A	brain:	n/a
39	chr5:179499488-179499538	GM12892	blood:	n/a
40	chr5:179499304-179499354	GM12891	blood:	n/a
41	chr5:179499824-179499874	GM12891	blood:	n/a
42	chr5:179499106-179499156	SKMC	muscle:	n/a
43	chr5:179498303-179498353	AoSMC	blood vessel:	n/a
44	chr5:179499824-179499874	HNPCEpiC	eye:	n/a
45	chr5:179499304-179499354	GM12878	blood:	n/a
46	chr5:179499304-179499354	PANC-1	pancreas:	n/a
47	chr5:179499311-179499361	HNPCEpiC	eye:	n/a
48	chr5:179499311-179499361	SK-N-MC	brain:	n/a
49	chr5:179499337-179499387	NHBE	bronchial:	n/a
50	chr5:179498943-179498993	K562	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
2	chr5:179285987..179287986-chr5:179498943..179500555,2	K562	blood:
3	chr5:179285802..179287373-chr5:179498927..179500668,2	MCF-7	breast:
4	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
5	chr5:179496103..179499035-chr5:179510851..179514542,4	K562	blood:
6	chr5:179498374..179498987-chr6:8102687..8103214,2	Hela-S3	cervix:
7	chr5:154134362..154135956-chr5:179498285..179499281,4	HCT-116	colon:
8	chr5:179285948..179288985-chr5:179497401..179500729,4	K562	blood:
9	chr5:179499305..179501402-chr5:179506576..179508838,2	K562	blood:
10	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
11	chr5:179160317..179162813-chr5:179497518..179499972,2	K562	blood:
12	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
13	chr5:179499106..179500693-chr5:179512372..179515293,2	K562	blood:
14	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
15	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
16	chr5:179467128..179469131-chr5:179495464..179498336,2	MCF-7	breast:
17	chr5:179404319..179405843-chr5:179497809..179500320,2	K562	blood:
18	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
19	chr5:179231876..179233754-chr5:179500230..179502936,2	K562	blood:

No data

Variant related genes	Relation type
RNF130	TF binding region
RNF130	CpG island
ENSG00000155506	chromatin interactions
ENSG00000265818	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000124802	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000253480	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568984016	chr5:179497875-179497876	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs11359101	chr5:179497982-179497983	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs368342161	chr5:179497990-179497991	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs398093924	chr5:179497991-179497992	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs536264752	chr5:179498006-179498007	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs554504947	chr5:179498012-179498013	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs547154064	chr5:179498035-179498036	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs540098642	chr5:179498039-179498040	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs540155721	chr5:179498042-179498043	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs558755208	chr5:179498051-179498052	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs117139494	chr5:179498075-179498076	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs190686993	chr5:179498101-179498102	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs562591909	chr5:179498160-179498161	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs12656219	chr5:179498189-179498190	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369907806	chr5:179498205-179498206	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs541854296	chr5:179498220-179498221	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs148281907	chr5:179498251-179498252	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs373793345	chr5:179498309-179498310	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs546961797	chr5:179498326-179498327	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs571839500	chr5:179498342-179498343	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs532589898	chr5:179498344-179498345	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs550728819	chr5:179498366-179498367	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs569020980	chr5:179498441-179498442	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs201475396	chr5:179498529-179498530	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs201097064	chr5:179498590-179498591	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs201118376	chr5:179498592-179498593	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs3749821	chr5:179498595-179498596	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372287941	chr5:179498614-179498615	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs3828698	chr5:179498658-179498659	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572975356	chr5:179498711-179498712	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs558547708	chr5:179498732-179498733	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs577037147	chr5:179498766-179498767	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs544433989	chr5:179498822-179498823	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs556353144	chr5:179498923-179498924	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs574587793	chr5:179499079-179499080	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs141339319	chr5:179499103-179499104	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs560128540	chr5:179499110-179499111	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs555078621	chr5:179499141-179499142	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs527270895	chr5:179499145-179499146	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs545757063	chr5:179499162-179499163	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs565456637	chr5:179499198-179499199	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs377527852	chr5:179499266-179499267	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs73810942	chr5:179499267-179499268	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550767425	chr5:179499279-179499280	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs7734867	chr5:179499292-179499293	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535892234	chr5:179499293-179499294	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs548374150	chr5:179499307-179499308	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs76898970	chr5:179499314-179499315	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs77617244	chr5:179499384-179499385	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs552508083	chr5:179499405-179499406	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179494800-179498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179495200-179498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:179495400-179499400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:179495600-179499200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:179495800-179499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:179495800-179499200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:179496200-179498000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:179496200-179498000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:179496400-179498400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr5:179496400-179498400	Bivalent/Poised TSS	GM12878-XiMat	blood
11	chr5:179496600-179498000	Flanking Active TSS	Fetal Kidney	kidney
12	chr5:179496600-179498200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:179496600-179498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr5:179496600-179498400	Flanking Active TSS	K562	blood
15	chr5:179496600-179498400	Flanking Active TSS	NH-A	brain
16	chr5:179496600-179499200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:179496600-179499200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:179496600-179499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:179496800-179498000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:179496800-179498000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr5:179496800-179498000	Enhancers	Esophagus	oesophagus
22	chr5:179496800-179498000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr5:179496800-179498000	Enhancers	Spleen	Spleen
24	chr5:179496800-179498000	Flanking Active TSS	A549	lung
25	chr5:179496800-179498200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr5:179496800-179498200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:179496800-179498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:179496800-179499200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:179496800-179499400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:179496800-179499400	Active TSS	Brain Substantia Nigra	brain
31	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:179497000-179498000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:179497000-179498000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:179497000-179498000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:179497000-179498000	Active TSS	Brain Germinal Matrix	brain
36	chr5:179497000-179498000	Flanking Active TSS	HUVEC	blood vessel
37	chr5:179497000-179498200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:179497000-179498200	Flanking Active TSS	Osteobl	bone
39	chr5:179497000-179498400	Active TSS	Fetal Brain Male	brain
40	chr5:179497000-179499200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179497000-179499200	Active TSS	Brain Cingulate Gyrus	brain
42	chr5:179497000-179499200	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:179497000-179499400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:179497000-179499400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:179497200-179498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:179497200-179498000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr5:179497200-179498000	Flanking Active TSS	Placenta	Placenta
48	chr5:179497200-179498000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:179497200-179498200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:179497200-179498200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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