Variant report

Variant	nsv482143
Chromosome Location	chr1:228294380-228297013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:553)
CpG islands
(count:489)
Chromatin interactive
region (count:27)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228296880-228297150	K562	blood:	n/a	n/a
2	ARID3A	chr1:228296830-228297370	HepG2	liver:	n/a	n/a
3	ATF1	chr1:228296014-228297277	K562	blood:	n/a	n/a
4	ATF2	chr1:228296765-228297257	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:228296814-228297207	GM12878	blood:	n/a	n/a
6	ATF2	chr1:228296687-228297283	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:228296734-228297356	GM12878	blood:	n/a	n/a
8	ATF3	chr1:228296805-228297221	HepG2	liver:	n/a	chr1:228297098-228297107
9	ATF3	chr1:228296878-228297121	GM12878	blood:	n/a	chr1:228297098-228297107
10	ATF3	chr1:228296817-228297298	K562	blood:	n/a	chr1:228297098-228297107
11	ATF3	chr1:228296697-228297287	H1-hESC	embryonic stem cell:	n/a	chr1:228297098-228297107
12	ATF3	chr1:228296781-228297269	GM12878	blood:	n/a	chr1:228297098-228297107
13	ATF3	chr1:228296701-228297194	HepG2	liver:	n/a	chr1:228297098-228297107
14	ATF3	chr1:228296786-228297392	K562	blood:	n/a	chr1:228297098-228297107
15	ATF3	chr1:228296602-228297203	K562	blood:	n/a	chr1:228297098-228297107
16	ATF3	chr1:228296810-228297244	H1-hESC	embryonic stem cell:	n/a	chr1:228297098-228297107
17	BATF	chr1:228296806-228297117	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:228296814-228297681	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:228296830-228297417	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:228296824-228297426	K562	blood:	n/a	n/a
21	BRCA1	chr1:228296858-228297137	GM12878	blood:	n/a	n/a
22	BRCA1	chr1:228296850-228297178	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr1:228296811-228297237	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr1:228296759-228297184	HepG2	liver:	n/a	n/a
25	CBX3	chr1:228296623-228297461	K562	blood:	n/a	n/a
26	CCNT2	chr1:228296776-228297394	K562	blood:	n/a	n/a
27	CEBPB	chr1:228296836-228297296	K562	blood:	n/a	n/a
28	CEBPB	chr1:228296824-228297309	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:228296830-228297307	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:228296819-228297367	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:228296832-228297377	MCF-7	breast:	n/a	n/a
32	CEBPB	chr1:228296970-228297180	K562	blood:	n/a	n/a
33	CEBPB	chr1:228296880-228297342	K562	blood:	n/a	n/a
34	CEBPB	chr1:228296738-228297392	A549	lung:	n/a	n/a
35	CEBPB	chr1:228296916-228297346	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:228296892-228297297	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:228296882-228297295	A549	lung:	n/a	n/a
38	CEBPB	chr1:228296909-228297196	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:228296939-228297264	HepG2	liver:	n/a	n/a
40	CEBPD	chr1:228296723-228297449	HepG2	liver:	n/a	n/a
41	CEBPD	chr1:228296574-228297409	K562	blood:	n/a	n/a
42	CEBPD	chr1:228296891-228297286	HepG2	liver:	n/a	n/a
43	CHD2	chr1:228296789-228297465	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr1:228296704-228297717	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr1:228296785-228297577	K562	blood:	n/a	n/a
46	CHD2	chr1:228296660-228297738	GM12878	blood:	n/a	n/a
47	CHD2	chr1:228296760-228298153	HepG2	liver:	n/a	n/a
48	CREB1	chr1:228296305-228297601	K562	blood:	n/a	n/a
49	CREB1	chr1:228296565-228297346	GM12878	blood:	n/a	n/a
50	CREB1	chr1:228296457-228298326	HepG2	liver:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228295382-228295432	LNCaP	prostate:	n/a
2	chr1:228295382-228295432	LNCaP	prostate:	n/a
3	chr1:228296991-228297041	HAEpiC	amniotic membrane:	n/a
4	chr1:228295437-228295487	SK-N-MC	brain:	n/a
5	chr1:228296932-228296982	GM19239	blood:	n/a
6	chr1:228296964-228297014	HRPEpiC	eye:	n/a
7	chr1:228296991-228297041	GM12891	blood:	n/a
8	chr1:228294401-228294451	A549	lung:	n/a
9	chr1:228295437-228295487	HCM	heart:	n/a
10	chr1:228295382-228295432	HMEC	breast:	n/a
11	chr1:228295858-228295908	SK-N-SH_RA	brain:	n/a
12	chr1:228296932-228296982	HAEpiC	amniotic membrane:	n/a
13	chr1:228296991-228297041	HCPEpiC	choroid plexus:	n/a
14	chr1:228294401-228294451	NB4	blood:	n/a
15	chr1:228295568-228295618	NT2-D1	testis:	n/a
16	chr1:228295437-228295487	HCPEpiC	choroid plexus:	n/a
17	chr1:228295382-228295432	HUVEC	blood vessel:	n/a
18	chr1:228295858-228295908	HMEC	breast:	n/a
19	chr1:228296932-228296982	ProgFib	skin:	n/a
20	chr1:228296932-228296982	SK-N-MC	brain:	n/a
21	chr1:228296932-228296982	HIPEpiC	eye:	n/a
22	chr1:228296932-228296982	SK-N-SH	brain:	n/a
23	chr1:228294401-228294451	HRCEpiC	kidney:	n/a
24	chr1:228296932-228296982	PrEC	prostate:	n/a
25	chr1:228295382-228295432	CMK	blood:	n/a
26	chr1:228296964-228297014	SK-N-SH_RA	brain:	n/a
27	chr1:228295437-228295487	ECC-1	luminal epithelium:	n/a
28	chr1:228296964-228297014	HCPEpiC	choroid plexus:	n/a
29	chr1:228296964-228297014	GM19239	blood:	n/a
30	chr1:228296932-228296982	AoSMC	blood vessel:	n/a
31	chr1:228294401-228294451	MCF-7	breast:	n/a
32	chr1:228295382-228295432	MCF10A-Er-Src	breast:	n/a
33	chr1:228296964-228297014	PFSK-1	brain:	n/a
34	chr1:228295858-228295908	HEK293	kidney:	embryo
35	chr1:228295858-228295908	SAEC	small airway:	n/a
36	chr1:228296932-228296982	NT2-D1	testis:	n/a
37	chr1:228295568-228295618	BE2_C	brain:	n/a
38	chr1:228295568-228295618	CMK	blood:	n/a
39	chr1:228294401-228294451	AG09309	skin:	n/a
40	chr1:228295382-228295432	BJ	skin:	n/a
41	chr1:228296964-228297014	AG09319	gingival:	n/a
42	chr1:228295568-228295618	HCT-116	colon:	n/a
43	chr1:228295858-228295908	NT2-D1	testis:	n/a
44	chr1:228294401-228294451	Caco-2	colon:	n/a
45	chr1:228295568-228295618	K562	blood:	n/a
46	chr1:228295568-228295618	SK-N-MC	brain:	n/a
47	chr1:228296964-228297014	NT2-D1	testis:	n/a
48	chr1:228295858-228295908	GM12878	blood:	n/a
49	chr1:228296964-228297014	SKMC	muscle:	n/a
50	chr1:228295568-228295618	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:228296738..228297414-chr7:44836178..44836722,2	NB4	blood:
2	chr1:228292983..228294840-chr1:228295520..228297774,2	MCF-7	breast:
3	chr1:228294222..228297212-chr1:228327852..228330069,2	MCF-7	breast:
4	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
5	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
6	chr1:228295402..228297803-chr1:228330568..228332279,2	MCF-7	breast:
7	chr1:228296750..228297459-chr10:71930025..71930697,2	NB4	blood:
8	chr1:228295500..228297827-chr1:228593936..228595478,2	K562	blood:
9	chr1:228296537..228297467-chr15:75493986..75494523,2	Hela-S3	cervix:
10	chr1:228295479..228298124-chr1:228352385..228354527,2	MCF-7	breast:
11	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:
12	chr1:228295591..228297111-chr1:228358549..228360057,2	K562	blood:
13	chr1:228296521..228297564-chr1:228327615..228328500,3	Hela-S3	cervix:
14	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
15	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
16	chr1:228292983..228294840-chr1:228295520..228297774,2	MCF-7	breast:
17	chr1:228295585..228298429-chr1:228645232..228648455,3	K562	blood:
18	chr1:228193720..228196616-chr1:228296879..228298469,2	MCF-7	breast:
19	chr1:228270227..228270808-chr1:228296563..228297459,2	NB4	blood:
20	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
21	chr1:228296521..228297220-chr3:150321016..150321544,2	NB4	blood:
22	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
23	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
24	chr1:228274118..228278669-chr1:228294195..228297645,6	MCF-7	breast:
25	chr1:228293306..228296150-chr1:228462712..228464969,2	K562	blood:
26	chr1:228295585..228298584-chr1:228645620..228647778,2	K562	blood:
27	chr1:228295623..228298108-chr1:228335544..228338438,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf35-2	chr1:228296138-228296274	NONHSAT009966
2	lnc-C1orf35-2	chr1:228296138-228296598	NONHSAT009967
3	lnc-C1orf35-2	chr1:228295963-228296722	NONHSAT009974
4	lnc-C1orf35-2	chr1:228296962-228296996	NONHSAT009972
5	lnc-C1orf35-2	chr1:228295486-228295570	NONHSAT009966
6	lnc-C1orf35-2	chr1:228295936-228296022	NONHSAT009967
7	lnc-C1orf35-2	chr1:228295678-228295838	NONHSAT009966
8	lnc-C1orf35-2	chr1:228296138-228296175	NONHSAT009972
9	lnc-C1orf35-2	chr1:228295927-228296019	NONHSAT009970
10	lnc-C1orf35-2	chr1:228295948-228296022	NONHSAT009973
11	lnc-C1orf35-2	chr1:228295525-228295570	NONHSAT009967
12	lnc-C1orf35-2	chr1:228296962-228296991	NONHSAT009969
13	lnc-C1orf35-2	chr1:228296138-228296717	NONHSAT009965
14	lnc-C1orf35-2	chr1:228295936-228296019	NONHSAT009965
15	lnc-C1orf35-2	chr1:228296850-228296997	NONHSAT009970
16	lnc-C1orf35-2	chr1:228295936-228296022	NONHSAT009966
17	lnc-C1orf35-2	chr1:228296138-228296722	NONHSAT009969
18	lnc-C1orf35-2	chr1:228295815-228296019	NONHSAT009969
19	lnc-C1orf35-2	chr1:228296138-228296732	NONHSAT009968
20	lnc-C1orf35-2	chr1:228295468-228295570	NONHSAT009965
21	lnc-C1orf35-2	chr1:228295760-228296022	NONHSAT009968
22	lnc-C1orf35-2	chr1:228296962-228297003	NONHSAT009967
23	lnc-C1orf35-2	chr1:228296656-228296722	NONHSAT009972
24	lnc-C1orf35-2	chr1:228296850-228296979	NONHSAT009973
25	lnc-C1orf35-2	chr1:228296962-228296991	NONHSAT009974
26	lnc-C1orf35-2	chr1:228296138-228296722	NONHSAT009973
27	lnc-C1orf35-2	chr1:228295936-228296019	NONHSAT009972

No data

Variant related genes	Relation type
MRPL55	TF binding region
C1orf35	TF binding region
MRPL55	CpG island
C1orf35	CpG island
ENSG00000143761	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000198835	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000143774	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000231563	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000154342	chromatin interactions
ENSG00000181218	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563610759	chr1:228294384-228294385	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs373533039	chr1:228294420-228294421	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs375626807	chr1:228294421-228294422	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs113602555	chr1:228294429-228294430	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs370221036	chr1:228294441-228294442	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs373890223	chr1:228294442-228294443	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs368096867	chr1:228294450-228294451	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs370902163	chr1:228294454-228294455	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs374269957	chr1:228294459-228294460	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs145809265	chr1:228294495-228294496	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs371052237	chr1:228294498-228294499	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs200596637	chr1:228294499-228294500	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs528711259	chr1:228294517-228294518	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs141205409	chr1:228294519-228294520	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs375373877	chr1:228294529-228294530	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs146147136	chr1:228294533-228294534	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs372690646	chr1:228294542-228294543	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs201322831	chr1:228294561-228294562	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs141950039	chr1:228294567-228294568	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs200018997	chr1:228294568-228294569	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs201353580	chr1:228294569-228294570	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs376021962	chr1:228294579-228294580	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs367551882	chr1:228294587-228294588	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs370774349	chr1:228294604-228294605	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs569624105	chr1:228294607-228294608	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs371674227	chr1:228294642-228294643	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs376680919	chr1:228294643-228294644	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs532251809	chr1:228294675-228294676	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs552362189	chr1:228294709-228294710	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs566608143	chr1:228294712-228294713	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs565885468	chr1:228294726-228294727	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs534862518	chr1:228294810-228294811	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs535482216	chr1:228294827-228294828	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs139933214	chr1:228294886-228294887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs568392681	chr1:228294893-228294894	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs537021688	chr1:228294899-228294900	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs183557984	chr1:228294944-228294945	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs187860837	chr1:228294945-228294946	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs546279544	chr1:228294991-228294992	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs192924501	chr1:228295029-228295030	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs368011006	chr1:228295067-228295068	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs573089153	chr1:228295074-228295075	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs542049427	chr1:228295076-228295077	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs562024970	chr1:228295079-228295080	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs185089116	chr1:228295128-228295129	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs145387968	chr1:228295215-228295216	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs79543795	chr1:228295248-228295249	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs532064515	chr1:228295251-228295252	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs552298999	chr1:228295259-228295260	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs565821877	chr1:228295310-228295311	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228291400-228296400	Weak transcription	Aorta	Aorta
2	chr1:228291600-228296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:228291800-228295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:228291800-228295600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:228291800-228296200	Weak transcription	NH-A	brain
6	chr1:228291800-228296400	Weak transcription	Small Intestine	intestine
7	chr1:228292000-228295400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:228292000-228295800	Weak transcription	Fetal Brain Male	brain
9	chr1:228292000-228296000	Weak transcription	Fetal Kidney	kidney
10	chr1:228292000-228296000	Weak transcription	HUVEC	blood vessel
11	chr1:228292000-228296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:228292000-228296200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:228292200-228295400	Weak transcription	Hela-S3	cervix
14	chr1:228292200-228295600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:228292200-228295600	Weak transcription	NHEK	skin
16	chr1:228292200-228295800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:228292200-228295800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:228292200-228296000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:228292200-228296200	Weak transcription	Psoas Muscle	Psoas
20	chr1:228292400-228295600	Strong transcription	Fetal Stomach	stomach
21	chr1:228292400-228295800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:228292600-228294600	Strong transcription	A549	lung
23	chr1:228292600-228295400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:228292600-228295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:228292600-228295600	Strong transcription	Fetal Intestine Small	intestine
26	chr1:228292600-228295800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:228292600-228296200	Weak transcription	Right Atrium	heart
28	chr1:228292800-228294800	Strong transcription	GM12878-XiMat	blood
29	chr1:228292800-228295400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:228292800-228295400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:228292800-228295400	Strong transcription	Fetal Brain Female	brain
32	chr1:228292800-228295400	Strong transcription	Placenta	Placenta
33	chr1:228292800-228295600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:228292800-228296000	Weak transcription	Fetal Heart	heart
35	chr1:228292800-228296200	Weak transcription	NHDF-Ad	bronchial
36	chr1:228293000-228294400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:228293000-228294600	Strong transcription	Ovary	ovary
38	chr1:228293000-228295000	Strong transcription	Brain Germinal Matrix	brain
39	chr1:228293000-228295200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:228293000-228295200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:228293000-228295200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:228293000-228295200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr1:228293000-228295400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:228293000-228295400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:228293000-228295400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:228293000-228295400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:228293000-228295400	Strong transcription	Esophagus	oesophagus
48	chr1:228293000-228295400	Strong transcription	Gastric	stomach
49	chr1:228293000-228295600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:228293000-228295600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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