Variant report

Variant	nsv1000251
Chromosome Location	chr1:144884237-144949963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1833)
CpG islands
(count:1526)
Chromatin interactive
region (count:129)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
3	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:144938874-144939338	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
7	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
8	ARID3A	chr1:144938243-144938360	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:144937109-144937725	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
11	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
12	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
13	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
14	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
16	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
17	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
19	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
21	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
23	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
24	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
25	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:144908224-144908540	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:144908211-144908941	GM12878	blood:	n/a	n/a
28	BCL3	chr1:144931803-144933017	A549	lung:	n/a	chr1:144932014-144932027 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144932058-144932071 chr1:144932171-144932179
29	BCLAF1	chr1:144931095-144932686	GM12878	blood:	n/a	chr1:144932014-144932027 chr1:144931744-144931753 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144931747-144931756 chr1:144931740-144931753 chr1:144931749-144931762 chr1:144931743-144931756 chr1:144932058-144932071 chr1:144931741-144931750 chr1:144931742-144931755 chr1:144932171-144932179
30	BHLHE40	chr1:144887736-144887832	K562	blood:	n/a	n/a
31	BHLHE40	chr1:144907946-144908684	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:144918068-144918289	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:144931358-144932896	GM12878	blood:	n/a	chr1:144931851-144931867 chr1:144931740-144931756 chr1:144932069-144932085
34	BHLHE40	chr1:144921698-144922064	HepG2	liver:	n/a	n/a
35	BHLHE40	chr1:144935383-144935704	GM12878	blood:	n/a	n/a
36	BRCA1	chr1:144931904-144933128	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:144932346-144932836	GM12878	blood:	n/a	n/a
38	BRCA1	chr1:144938742-144938911	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr1:144931824-144932592	HepG2	liver:	n/a	n/a
40	BRCA1	chr1:144938833-144938875	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr1:144932110-144933073	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr1:144912899-144912910	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr1:144916619-144916671	GM12878	blood:	n/a	n/a
44	CBX3	chr1:144931897-144932645	K562	blood:	n/a	n/a
45	CCNT2	chr1:144932320-144932515	K562	blood:	n/a	n/a
46	CCNT2	chr1:144931633-144932040	K562	blood:	n/a	chr1:144931905-144931914
47	CEBPB	chr1:144921569-144922100	HepG2	liver:	n/a	chr1:144921733-144921744 chr1:144921732-144921743
48	CEBPB	chr1:144934021-144934315	IMR90	lung:	n/a	chr1:144934170-144934183 chr1:144934170-144934183
49	CEBPB	chr1:144936386-144937168	H1-hESC	embryonic stem cell:	n/a	chr1:144936754-144936767
50	CEBPB	chr1:144914547-144914797	IMR90	lung:	n/a	chr1:144914701-144914712

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144931980-144932030	ECC-1	luminal epithelium:	n/a
2	chr1:144931980-144932030	ECC-1	luminal epithelium:	n/a
3	chr1:144932207-144932257	A549	lung:	n/a
4	chr1:144935409-144935459	MCF10A-Er-Src	breast:	n/a
5	chr1:144931476-144931526	Hepatocyte	liver:	n/a
6	chr1:144932625-144932675	PrEC	prostate:	n/a
7	chr1:144937317-144937367	HRE	kidney:	n/a
8	chr1:144932625-144932675	LNCaP	prostate:	n/a
9	chr1:144932207-144932257	HMEC	breast:	n/a
10	chr1:144931476-144931526	ECC-1	luminal epithelium:	n/a
11	chr1:144926986-144927036	NH-A	brain:	n/a
12	chr1:144932473-144932523	SK-N-SH_RA	brain:	n/a
13	chr1:144932311-144932361	LNCaP	prostate:	n/a
14	chr1:144926986-144927036	HL-60	blood:	n/a
15	chr1:144930572-144930622	GM12892	blood:	n/a
16	chr1:144931966-144932016	HEEpiC	esophagus:	n/a
17	chr1:144942354-144942404	RPTEC	kidney:	n/a
18	chr1:144928806-144928856	K562	blood:	n/a
19	chr1:144931980-144932030	PFSK-1	brain:	n/a
20	chr1:144913803-144913853	ECC-1	luminal epithelium:	n/a
21	chr1:144932473-144932523	HRCEpiC	kidney:	n/a
22	chr1:144932311-144932361	Jurkat	blood:	n/a
23	chr1:144931476-144931526	NHBE	bronchial:	n/a
24	chr1:144892111-144892161	SK-N-MC	brain:	n/a
25	chr1:144932476-144932526	A549	lung:	n/a
26	chr1:144932625-144932675	GM06990	blood:	n/a
27	chr1:144892111-144892161	GM12891	blood:	n/a
28	chr1:144931980-144932030	K562	blood:	n/a
29	chr1:144932207-144932257	AG10803	skin:	n/a
30	chr1:144932207-144932257	Caco-2	colon:	n/a
31	chr1:144892566-144892616	GM12891	blood:	n/a
32	chr1:144932136-144932186	Caco-2	colon:	n/a
33	chr1:144931975-144932025	ProgFib	skin:	n/a
34	chr1:144892566-144892616	HAEpiC	amniotic membrane:	n/a
35	chr1:144937317-144937367	ECC-1	luminal epithelium:	n/a
36	chr1:144931975-144932025	AG04449	skin:	fetal
37	chr1:144931476-144931526	HL-60	blood:	n/a
38	chr1:144926986-144927036	Hela-S3	cervix:	n/a
39	chr1:144932625-144932675	RPTEC	kidney:	n/a
40	chr1:144935409-144935459	T-47D	breast:	n/a
41	chr1:144935409-144935459	SAEC	small airway:	n/a
42	chr1:144892111-144892161	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:144937317-144937367	BE2_C	brain:	n/a
44	chr1:144926986-144927036	ECC-1	luminal epithelium:	n/a
45	chr1:144932136-144932186	GM06990	blood:	n/a
46	chr1:144932227-144932277	SK-N-SH	brain:	n/a
47	chr1:144932476-144932526	NH-A	brain:	n/a
48	chr1:144892566-144892616	CMK	blood:	n/a
49	chr1:144887235-144887285	Jurkat	blood:	n/a
50	chr1:144931966-144932016	AG09319	gingival:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:144917778..144918636-chr1:147553160..147554160,3	MCF-7	breast:
2	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
3	chr1:144927059..144931579-chr1:144936470..144939032,4	K562	blood:
4	chr1:144932649..144934258-chr15:98503922..98505541,2	MCF-7	breast:
5	chr1:144912685..144914252-chr1:144947438..144950034,2	K562	blood:
6	chr1:144935354..144938295-chr1:144938460..144940081,2	K562	blood:
7	chr1:144931205..144934166-chr1:144942025..144944282,3	K562	blood:
8	chr1:144930600..144932534-chr1:145038038..145040681,2	MCF-7	breast:
9	chr1:144938723..144940543-chr1:144954443..144955999,2	K562	blood:
10	chr1:144928278..144930809-chr1:145113028..145115664,2	MCF-7	breast:
11	chr1:144932256..144932802-chr2:8821849..8822771,2	HCT-116	colon:
12	chr1:144940268..144942523-chr1:144943310..144945549,2	MCF-7	breast:
13	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
14	chr1:144930907..144932689-chr1:144940117..144941761,2	K562	blood:
15	chr1:144931059..144933605-chr1:149223782..149225455,2	MCF-7	breast:
16	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
17	chr1:144934397..144936617-chr1:145058068..145059656,2	MCF-7	breast:
18	chr1:144921129..144925054-chr1:144925916..144930718,5	K562	blood:
19	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
20	chr1:144908995..144910553-chr1:144913596..144915672,2	K562	blood:
21	chr1:144911399..144913167-chr1:144914593..144916227,2	MCF-7	breast:
22	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
23	chr1:144943493..144945510-chr1:145439161..145441032,2	MCF-7	breast:
24	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
25	chr1:144916772..144918364-chr1:145096684..145098671,2	MCF-7	breast:
26	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
27	chr1:144920944..144925051-chr1:144925584..144929146,5	K562	blood:
28	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
29	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
30	chr1:144931123..144933767-chr1:145038053..145040746,4	MCF-7	breast:
31	chr1:144889740..144892703-chr1:146500075..146502138,3	MCF-7	breast:
32	chr1:144932003..144934560-chr1:145095329..145097401,2	MCF-7	breast:
33	chr1:144533841..144535548-chr1:144945582..144948378,2	K562	blood:
34	chr1:144916627..144918753-chr1:144920547..144922373,2	K562	blood:
35	chr1:144925446..144929176-chr1:145057629..145060761,3	MCF-7	breast:
36	chr1:144914245..144917269-chr1:144938650..144941626,3	K562	blood:
37	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
38	chr1:144891174..144892693-chr1:144930887..144933429,2	MCF-7	breast:
39	chr1:144946789..144948627-chr1:144995983..144997975,2	K562	blood:
40	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
41	chr1:144892599..144896749-chr1:144930798..144933879,5	MCF-7	breast:
42	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
43	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
44	chr1:144941413..144943372-chr1:144947098..144949301,2	MCF-7	breast:
45	chr1:144933246..144935275-chr11:64863413..64865438,2	MCF-7	breast:
46	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:
47	chr1:144929876..144935601-chr1:144987785..144996108,12	MCF-7	breast:
48	chr1:144930056..144932339-chr1:145016108..145018468,2	MCF-7	breast:
49	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
50	chr1:144935150..144939379-chr1:144940271..144942978,9	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-8	chr1:144941080-144941374	NONHSAT005865
2	lnc-POLR3GL-8	chr1:144940612-144940760	NONHSAT005866
3	lnc-POLR3GL-8	chr1:144941080-144941367	NONHSAT005866
4	lnc-POLR3GL-8	chr1:144940123-144940515	NONHSAT005865
5	lnc-POLR3GL-8	chr1:144941764-144941802	NONHSAT005865
6	lnc-POLR3GL-8	chr1:144940359-144940515	NONHSAT005866

No data

Variant related genes	Relation type
PDE4DIP	TF binding region
RNU2-38P	TF binding region
PDE4DIP	CpG island
RNU2-38P	CpG island
ENSG00000241721	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000269900	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000222788	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000198517	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000110375	chromatin interactions

Extended variants
information (count: 2791 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:2791 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587694317	chr1:144884253-144884254	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587752729	chr1:144884262-144884263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1699834	chr1:144884274-144884275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587656661	chr1:144884277-144884278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587709506	chr1:144884307-144884308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374460694	chr1:144884322-144884323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1778136	chr1:144884353-144884354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1698641	chr1:144884402-144884403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587662086	chr1:144884479-144884480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587742099	chr1:144884480-144884481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587617287	chr1:144884523-144884524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587671687	chr1:144884530-144884531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199853195	chr1:144884537-144884538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587717071	chr1:144884558-144884559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587595910	chr1:144884562-144884563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587673811	chr1:144884578-144884579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10527294	chr1:144884584-144884585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587726164	chr1:144884587-144884588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148815941	chr1:144884657-144884658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs937712	chr1:144884674-144884675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1699832	chr1:144884687-144884688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587660968	chr1:144884709-144884710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587740914	chr1:144884718-144884719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587616139	chr1:144884738-144884739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587695551	chr1:144884758-144884759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587735452	chr1:144884846-144884847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587628754	chr1:144884857-144884858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs587692168	chr1:144884864-144884865	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587775083	chr1:144884865-144884866	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587662327	chr1:144884868-144884869	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587721284	chr1:144884911-144884912	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375691335	chr1:144884938-144884939	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs79852158	chr1:144884944-144884945	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1318589	chr1:144884961-144884962	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs72506225	chr1:144884982-144884983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs5777488	chr1:144884983-144884984	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs63332560	chr1:144884984-144884985	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs587772711	chr1:144884990-144884991	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587638407	chr1:144885050-144885051	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77179262	chr1:144885092-144885093	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2762878	chr1:144885117-144885118	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs924670	chr1:144885134-144885135	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375140941	chr1:144885157-144885158	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78293067	chr1:144885189-144885190	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587598784	chr1:144885258-144885259	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587645481	chr1:144885265-144885266	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587705914	chr1:144885269-144885270	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587606414	chr1:144885270-144885271	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587708495	chr1:144885310-144885311	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs587661203	chr1:144885319-144885320	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:168)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Autism	20858243	CNVD

Chromatin state (count:3399 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144850000-144885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:144850000-144886200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:144850000-144886200	Strong transcription	Osteobl	bone
4	chr1:144850000-144886400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
6	chr1:144850400-144886200	Strong transcription	HSMMtube	muscle
7	chr1:144850400-144886600	Strong transcription	Adipose Nuclei	Adipose
8	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
9	chr1:144851200-144884400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
11	chr1:144854200-144886000	Weak transcription	Right Atrium	heart
12	chr1:144860200-144886600	Strong transcription	HSMM	muscle
13	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:144860400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:144860400-144886200	Strong transcription	Brain Substantia Nigra	brain
16	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:144861400-144884800	Strong transcription	NHDF-Ad	bronchial
18	chr1:144861400-144886800	Strong transcription	Brain Hippocampus Middle	brain
19	chr1:144861400-144887200	Strong transcription	Aorta	Aorta
20	chr1:144861800-144884600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:144861800-144885200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:144866400-144886400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:144866400-144887200	Weak transcription	HUVEC	blood vessel
24	chr1:144866800-144888000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:144868600-144892400	Weak transcription	Fetal Thymus	thymus
26	chr1:144869200-144885000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:144869200-144886400	Strong transcription	NHLF	lung
28	chr1:144869400-144885200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:144872200-144885800	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:144872200-144886000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:144872400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:144873400-144886200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr1:144873600-144886800	Strong transcription	Brain Anterior Caudate	brain
35	chr1:144874600-144901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:144874800-144886400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:144874800-144886400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:144874800-144886600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:144874800-144886800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:144874800-144886800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:144874800-144887600	Weak transcription	Dnd41	blood
42	chr1:144874800-144906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:144875000-144886800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:144875000-144891400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:144875000-144893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:144875000-144911000	Weak transcription	Thymus	Thymus
47	chr1:144875200-144887000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:144876400-144886800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:144876600-144885400	Strong transcription	Left Ventricle	heart
50	chr1:144876800-144892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links