Variant report

Variant	esv2754845
Chromosome Location	chr1:211846605-211878605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1450)
CpG islands
(count:1159)
Chromatin interactive
region (count:36)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:211848817-211849021	K562	blood:	n/a	n/a
2	ARID3A	chr1:211871840-211872225	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:211871863-211872071	K562	blood:	n/a	n/a
4	ARID3A	chr1:211853984-211854449	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:211854047-211854568	K562	blood:	n/a	n/a
6	ATF1	chr1:211868910-211869237	K562	blood:	n/a	n/a
7	ATF1	chr1:211848548-211849523	K562	blood:	n/a	n/a
8	ATF2	chr1:211871803-211872262	GM12878	blood:	n/a	n/a
9	ATF2	chr1:211868413-211869167	GM12878	blood:	n/a	n/a
10	ATF2	chr1:211868363-211869262	GM12878	blood:	n/a	n/a
11	ATF2	chr1:211870571-211871159	GM12878	blood:	n/a	n/a
12	ATF2	chr1:211870541-211871177	GM12878	blood:	n/a	n/a
13	ATF2	chr1:211854037-211854672	GM12878	blood:	n/a	n/a
14	ATF2	chr1:211849110-211849595	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:211848828-211849507	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr1:211849102-211849551	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr1:211849124-211849571	K562	blood:	n/a	n/a
18	ATF3	chr1:211849132-211849600	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr1:211848926-211849600	A549	lung:	n/a	n/a
20	ATF3	chr1:211848754-211849543	A549	lung:	n/a	n/a
21	ATF3	chr1:211849046-211849602	K562	blood:	n/a	n/a
22	ATF3	chr1:211848894-211849588	K562	blood:	n/a	n/a
23	ATF3	chr1:211849233-211849524	HepG2	liver:	n/a	n/a
24	ATF3	chr1:211849041-211849624	HepG2	liver:	n/a	n/a
25	BACH1	chr1:211849024-211849382	K562	blood:	n/a	n/a
26	BACH1	chr1:211849186-211849510	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr1:211868402-211868836	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:211868438-211868877	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:211870683-211871065	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:211850987-211851339	GM12878	blood:	n/a	chr1:211851184-211851193
31	BCL11A	chr1:211870654-211871120	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:211868457-211868835	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:211851057-211851307	GM12878	blood:	n/a	chr1:211851184-211851193
34	BCL3	chr1:211848530-211849466	A549	lung:	n/a	n/a
35	BCL3	chr1:211870604-211871120	GM12878	blood:	n/a	n/a
36	BCLAF1	chr1:211851035-211851398	GM12878	blood:	n/a	chr1:211851184-211851193
37	BCLAF1	chr1:211868331-211868871	GM12878	blood:	n/a	n/a
38	BCLAF1	chr1:211871770-211872213	GM12878	blood:	n/a	chr1:211872042-211872055 chr1:211872041-211872050
39	BCLAF1	chr1:211868316-211869160	GM12878	blood:	n/a	n/a
40	BCLAF1	chr1:211871768-211872269	GM12878	blood:	n/a	chr1:211872042-211872055 chr1:211872041-211872050
41	BHLHE40	chr1:211868496-211868749	HepG2	liver:	n/a	n/a
42	BHLHE40	chr1:211848797-211849548	K562	blood:	n/a	n/a
43	BHLHE40	chr1:211849118-211849531	HepG2	liver:	n/a	n/a
44	BHLHE40	chr1:211871509-211872287	GM12878	blood:	n/a	n/a
45	BHLHE40	chr1:211849212-211849506	HepG2	liver:	n/a	n/a
46	BHLHE40	chr1:211871891-211872230	K562	blood:	n/a	n/a
47	BHLHE40	chr1:211868928-211869243	K562	blood:	n/a	n/a
48	BHLHE40	chr1:211868379-211869245	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:211854082-211854860	GM12878	blood:	n/a	chr1:211854260-211854276
50	BHLHE40	chr1:211870701-211871114	GM12878	blood:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211848760-211848810	PFSK-1	brain:	n/a
2	chr1:211849158-211849208	GM12892	blood:	n/a
3	chr1:211849137-211849187	T-47D	breast:	n/a
4	chr1:211872653-211872703	T-47D	breast:	n/a
5	chr1:211848764-211848814	GM12892	blood:	n/a
6	chr1:211872318-211872368	AG04449	skin:	fetal
7	chr1:211848604-211848654	PrEC	prostate:	n/a
8	chr1:211872042-211872092	PrEC	prostate:	n/a
9	chr1:211849137-211849187	AoSMC	blood vessel:	n/a
10	chr1:211848760-211848810	HRPEpiC	eye:	n/a
11	chr1:211872162-211872212	HUVEC	blood vessel:	n/a
12	chr1:211860642-211860692	Caco-2	colon:	n/a
13	chr1:211849090-211849140	SKMC	muscle:	n/a
14	chr1:211848938-211848988	LNCaP	prostate:	n/a
15	chr1:211849252-211849302	GM06990	blood:	n/a
16	chr1:211848604-211848654	SK-N-SH_RA	brain:	n/a
17	chr1:211849015-211849065	PrEC	prostate:	n/a
18	chr1:211849137-211849187	HCM	heart:	n/a
19	chr1:211860642-211860692	Jurkat	blood:	n/a
20	chr1:211849090-211849140	GM12878	blood:	n/a
21	chr1:211872042-211872092	ovcar-3	ovarian:	n/a
22	chr1:211860642-211860692	HRPEpiC	eye:	n/a
23	chr1:211860612-211860662	Caco-2	colon:	n/a
24	chr1:211849941-211849991	SK-N-SH	brain:	n/a
25	chr1:211849137-211849187	HepG2	liver:	n/a
26	chr1:211848604-211848654	SKMC	muscle:	n/a
27	chr1:211848760-211848810	HEK293	kidney:	embryo
28	chr1:211848764-211848814	HRCEpiC	kidney:	n/a
29	chr1:211860612-211860662	GM12891	blood:	n/a
30	chr1:211849252-211849302	HRPEpiC	eye:	n/a
31	chr1:211860612-211860662	IMR90	lung:	fetal
32	chr1:211851667-211851717	LNCaP	prostate:	n/a
33	chr1:211872653-211872703	AG10803	skin:	n/a
34	chr1:211848604-211848654	HEEpiC	esophagus:	n/a
35	chr1:211849413-211849463	GM06990	blood:	n/a
36	chr1:211848764-211848814	HAEpiC	amniotic membrane:	n/a
37	chr1:211849252-211849302	SK-N-SH	brain:	n/a
38	chr1:211848604-211848654	NT2-D1	testis:	n/a
39	chr1:211849413-211849463	HCF	heart:	n/a
40	chr1:211849090-211849140	PANC-1	pancreas:	n/a
41	chr1:211849252-211849302	T-47D	breast:	n/a
42	chr1:211860612-211860662	SK-N-SH_RA	brain:	n/a
43	chr1:211848764-211848814	K562	blood:	n/a
44	chr1:211849015-211849065	HRPEpiC	eye:	n/a
45	chr1:211849090-211849140	U87	brain:	n/a
46	chr1:211849137-211849187	MCF10A-Er-Src	breast:	n/a
47	chr1:211849090-211849140	Jurkat	blood:	n/a
48	chr1:211849015-211849065	HCPEpiC	choroid plexus:	n/a
49	chr1:211849137-211849187	U87	brain:	n/a
50	chr1:211848764-211848814	PrEC	prostate:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211736674..211739531-chr1:211847084..211848830,2	K562	blood:
2	chr1:211871629..211872244-chr1:212118224..212119112,2	MCF-7	breast:
3	chr1:211855881..211858845-chr1:212207068..212209405,3	MCF-7	breast:
4	chr1:211872121..211873841-chr1:212003918..212005931,2	K562	blood:
5	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:
6	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
7	chr1:211874453..211877155-chr1:211877610..211880535,2	MCF-7	breast:
8	chr1:211874453..211877155-chr1:211877610..211880535,2	MCF-7	breast:
9	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
10	chr1:211858955..211861332-chr1:212782172..212783892,2	K562	blood:
11	chr1:211871610..211872409-chr1:212207948..212208483,2	K562	blood:
12	chr1:211877596..211879962-chr1:211887940..211890928,3	K562	blood:
13	chr1:211871766..211872437-chr1:212628934..212629488,2	K562	blood:
14	chr1:211852709..211854436-chr1:212207075..212208654,2	K562	blood:
15	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
16	chr1:211843019..211845413-chr1:211846374..211848527,3	MCF-7	breast:
17	chr1:211853897..211854477-chr1:212209052..212209595,2	K562	blood:
18	chr1:211873619..211875227-chr1:212000952..212002871,2	K562	blood:
19	chr1:211853777..211854656-chr1:212003829..212004639,3	K562	blood:
20	chr1:211871693..211872486-chr1:212003719..212004352,3	MCF-7	breast:
21	chr1:211872037..211874391-chr1:211908147..211910585,2	MCF-7	breast:
22	chr1:211878150..211879962-chr1:211887940..211889499,2	K562	blood:
23	chr1:211853999..211854852-chr1:212117864..212118396,2	MCF-7	breast:
24	chr1:211643472..211644059-chr1:211854164..211854716,2	K562	blood:
25	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:
26	chr1:211853729..211854617-chr1:212207985..212208916,5	K562	blood:
27	chr1:211871408..211872238-chr1:212117782..212118707,5	MCF-7	breast:
28	chr1:211854193..211854711-chr1:212629143..212629667,2	K562	blood:
29	chr1:211877072..211879946-chr1:211891385..211892885,2	K562	blood:
30	chr1:211871611..211872531-chr1:212003664..212004660,3	MCF-7	breast:
31	chr1:211871592..211872542-chr1:212003704..212004641,4	K562	blood:
32	chr1:211867435..211872084-chr1:212001341..212005541,5	K562	blood:
33	chr1:211866655..211870305-chr1:212779614..212783585,3	K562	blood:
34	chr1:211848255..211850522-chr1:211856773..211859290,2	K562	blood:
35	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:
36	chr1:211872653..211875227-chr1:212001371..212003518,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAF5-6	chr1:211859812-211860132	XLOC_000550
2	lnc-TRAF5-6	chr1:211849104-211849208	XLOC_000550
3	lnc-TRAF5-6	chr1:211858908-211859148	XLOC_000550
4	lnc-TRAF5-6	chr1:211857996-211858026	NONHSAT009312
5	lnc-TRAF5-6	chr1:211859812-211860141	XLOC_000550
6	lnc-TRAF5-6	chr1:211860868-211861109	XLOC_000550
7	lnc-TRAF5-6	chr1:211849016-211849208	XLOC_000550
8	lnc-TRAF5-6	chr1:211850409-211850496	XLOC_000550
9	lnc-TRAF5-6	chr1:211859864-211859924	XLOC_000550
10	lnc-TRAF5-6	chr1:211859864-211859924	ENSG00000231057.3
11	lnc-TRAF5-6	chr1:211850409-211850496	NONHSAT009312
12	lnc-TRAF5-6	chr1:211856053-211856966	XLOC_000550
13	lnc-TRAF5-6	chr1:211863288-211863445	XLOC_000550
14	lnc-TRAF5-6	chr1:211856892-211856966	NONHSAT009312
15	lnc-TRAF5-6	chr1:211849062-211849208	NONHSAT009312
16	lnc-TRAF5-6	chr1:211857996-211858284	XLOC_000550
17	lnc-TRAF5-6	chr1:211863289-211863445	ENSG00000231057.3
18	lnc-TRAF5-6	chr1:211850409-211850496	XLOC_000550
19	lnc-TRAF5-6	chr1:211860868-211861109	ENSG00000231057.3

No data

Variant related genes	Relation type
NEK2	TF binding region
ENSG00000231057	TF binding region
NEK2	CpG island
ENSG00000231057	CpG island
ENSG00000170385	chromatin interactions
ENSG00000231057	chromatin interactions
ENSG00000229258	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000117650	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000123684	chromatin interactions
KAT2B	miRNA target sites
SESTD1	miRNA target sites
CLOCK	miRNA target sites

Extended variants
information (count: 1244 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539424940	chr1:211846644-211846645	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28524828	chr1:211846650-211846651	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567220980	chr1:211846651-211846652	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142090450	chr1:211846661-211846662	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576073532	chr1:211846714-211846715	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537109124	chr1:211846722-211846723	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145824824	chr1:211846742-211846743	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554599258	chr1:211846761-211846762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540969338	chr1:211846764-211846765	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112357300	chr1:211846766-211846767	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572138617	chr1:211846767-211846768	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545902685	chr1:211846800-211846801	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375335162	chr1:211846832-211846833	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs701929	chr1:211846876-211846877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs531718062	chr1:211846897-211846898	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377505890	chr1:211846926-211846927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543850404	chr1:211846936-211846937	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1056729	chr1:211846954-211846955	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs151049149	chr1:211846971-211846972	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370425466	chr1:211846972-211846973	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs146297864	chr1:211846979-211846980	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373633768	chr1:211846987-211846988	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377239538	chr1:211847077-211847078	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186604679	chr1:211847101-211847102	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190718202	chr1:211847106-211847107	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370164536	chr1:211847110-211847111	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs77097299	chr1:211847114-211847115	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114668748	chr1:211847126-211847127	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs565720721	chr1:211847154-211847155	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs372672620	chr1:211847169-211847170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536794225	chr1:211847230-211847231	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11583048	chr1:211847285-211847286	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555432415	chr1:211847372-211847373	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567160761	chr1:211847405-211847406	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534490019	chr1:211847416-211847417	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552724646	chr1:211847417-211847418	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577534269	chr1:211847418-211847419	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556204014	chr1:211847488-211847489	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs545245943	chr1:211847497-211847498	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs557868825	chr1:211847505-211847506	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs61849681	chr1:211847510-211847511	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61849682	chr1:211847514-211847515	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558688060	chr1:211847530-211847531	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs562146593	chr1:211847555-211847556	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2305015	chr1:211847579-211847580	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2305014	chr1:211847586-211847587	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201659430	chr1:211847609-211847610	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200901246	chr1:211847620-211847621	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs45623136	chr1:211847646-211847647	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs181925177	chr1:211847672-211847673	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211827600-211847600	Weak transcription	HSMM	muscle
2	chr1:211827600-211847600	Weak transcription	NHEK	skin
3	chr1:211828600-211847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:211828600-211847600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:211828600-211847800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:211828600-211847800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:211828600-211848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211828600-211848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:211828800-211847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:211829000-211847400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:211829000-211847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:211829600-211848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:211832400-211847600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:211833200-211847800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:211833800-211847000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:211835400-211847400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:211836600-211846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:211837200-211848000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:211837400-211848000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:211837600-211846800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:211837600-211847000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:211837600-211847600	Weak transcription	Fetal Kidney	kidney
23	chr1:211838400-211848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:211841000-211847600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:211841000-211848400	Weak transcription	Stomach Mucosa	stomach
26	chr1:211841400-211848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:211841600-211848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:211841800-211847000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:211842000-211848400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:211843200-211847600	Weak transcription	Fetal Brain Female	brain
31	chr1:211843400-211846800	Weak transcription	Fetal Stomach	stomach
32	chr1:211843400-211847200	Weak transcription	Thymus	Thymus
33	chr1:211843400-211847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:211843400-211848000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:211843400-211848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:211843600-211847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:211843600-211847600	Weak transcription	Fetal Lung	lung
38	chr1:211844200-211848400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:211844400-211848000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:211844400-211848000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:211844400-211848000	Weak transcription	NH-A	brain
42	chr1:211844400-211848200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:211844600-211846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:211844600-211846800	Weak transcription	NHLF	lung
45	chr1:211844600-211847800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:211844600-211848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:211844600-211848000	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:211844800-211846800	Weak transcription	Osteobl	bone
49	chr1:211844800-211847600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:211845000-211847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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