Variant report

Variant	nsv833923
Chromosome Location	chr20:12904689-13064426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1765)
CpG islands
(count:245)
Chromatin interactive
region (count:36)
LncRNA
region (count:63)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:12950054-12950215	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:12909384-12910281	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:13064150-13064439	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:12905713-12906255	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:12979775-12980137	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:12957073-12960219	HepG2	liver:	n/a	chr20:12959400-12959416
7	ARID3A	chr20:13039465-13040399	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:12989620-12990063	HepG2	liver:	n/a	n/a
9	ARID3A	chr20:12927477-12927759	HepG2	liver:	n/a	n/a
10	ARID3A	chr20:12992257-12992447	HepG2	liver:	n/a	n/a
11	ATF1	chr20:13042352-13042442	K562	blood:	n/a	n/a
12	ATF2	chr20:12990156-12990721	GM12878	blood:	n/a	n/a
13	ATF2	chr20:12990151-12990685	GM12878	blood:	n/a	n/a
14	BACH1	chr20:13042112-13042473	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr20:12909754-12910041	GM12878	blood:	n/a	n/a
16	BATF	chr20:12990279-12990546	GM12878	blood:	n/a	n/a
17	BATF	chr20:12905895-12906214	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:12990207-12990573	GM12878	blood:	n/a	chr20:12990409-12990418
19	BCLAF1	chr20:12990154-12990708	GM12878	blood:	n/a	chr20:12990409-12990418
20	BCLAF1	chr20:12905718-12906178	GM12878	blood:	n/a	chr20:12905931-12905944 chr20:12906066-12906075
21	BCLAF1	chr20:12990199-12990543	GM12878	blood:	n/a	chr20:12990409-12990418
22	BHLHE40	chr20:13010721-13010944	A549	lung:	n/a	n/a
23	BHLHE40	chr20:13010706-13010943	HepG2	liver:	n/a	n/a
24	BHLHE40	chr20:12990300-12990677	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:12909724-12910153	HepG2	liver:	n/a	n/a
26	BHLHE40	chr20:12947650-12947729	HepG2	liver:	n/a	n/a
27	BRCA1	chr20:12905857-12906390	HepG2	liver:	n/a	n/a
28	BRCA1	chr20:12990430-12990682	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr20:13040124-13040234	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:13010543-13011077	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr20:13039433-13039508	HepG2	liver:	n/a	n/a
32	BRCA1	chr20:12951214-12951329	HepG2	liver:	n/a	n/a
33	CEBPB	chr20:12964714-12965116	MCF-7	breast:	n/a	chr20:12964859-12964870
34	CEBPB	chr20:13001049-13001351	HepG2	liver:	n/a	chr20:13001209-13001220
35	CEBPB	chr20:13010500-13011211	A549	lung:	n/a	n/a
36	CEBPB	chr20:12945719-12945939	A549	lung:	n/a	n/a
37	CEBPB	chr20:12951425-12951662	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:12942431-12942757	A549	lung:	n/a	chr20:12942588-12942597 chr20:12942586-12942597 chr20:12942586-12942599 chr20:12942586-12942599 chr20:12942587-12942598 chr20:12942586-12942599
39	CEBPB	chr20:12987377-12987955	A549	lung:	n/a	chr20:12987578-12987591
40	CEBPB	chr20:12997990-12998319	A549	lung:	n/a	chr20:12998149-12998160
41	CEBPB	chr20:12997991-12998337	HepG2	liver:	n/a	chr20:12998149-12998160
42	CEBPB	chr20:12909554-12910092	IMR90	lung:	n/a	n/a
43	CEBPB	chr20:12964663-12965351	HepG2	liver:	n/a	chr20:12964859-12964870 chr20:12965178-12965191
44	CEBPB	chr20:12987439-12987889	Hela-S3	cervix:	n/a	chr20:12987578-12987591
45	CEBPB	chr20:12998696-12999236	A549	lung:	n/a	chr20:12998918-12998929 chr20:12998920-12998929 chr20:12999154-12999167 chr20:12998920-12998929 chr20:12998920-12998929 chr20:12998918-12998931 chr20:12999156-12999167 chr20:12998920-12998929 chr20:12998919-12998930 chr20:12998918-12998931 chr20:12999156-12999167
46	CEBPB	chr20:12964599-12965161	ECC-1	luminal epithelium:	n/a	chr20:12964859-12964870
47	CEBPB	chr20:13010438-13011060	IMR90	lung:	n/a	n/a
48	CEBPB	chr20:12964642-12965178	A549	lung:	n/a	chr20:12964859-12964870
49	CEBPB	chr20:12974397-12974725	HepG2	liver:	n/a	chr20:12974549-12974560
50	CEBPB	chr20:12909630-12909791	HepG2	liver:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:12989053-12989103	PANC-1	pancreas:	n/a
2	chr20:12989053-12989103	PANC-1	pancreas:	n/a
3	chr20:12988727-12988777	T-47D	breast:	n/a
4	chr20:12988931-12988981	IMR90	lung:	fetal
5	chr20:12989053-12989103	Caco-2	colon:	n/a
6	chr20:12988931-12988981	NHBE	bronchial:	n/a
7	chr20:12989053-12989103	Hela-S3	cervix:	n/a
8	chr20:12989053-12989103	MCF10A-Er-Src	breast:	n/a
9	chr20:12989844-12989894	U87	brain:	n/a
10	chr20:12989844-12989894	A549	lung:	n/a
11	chr20:12989844-12989894	T-47D	breast:	n/a
12	chr20:12988727-12988777	GM12892	blood:	n/a
13	chr20:12989053-12989103	AG04450	lung:	fetal
14	chr20:12989844-12989894	HNPCEpiC	eye:	n/a
15	chr20:12989844-12989894	Caco-2	colon:	n/a
16	chr20:12988931-12988981	ECC-1	luminal epithelium:	n/a
17	chr20:12988727-12988777	HMEC	breast:	n/a
18	chr20:12988931-12988981	U87	brain:	n/a
19	chr20:12989844-12989894	PFSK-1	brain:	n/a
20	chr20:12988931-12988981	Jurkat	blood:	n/a
21	chr20:12988727-12988777	U87	brain:	n/a
22	chr20:12989053-12989103	PFSK-1	brain:	n/a
23	chr20:12989844-12989894	MCF-7	breast:	n/a
24	chr20:12988931-12988981	HEK293	kidney:	embryo
25	chr20:12989053-12989103	SK-N-SH	brain:	n/a
26	chr20:12988931-12988981	GM12878	blood:	n/a
27	chr20:12989844-12989894	AG04449	skin:	fetal
28	chr20:12989844-12989894	NHBE	bronchial:	n/a
29	chr20:12988931-12988981	HMEC	breast:	n/a
30	chr20:12989053-12989103	NT2-D1	testis:	n/a
31	chr20:12988727-12988777	HCT-116	colon:	n/a
32	chr20:12988931-12988981	HRE	kidney:	n/a
33	chr20:12988727-12988777	ovcar-3	ovarian:	n/a
34	chr20:12988931-12988981	PFSK-1	brain:	n/a
35	chr20:12989053-12989103	AG09309	skin:	n/a
36	chr20:12989053-12989103	HCT-116	colon:	n/a
37	chr20:12989053-12989103	HUVEC	blood vessel:	n/a
38	chr20:12988727-12988777	GM12891	blood:	n/a
39	chr20:12989053-12989103	HPAEpiC	pulmonary alveolar:	n/a
40	chr20:12989844-12989894	SK-N-SH	brain:	n/a
41	chr20:12988931-12988981	K562	blood:	n/a
42	chr20:12988931-12988981	GM12891	blood:	n/a
43	chr20:12988931-12988981	HAEpiC	amniotic membrane:	n/a
44	chr20:12988931-12988981	NHDF-neo	bronchial:	n/a
45	chr20:12989053-12989103	HRCEpiC	kidney:	n/a
46	chr20:12989844-12989894	H1-hESC	embryonic stem cell:	embryo
47	chr20:12988931-12988981	ProgFib	skin:	n/a
48	chr20:12989844-12989894	AG10803	skin:	n/a
49	chr20:12989844-12989894	PANC-1	pancreas:	n/a
50	chr20:12989844-12989894	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr20:13010524..13012462-chr20:13019943..13021816,2	MCF-7	breast:
2	chr20:12950887..12951603-chr20:13099913..13100746,2	MCF-7	breast:
3	chr20:12964132..12966004-chr20:12984975..12987751,2	MCF-7	breast:
4	chr20:12906070..12908369-chr20:12946069..12948002,2	MCF-7	breast:
5	chr20:13047877..13048475-chr3:30809727..30810708,2	MCF-7	breast:
6	chr20:12977715..12980207-chr20:12984575..12987738,3	MCF-7	breast:
7	chr20:12950635..12951554-chr20:13085951..13087133,9	MCF-7	breast:
8	chr20:12941463..12943706-chr20:12945619..12947454,2	MCF-7	breast:
9	chr20:12904584..12906657-chr20:12946403..12948442,2	MCF-7	breast:
10	chr20:13010524..13012462-chr20:13019943..13021816,2	MCF-7	breast:
11	chr20:12989027..12991064-chr20:12996136..12998099,2	MCF-7	breast:
12	chr20:12913367..12915594-chr20:12917258..12919625,2	MCF-7	breast:
13	chr20:12991571..12994520-chr20:12996510..12998198,2	MCF-7	breast:
14	chr20:13002186..13004190-chr20:13008427..13010353,2	MCF-7	breast:
15	chr20:12991571..12994520-chr20:12996510..12998198,2	MCF-7	breast:
16	chr2:201161815..201162676-chr20:12942962..12943611,2	MCF-7	breast:
17	chr20:13046904..13049128-chr20:13050831..13053226,2	MCF-7	breast:
18	chr20:12905631..12906154-chr20:13086259..13087223,2	MCF-7	breast:
19	chr20:12913367..12915594-chr20:12917258..12919625,2	MCF-7	breast:
20	chr20:12904584..12906657-chr20:12946403..12948442,2	MCF-7	breast:
21	chr20:12977715..12980207-chr20:12984575..12987738,3	MCF-7	breast:
22	chr20:12905518..12906454-chr20:12946845..12948133,8	MCF-7	breast:
23	chr20:12950635..12951321-chr20:13242468..13243223,2	MCF-7	breast:
24	chr20:12905418..12906763-chr20:12946186..12947828,17	MCF-7	breast:
25	chr20:12909287..12913024-chr20:12914784..12918380,3	MCF-7	breast:
26	chr20:13046904..13049128-chr20:13050831..13053226,2	MCF-7	breast:
27	chr20:13002186..13004190-chr20:13008427..13010353,2	MCF-7	breast:
28	chr20:12905518..12906454-chr20:12946845..12948133,8	MCF-7	breast:
29	chr20:12905650..12906529-chr20:13100262..13100853,2	MCF-7	breast:
30	chr20:12906070..12908369-chr20:12946069..12948002,2	MCF-7	breast:
31	chr20:12921782..12922300-chr3:762237..762760,2	MCF-7	breast:
32	chr20:12950616..12951918-chr20:13085994..13087113,12	MCF-7	breast:
33	chr20:12964132..12966004-chr20:12984975..12987751,2	MCF-7	breast:
34	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
35	chr20:12941463..12943706-chr20:12945619..12947454,2	MCF-7	breast:
36	chr20:12905418..12906763-chr20:12946186..12947828,17	MCF-7	breast:

(count:63 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TASP1-4	chr20:12905380-12905556	NR_109868
2	lnc-TASP1-4	chr20:12925792-12925840	XLOC_013657
3	lnc-SPTLC3-1	chr20:12932099-12932215	NONHSAT078674
4	lnc-SPTLC3-1	chr20:12917568-12917877	NONHSAT078669
5	lnc-TASP1-4	chr20:12932413-12933167	XLOC_013657
6	lnc-TASP1-4	chr20:12921467-12921584	XLOC_013657
7	lnc-TASP1-5	chr20:12915491-12916122	XLOC_013658
8	lnc-SPTLC3-1	chr20:12947694-12947891	XLOC_013465
9	lnc-SPTLC3-1	chr20:12932099-12932275	XLOC_013465
10	lnc-SPTLC3-1	chr20:12951045-12951800	XLOC_013465
11	lnc-SPTLC3-1	chr20:12948188-12948275	NONHSAT078664
12	lnc-SPTLC3-1	chr20:12931002-12931409	NONHSAT078674
13	lnc-SPTLC3-1	chr20:12915492-12917004	NONHSAT078665
14	lnc-TASP1-4	chr20:12925792-12925840	NR_109868
15	lnc-SPTLC3-1	chr20:12946581-12946820	NONHSAT078665
16	lnc-SPTLC3-1	chr20:12948188-12948234	XLOC_013465
17	lnc-SPTLC3-1	chr20:12931002-12931409	XLOC_013465
18	lnc-SPTLC3-3	chr20:13029593-13031666	NONHSAT078677
19	lnc-SPTLC3-3	chr20:12989627-12990032	NONHSAT078677
20	lnc-SPTLC3-1	chr20:12927726-12927759	NONHSAT078670
21	lnc-TASP1-5	chr20:12916594-12916654	XLOC_013658
22	lnc-TASP1-4	chr20:12921467-12921584	NR_109868
23	lnc-SPTLC3-1	chr20:12946646-12946820	XLOC_013465
24	lnc-TASP1-4	chr20:12927727-12927759	XLOC_013657
25	lnc-SPTLC3-1	chr20:12946729-12946820	XLOC_013465
26	lnc-TASP1-5	chr20:12915526-12916122	NR_109872
27	lnc-TASP1-5	chr20:12915532-12916122	XLOC_013658
28	lnc-TASP1-4	chr20:12931048-12931407	XLOC_013657
29	lnc-SPTLC3-1	chr20:12946650-12946820	NONHSAT078664
30	lnc-SPTLC3-1	chr20:12947694-12947847	NONHSAT078674
31	lnc-SPTLC3-1	chr20:12947697-12947858	NONHSAT078665
32	lnc-SPTLC3-1	chr20:12916530-12917014	FPKM1_group_18872_transcript_1
33	lnc-SPTLC3-1	chr20:12946729-12946820	XLOC_013465
34	lnc-SPTLC3-1	chr20:12946646-12946820	NONHSAT078674
35	lnc-SPTLC3-1	chr20:12947694-12947858	XLOC_013465
36	lnc-SPTLC3-1	chr20:12916530-12917014	NONHSAT078669
37	lnc-SPTLC3-1	chr20:12915492-12917004	NONHSAT078663
38	lnc-SPTLC3-1	chr20:12917677-12917877	NONHSAT078663
39	lnc-TASP1-4	chr20:12931048-12931134	XLOC_013657
40	lnc-TASP1-3	chr20:13000031-13000253	ENSG00000238144.1
41	lnc-SPTLC3-1	chr20:12930985-12931409	NONHSAT078670
42	lnc-SPTLC3-1	chr20:12951045-12951272	NONHSAT078665
43	lnc-TASP1-5	chr20:12917380-12917960	XLOC_013658
44	lnc-SPTLC3-2	chr20:12916687-12917004	ENSG00000235234
45	lnc-TASP1-5	chr20:12917380-12917611	NR_109872
46	lnc-SPTLC3-1	chr20:12930988-12931409	NR_109870
47	lnc-TASP1-5	chr20:12915525-12916431	ENSG00000269931.1
48	lnc-TASP1-4	chr20:12905380-12905556	XLOC_013657
49	lnc-SPTLC3-1	chr20:12932099-12932215	NONHSAT078664
50	lnc-TASP1-5	chr20:12916459-12916496	XLOC_013658

No data

Variant related genes	Relation type
ENSG00000269931	TF binding region
ENSG00000233048	TF binding region
ENSG00000271426	TF binding region
ENSG00000234265	TF binding region
SPTLC3	TF binding region
ENSG00000269931	CpG island
ENSG00000233048	CpG island
ENSG00000271426	CpG island
ENSG00000234265	CpG island
SPTLC3	CpG island
ENSG00000269931	chromatin interactions
ENSG00000172296	chromatin interactions
NNT	miRNA target sites
FAM177A1	miRNA target sites
MYH9	miRNA target sites
ITGB2	miRNA target sites
IL22	miRNA target sites
ARL15	miRNA target sites

Extended variants
information (count: 6368 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:6368 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572937837	chr20:12904750-12904751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369892665	chr20:12904775-12904776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73271220	chr20:12904780-12904781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182235230	chr20:12904802-12904803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186127884	chr20:12904833-12904834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550193994	chr20:12904845-12904846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564040722	chr20:12904846-12904847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369812262	chr20:12904890-12904891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532691710	chr20:12904913-12904914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62201675	chr20:12904993-12904994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190978181	chr20:12905002-12905003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73271223	chr20:12905009-12905010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528520210	chr20:12905013-12905014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552703378	chr20:12905075-12905076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146405254	chr20:12905104-12905105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs243870	chr20:12905134-12905135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537285183	chr20:12905143-12905144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556953770	chr20:12905178-12905179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6074520	chr20:12905188-12905189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs539756183	chr20:12905231-12905232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552962594	chr20:12905333-12905334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572876989	chr20:12905336-12905337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541552756	chr20:12905350-12905351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77486180	chr20:12905447-12905448	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs13045508	chr20:12905468-12905469	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6104998	chr20:12905470-12905471	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532887591	chr20:12905497-12905498	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs139492683	chr20:12905541-12905542	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs563745619	chr20:12905545-12905546	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs6104999	chr20:12905557-12905558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532627397	chr20:12905561-12905562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6105000	chr20:12905585-12905586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546092453	chr20:12905598-12905599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183340674	chr20:12905647-12905648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142766007	chr20:12905656-12905657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151040391	chr20:12905664-12905665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150584167	chr20:12905694-12905695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539908705	chr20:12905881-12905882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530930923	chr20:12905910-12905911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550713073	chr20:12905914-12905915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139643982	chr20:12905930-12905931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570667646	chr20:12905949-12905950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539695263	chr20:12905987-12905988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75851512	chr20:12905990-12905991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553349095	chr20:12906001-12906002	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs115316197	chr20:12906030-12906031	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs188793162	chr20:12906039-12906040	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs370069894	chr20:12906042-12906043	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs73898221	chr20:12906183-12906184	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113911165	chr20:12906238-12906239	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12897800-12907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:12903400-12904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:12903400-12905200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:12903800-12911600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:12904000-12906000	Weak transcription	Liver	Liver
6	chr20:12904000-12906000	Weak transcription	Fetal Intestine Large	intestine
7	chr20:12904000-12906000	Weak transcription	Fetal Intestine Small	intestine
8	chr20:12904200-12906400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:12904400-12904800	Weak transcription	HepG2	liver
10	chr20:12904400-12905000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:12904400-12905200	Enhancers	Brain Germinal Matrix	brain
12	chr20:12904400-12906000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:12904400-12906200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:12904400-12906400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:12904400-12906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:12904400-12906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:12904400-12910800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:12904800-12905000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:12904800-12905400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:12904800-12905600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr20:12904800-12906000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr20:12904800-12906000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:12904800-12906000	Enhancers	HepG2	liver
24	chr20:12904800-12906400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr20:12904800-12906600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr20:12904800-12907000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:12905000-12905600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr20:12905000-12905800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:12905000-12907800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:12905200-12905400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr20:12905200-12906200	Weak transcription	Brain Germinal Matrix	brain
32	chr20:12905200-12906400	Enhancers	Brain Hippocampus Middle	brain
33	chr20:12905200-12907800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr20:12905400-12905800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr20:12905400-12905800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr20:12905400-12906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:12905400-12906000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr20:12905400-12906200	Enhancers	Brain Anterior Caudate	brain
39	chr20:12905400-12906200	Enhancers	Fetal Brain Female	brain
40	chr20:12905400-12906400	Enhancers	Fetal Muscle Leg	muscle
41	chr20:12905400-12907000	Enhancers	Primary hematopoietic stem cells	blood
42	chr20:12905400-12909400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:12905600-12906000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr20:12905600-12906400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:12905600-12906600	Enhancers	Fetal Lung	lung
46	chr20:12905600-12907000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr20:12905600-12910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:12905600-12911000	Enhancers	NH-A	brain
49	chr20:12905800-12906000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr20:12905800-12906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links