Variant report

Variant	nsv9799
Chromosome Location	chr20:26187878-26191877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1653)
CpG islands
(count:854)
Chromatin interactive
region (count:52)
LncRNA
region (count:27)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:26188670-26190654	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:26188665-26190661	K562	blood:	n/a	n/a
3	ATF2	chr20:26189559-26190696	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr20:26188658-26189437	GM12878	blood:	n/a	n/a
5	ATF2	chr20:26188609-26189520	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr20:26189688-26190460	GM12878	blood:	n/a	n/a
7	ATF2	chr20:26190350-26190549	GM12878	blood:	n/a	n/a
8	ATF2	chr20:26188598-26189527	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr20:26189705-26190319	GM12878	blood:	n/a	n/a
10	ATF2	chr20:26188742-26189499	GM12878	blood:	n/a	n/a
11	ATF2	chr20:26189566-26190667	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr20:26189743-26190295	GM12878	blood:	n/a	n/a
13	ATF3	chr20:26189707-26190649	H1-hESC	embryonic stem cell:	n/a	chr20:26190344-26190352
14	ATF3	chr20:26189747-26190340	K562	blood:	n/a	n/a
15	ATF3	chr20:26188697-26190655	K562	blood:	n/a	chr20:26190344-26190352
16	ATF3	chr20:26188778-26189204	GM12878	blood:	n/a	n/a
17	ATF3	chr20:26189239-26189386	K562	blood:	n/a	n/a
18	ATF3	chr20:26189724-26190322	HepG2	liver:	n/a	n/a
19	ATF3	chr20:26190389-26190519	K562	blood:	n/a	n/a
20	ATF3	chr20:26188662-26189535	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr20:26189549-26190567	H1-hESC	embryonic stem cell:	n/a	chr20:26190344-26190352
22	ATF3	chr20:26188637-26190747	A549	lung:	n/a	chr20:26190344-26190352
23	ATF3	chr20:26188677-26189497	HepG2	liver:	n/a	n/a
24	ATF3	chr20:26190355-26190540	HepG2	liver:	n/a	n/a
25	ATF3	chr20:26188643-26190671	A549	lung:	n/a	chr20:26190344-26190352
26	ATF3	chr20:26189712-26190314	K562	blood:	n/a	n/a
27	ATF3	chr20:26188754-26189204	K562	blood:	n/a	n/a
28	BACH1	chr20:26188668-26190665	K562	blood:	n/a	n/a
29	BACH1	chr20:26188659-26190667	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr20:26189721-26190303	GM12878	blood:	n/a	n/a
31	BATF	chr20:26188677-26189220	GM12878	blood:	n/a	n/a
32	BCL11A	chr20:26189727-26190296	GM12878	blood:	n/a	n/a
33	BCL11A	chr20:26188682-26189216	GM12878	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
34	BCL11A	chr20:26189735-26190289	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL3	chr20:26188670-26189518	GM12878	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
36	BCL3	chr20:26188531-26190586	A549	lung:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
37	BCL3	chr20:26189701-26190543	GM12878	blood:	n/a	n/a
38	BCL3	chr20:26188769-26189433	K562	blood:	n/a	chr20:26189177-26189186
39	BCL3	chr20:26189720-26190304	K562	blood:	n/a	n/a
40	BCL3	chr20:26188680-26189512	GM12878	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
41	BCL3	chr20:26188697-26189466	K562	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
42	BCL3	chr20:26188619-26190737	A549	lung:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
43	BCL3	chr20:26189710-26190313	GM12878	blood:	n/a	n/a
44	BCL3	chr20:26189659-26190591	K562	blood:	n/a	n/a
45	BCLAF1	chr20:26189682-26190570	GM12878	blood:	n/a	n/a
46	BCLAF1	chr20:26188728-26190578	K562	blood:	n/a	chr20:26189177-26189186
47	BCLAF1	chr20:26188670-26189511	GM12878	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
48	BCLAF1	chr20:26189711-26190541	GM12878	blood:	n/a	n/a
49	BCLAF1	chr20:26188654-26189539	GM12878	blood:	n/a	chr20:26188715-26188728 chr20:26188719-26188732 chr20:26189177-26189186
50	BCLAF1	chr20:26189678-26190349	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:26188639-26188689	SAEC	small airway:	n/a
2	chr20:26188943-26188993	HL-60	blood:	n/a
3	chr20:26188908-26188958	AG09309	skin:	n/a
4	chr20:26188919-26188969	Caco-2	colon:	n/a
5	chr20:26188997-26189047	NT2-D1	testis:	n/a
6	chr20:26188963-26189013	SK-N-MC	brain:	n/a
7	chr20:26188919-26188969	HCM	heart:	n/a
8	chr20:26188976-26189026	AG09319	gingival:	n/a
9	chr20:26188639-26188689	HEK293	kidney:	embryo
10	chr20:26188971-26189021	HPAEpiC	pulmonary alveolar:	n/a
11	chr20:26188919-26188969	HUVEC	blood vessel:	n/a
12	chr20:26188997-26189047	AG10803	skin:	n/a
13	chr20:26188963-26189013	HAEpiC	amniotic membrane:	n/a
14	chr20:26189510-26189560	RPTEC	kidney:	n/a
15	chr20:26188963-26189013	HRCEpiC	kidney:	n/a
16	chr20:26188997-26189047	MCF-7	breast:	n/a
17	chr20:26188919-26188969	SAEC	small airway:	n/a
18	chr20:26188997-26189047	ProgFib	skin:	n/a
19	chr20:26188976-26189026	AoSMC	blood vessel:	n/a
20	chr20:26188639-26188689	PFSK-1	brain:	n/a
21	chr20:26188976-26189026	MCF10A-Er-Src	breast:	n/a
22	chr20:26188639-26188689	NHDF-neo	bronchial:	n/a
23	chr20:26190354-26190404	MCF-7	breast:	n/a
24	chr20:26188943-26188993	LNCaP	prostate:	n/a
25	chr20:26188943-26188993	NHDF-neo	bronchial:	n/a
26	chr20:26190347-26190397	LNCaP	prostate:	n/a
27	chr20:26188908-26188958	NHBE	bronchial:	n/a
28	chr20:26188919-26188969	H1-hESC	embryonic stem cell:	embryo
29	chr20:26188976-26189026	HCT-116	colon:	n/a
30	chr20:26188971-26189021	HepG2	liver:	n/a
31	chr20:26188963-26189013	HEK293	kidney:	embryo
32	chr20:26188919-26188969	K562	blood:	n/a
33	chr20:26190354-26190404	BJ	skin:	n/a
34	chr20:26190354-26190404	U87	brain:	n/a
35	chr20:26190328-26190378	NHDF-neo	bronchial:	n/a
36	chr20:26189510-26189560	HEEpiC	esophagus:	n/a
37	chr20:26190354-26190404	AG04450	lung:	fetal
38	chr20:26190347-26190397	HCPEpiC	choroid plexus:	n/a
39	chr20:26188976-26189026	ECC-1	luminal epithelium:	n/a
40	chr20:26188639-26188689	AG09319	gingival:	n/a
41	chr20:26190328-26190378	PFSK-1	brain:	n/a
42	chr20:26190328-26190378	RPTEC	kidney:	n/a
43	chr20:26190354-26190404	RPTEC	kidney:	n/a
44	chr20:26190347-26190397	AG09319	gingival:	n/a
45	chr20:26190354-26190404	MCF10A-Er-Src	breast:	n/a
46	chr20:26190347-26190397	T-47D	breast:	n/a
47	chr20:26188919-26188969	AG10803	skin:	n/a
48	chr20:26189240-26189290	BE2_C	brain:	n/a
49	chr20:26190354-26190404	H1-hESC	embryonic stem cell:	embryo
50	chr20:26188971-26189021	HUVEC	blood vessel:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:33961300..33961956-chr20:26188840..26189578,6	MCF-7	breast:
2	chr20:26187252..26191975-chr21:9823984..9828995,56	MCF-7	breast:
3	chr2:133011277..133016757-chr20:26187363..26191986,20	K562	blood:
4	chr2:133014709..133015762-chr20:26188882..26190143,12	MCF-7	breast:
5	chr2:133013667..133017081-chr20:26187658..26190834,11	MCF-7	breast:
6	chr12:20704427..20705972-chr20:26188595..26190576,2	MCF-7	breast:
7	chr1:109756113..109757974-chr20:26187645..26190102,2	MCF-7	breast:
8	chr20:26188413..26189362-chr8:101964386..101965001,2	MCF-7	breast:
9	chr20:26189964..26190759-chr22:50700113..50700613,2	MCF-7	breast:
10	chr20:26188344..26189679-chr21:9825010..9826530,20	HCT-116	colon:
11	chr16:33959793..33967555-chr20:26187372..26191632,15	K562	blood:
12	chr20:26189053..26190595-chr8:67624606..67626126,2	MCF-7	breast:
13	chr2:133011277..133017359-chr20:26187383..26191986,21	K562	blood:
14	chr2:133014727..133015757-chr20:26189158..26190413,12	MCF-7	breast:
15	chr2:133014633..133016102-chr20:26188637..26190095,17	MCF-7	breast:
16	chr2:133015237..133015768-chr20:26189161..26190454,3	K562	blood:
17	chr20:26188275..26190944-chr21:9825018..9827152,38	MCF-7	breast:
18	chr19:56154889..56155389-chr20:26189706..26190477,2	K562	blood:
19	chr20:26188254..26190671-chr21:9824984..9827890,92	MCF-7	breast:
20	chr18:8406500..8407500-chr20:26188735..26189378,2	MCF-7	breast:
21	chr16:33961305..33961892-chr20:26188839..26189533,2	MCF-7	breast:
22	chr20:26187273..26191752-chr21:9823988..9828758,49	MCF-7	breast:
23	chr20:26188271..26189555-chr21:9824988..9827433,58	MCF-7	breast:
24	chr20:26187251..26191978-chr21:9823998..9829001,56	K562	blood:
25	chr12:127649141..127652032-chr20:26188488..26190208,4	K562	blood:
26	chr20:26188433..26190277-chr3:193787174..193790154,2	K562	blood:
27	chr20:26188275..26190975-chr21:9824996..9827903,45	K562	blood:
28	chr16:33964537..33965670-chr20:26188912..26190067,3	K562	blood:
29	chr12:127649002..127652005-chr20:26189997..26191614,3	K562	blood:
30	chr2:133014718..133015708-chr20:26189240..26189953,2	MCF-7	breast:
31	chr20:26188341..26189368-chr21:9825099..9826092,4	MCF-7	breast:
32	chr1:17866319..17866839-chr20:26189992..26190745,2	MCF-7	breast:
33	chr20:26189322..26189965-chr3:72495919..72496919,2	MCF-7	breast:
34	chr12:20703970..20704942-chr20:26190011..26190793,2	K562	blood:
35	chr16:33960780..33961953-chr20:26188513..26190294,8	MCF-7	breast:
36	chr2:133014681..133015764-chr20:26189070..26190458,26	MCF-7	breast:
37	chr2:133015211..133015762-chr20:26189170..26190019,2	MCF-7	breast:
38	chr16:33960800..33961892-chr20:26188687..26190008,21	MCF-7	breast:
39	chr16:33961325..33966193-chr20:26187372..26191793,13	K562	blood:
40	chr20:26187350..26191964-chr21:9824053..9828992,54	K562	blood:
41	chr20:26188947..26190833-chr6:26156720..26159562,2	MCF-7	breast:
42	chr12:20703907..20704890-chr20:26188413..26189402,2	MCF-7	breast:
43	chr20:26190004..26190733-chr8:67687205..67687727,4	MCF-7	breast:
44	chr2:75937839..75938339-chr20:26189314..26190135,2	MCF-7	breast:
45	chr16:33961286..33962956-chr20:26188880..26190564,2	MCF-7	breast:
46	chr20:26188395..26190565-chr6:74228700..74231505,2	MCF-7	breast:
47	chr16:33960778..33961976-chr20:26188545..26190262,6	K562	blood:
48	chr2:133014738..133015584-chr20:26189167..26190034,2	NB4	blood:
49	chr17:73256462..73259302-chr20:26189013..26191624,2	MCF-7	breast:
50	chr2:133013729..133016735-chr20:26188305..26190826,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-6	chr20:26189806-26189884	ENSG00000227195.4
2	lnc-FAM182B-6	chr20:26189900-26189942	ENSG00000227195.4
3	lnc-FAM182B-6	chr20:26189783-26189882	ENSG00000227195.4
4	lnc-FAM182B-6	chr20:26188310-26188703	ENSG00000227195.4
5	lnc-FAM182B-6	chr20:26189759-26189869	ENSG00000227195
6	lnc-FAM182B-6	chr20:26190379-26190475	ENSG00000227195.4
7	lnc-FAM182B-6	chr20:26189799-26189858	ENSG00000227195.4
8	lnc-FAM182B-6	chr20:26188939-26189080	ENSG00000227195.4
9	lnc-FAM182B-6	chr20:26189900-26189993	ENSG00000227195.4
10	lnc-FAM182B-6	chr20:26188310-26188679	ENSG00000227195.4
11	lnc-FAM182B-6	chr20:26189885-26189959	ENSG00000227195.4
12	lnc-FAM182B-6	chr20:26188781-26188874	ENSG00000227195.4
13	lnc-FAM182B-6	chr20:26189806-26189929	ENSG00000227195.4
14	lnc-FAM182B-6	chr20:26189783-26189897	ENSG00000227195.4
15	lnc-FAM182B-6	chr20:26189635-26189731	ENSG00000227195.4
16	lnc-FAM182B-6	chr20:26188310-26188422	ENSG00000227195.4
17	lnc-FAM182B-6	chr20:26189783-26189825	ENSG00000227195.4
18	lnc-FAM182B-6	chr20:26189635-26189731	ENSG00000227195.4
19	lnc-FAM182B-6	chr20:26189783-26189858	ENSG00000227195.4
20	lnc-FAM182B-6	chr20:26189900-26189978	ENSG00000227195.4
21	lnc-FAM182B-6	chr20:26188781-26188874	ENSG00000227195.4
22	lnc-FAM182B-6	chr20:26188310-26188714	ENSG00000227195.4
23	lnc-FAM182B-6	chr20:26189783-26189897	ENSG00000227195.4
24	lnc-FAM182B-6	chr20:26189783-26189897	ENSG00000227195.4
25	lnc-FAM182B-6	chr20:26189900-26190098	ENSG00000227195.4
26	lnc-FAM182B-6	chr20:26190379-26190480	ENSG00000227195.4
27	lnc-FAM182B-6	chr20:26189501-26189527	ENSG00000227195

miRNA name	Chromosome Location	mirBase accession
hsa-miR-663a	chr20:26188879-26188900	MIMAT0003326

No data

Variant related genes	Relation type
MIR663A	TF binding region
MIR663A	CpG island
ENSG00000163046	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000005436	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000074964	chromatin interactions
ENSG00000256663	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000263970	chromatin interactions
ENSG00000104205	chromatin interactions
ENSG00000031698	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000125445	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000163602	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000221288	chromatin interactions
ENSG00000230102	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000125447	chromatin interactions
ENSG00000239776	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000188130	chromatin interactions
JUNB	Mature miRNA region
TCEAL1	Mature miRNA region
CDK1	Mature miRNA region
JUND	Mature miRNA region
HSPG2	Mature miRNA region

Extended variants
information (count: 368 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529054693	chr20:26187893-26187894	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs527659458	chr20:26187905-26187906	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs549118892	chr20:26187953-26187954	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs565872349	chr20:26187981-26187982	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs534899459	chr20:26187995-26187996	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs192966514	chr20:26188055-26188056	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs185237744	chr20:26188107-26188108	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs188722919	chr20:26188108-26188109	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs557097681	chr20:26188138-26188139	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs200926371	chr20:26188159-26188160	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs73109824	chr20:26188160-26188161	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539098621	chr20:26188181-26188182	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs542483201	chr20:26188201-26188202	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs555925509	chr20:26188204-26188205	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs143790684	chr20:26188207-26188208	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs191699988	chr20:26188211-26188212	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs564589888	chr20:26188242-26188243	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs533175837	chr20:26188244-26188245	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs543364478	chr20:26188258-26188259	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs372837069	chr20:26188272-26188273	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs563449054	chr20:26188275-26188276	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs529335131	chr20:26188295-26188296	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs6115563	chr20:26188303-26188304	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138717925	chr20:26188323-26188324	Weak transcription	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs528241893	chr20:26188340-26188341	Weak transcription	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs200515377	chr20:26188342-26188343	Weak transcription	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
27	rs551677988	chr20:26188346-26188347	Weak transcription	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
28	rs114187021	chr20:26188397-26188398	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs561282843	chr20:26188398-26188399	Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs531876896	chr20:26188415-26188416	Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs556987333	chr20:26188467-26188468	Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
32	rs567297724	chr20:26188548-26188549	Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
33	rs117640284	chr20:26188635-26188636	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
34	rs6051224	chr20:26188637-26188638	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
35	rs79527744	chr20:26188638-26188639	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
36	rs76281250	chr20:26188640-26188641	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
37	rs74577610	chr20:26188646-26188647	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
38	rs78979082	chr20:26188660-26188661	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
39	rs77035345	chr20:26188663-26188664	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
40	rs78016759	chr20:26188674-26188675	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
41	rs73352739	chr20:26188680-26188681	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
42	rs567416278	chr20:26188698-26188699	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
43	rs80095266	chr20:26188702-26188703	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
44	rs77905657	chr20:26188703-26188704	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
45	rs78745889	chr20:26188704-26188705	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
46	rs150676683	chr20:26188706-26188707	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
47	rs79630630	chr20:26188736-26188737	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs77970958	chr20:26188741-26188742	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs79465332	chr20:26188747-26188748	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs62196803	chr20:26188751-26188752	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26188200-26188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:26188200-26188600	Weak transcription	Right Atrium	heart
3	chr20:26188400-26188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:26188400-26189600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr20:26188600-26188800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:26188600-26188800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:26188600-26188800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:26188600-26188800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
9	chr20:26188600-26188800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr20:26188600-26188800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:26188600-26188800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
12	chr20:26188600-26188800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
13	chr20:26188600-26188800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr20:26188600-26188800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:26188600-26188800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
16	chr20:26188600-26188800	Bivalent Enhancer	Aorta	Aorta
17	chr20:26188600-26188800	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr20:26188600-26188800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr20:26188600-26188800	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr20:26188600-26188800	Bivalent Enhancer	Ovary	ovary
21	chr20:26188600-26188800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr20:26188600-26189000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr20:26188600-26189200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr20:26188600-26189200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:26188600-26189200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:26188600-26189400	Bivalent Enhancer	Placenta	Placenta
27	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
28	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Lung	lung
29	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
30	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
31	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
32	chr20:26188600-26189400	Flanking Bivalent TSS/Enh	Spleen	Spleen
33	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr20:26188600-26189600	Flanking Bivalent TSS/Enh	Gastric	stomach
39	chr20:26188600-26190400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr20:26188600-26190400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr20:26188600-26190400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr20:26188600-26190400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr20:26188600-26190400	ZNF genes & repeats	Esophagus	oesophagus
44	chr20:26188600-26190400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr20:26188600-26190400	ZNF genes & repeats	Dnd41	blood
46	chr20:26188600-26190400	ZNF genes & repeats	NHLF	lung
47	chr20:26188600-26190600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr20:26188600-26190600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr20:26188600-26190600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr20:26188600-26190600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links