Variant report

Variant	nsv1046086
Chromosome Location	chr11:59520424-59561455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1519)
CpG islands
(count:732)
Chromatin interactive
region (count:80)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:59554193-59554755	K562	blood:	n/a	n/a
2	ARID3A	chr11:59534580-59535056	K562	blood:	n/a	n/a
3	ARID3A	chr11:59523254-59523785	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:59543702-59544395	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:59524418-59524618	K562	blood:	n/a	n/a
6	ARID3A	chr11:59554417-59554796	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:59523419-59523921	K562	blood:	n/a	n/a
8	ARID3A	chr11:59521549-59521749	K562	blood:	n/a	n/a
9	ATF1	chr11:59534667-59535032	K562	blood:	n/a	n/a
10	ATF1	chr11:59554302-59554879	K562	blood:	n/a	n/a
11	ATF1	chr11:59543970-59544239	K562	blood:	n/a	n/a
12	ATF2	chr11:59521445-59521896	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr11:59521454-59521976	GM12878	blood:	n/a	n/a
14	ATF2	chr11:59521422-59521868	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr11:59523431-59523657	K562	blood:	n/a	n/a
16	ATF3	chr11:59543841-59544430	A549	lung:	n/a	n/a
17	ATF3	chr11:59543997-59544265	K562	blood:	n/a	n/a
18	ATF3	chr11:59523117-59523395	K562	blood:	n/a	n/a
19	ATF3	chr11:59523170-59523502	K562	blood:	n/a	n/a
20	ATF3	chr11:59521495-59521831	K562	blood:	n/a	n/a
21	BACH1	chr11:59522316-59522839	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr11:59521481-59521838	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr11:59524392-59524707	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr11:59524098-59524690	K562	blood:	n/a	n/a
25	BATF	chr11:59524441-59524676	GM12878	blood:	n/a	chr11:59524540-59524551
26	BATF	chr11:59544021-59544243	GM12878	blood:	n/a	n/a
27	BATF	chr11:59524405-59524623	GM12878	blood:	n/a	chr11:59524540-59524551
28	BHLHE40	chr11:59534055-59534397	K562	blood:	n/a	n/a
29	BHLHE40	chr11:59544003-59544293	K562	blood:	n/a	n/a
30	BHLHE40	chr11:59534711-59535016	K562	blood:	n/a	n/a
31	BHLHE40	chr11:59521493-59521818	GM12878	blood:	n/a	n/a
32	BHLHE40	chr11:59539767-59539811	K562	blood:	n/a	n/a
33	BHLHE40	chr11:59523092-59523651	HepG2	liver:	n/a	n/a
34	BHLHE40	chr11:59523246-59523639	A549	lung:	n/a	n/a
35	BHLHE40	chr11:59555425-59555457	K562	blood:	n/a	n/a
36	BHLHE40	chr11:59554250-59554872	K562	blood:	n/a	n/a
37	BHLHE40	chr11:59521511-59523765	K562	blood:	n/a	chr11:59522833-59522849
38	BHLHE40	chr11:59524324-59524737	K562	blood:	n/a	n/a
39	BHLHE40	chr11:59543919-59544331	HepG2	liver:	n/a	n/a
40	BRCA1	chr11:59543966-59544292	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr11:59523192-59523757	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr11:59522313-59522619	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr11:59521602-59521603	GM12878	blood:	n/a	n/a
44	CBX3	chr11:59551882-59552263	K562	blood:	n/a	n/a
45	CBX3	chr11:59521296-59522730	K562	blood:	n/a	n/a
46	CBX3	chr11:59543851-59544380	HCT-116	colon:	n/a	n/a
47	CBX3	chr11:59523076-59523821	K562	blood:	n/a	n/a
48	CBX3	chr11:59534031-59534477	K562	blood:	n/a	n/a
49	CBX3	chr11:59554298-59555026	HCT-116	colon:	n/a	n/a
50	CBX3	chr11:59521461-59521771	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59522827-59522877	MCF10A-Er-Src	breast:	n/a
2	chr11:59521722-59521772	HUVEC	blood vessel:	n/a
3	chr11:59522917-59522967	AG04449	skin:	fetal
4	chr11:59522087-59522137	HAEpiC	amniotic membrane:	n/a
5	chr11:59522917-59522967	A549	lung:	n/a
6	chr11:59521722-59521772	HNPCEpiC	eye:	n/a
7	chr11:59522087-59522137	SKMC	muscle:	n/a
8	chr11:59521791-59521841	HUVEC	blood vessel:	n/a
9	chr11:59521722-59521772	Hela-S3	cervix:	n/a
10	chr11:59522917-59522967	NHDF-neo	bronchial:	n/a
11	chr11:59522087-59522137	K562	blood:	n/a
12	chr11:59522542-59522592	PrEC	prostate:	n/a
13	chr11:59522087-59522137	NT2-D1	testis:	n/a
14	chr11:59521665-59521715	AG10803	skin:	n/a
15	chr11:59521722-59521772	NT2-D1	testis:	n/a
16	chr11:59522917-59522967	MCF-7	breast:	n/a
17	chr11:59522822-59522872	BJ	skin:	n/a
18	chr11:59521791-59521841	Hepatocyte	liver:	n/a
19	chr11:59522917-59522967	PFSK-1	brain:	n/a
20	chr11:59554873-59554923	SK-N-MC	brain:	n/a
21	chr11:59522542-59522592	HUVEC	blood vessel:	n/a
22	chr11:59554873-59554923	HUVEC	blood vessel:	n/a
23	chr11:59522827-59522877	HCPEpiC	choroid plexus:	n/a
24	chr11:59521665-59521715	ECC-1	luminal epithelium:	n/a
25	chr11:59522822-59522872	SK-N-SH	brain:	n/a
26	chr11:59522917-59522967	AG10803	skin:	n/a
27	chr11:59522917-59522967	SK-N-MC	brain:	n/a
28	chr11:59522827-59522877	HCM	heart:	n/a
29	chr11:59522542-59522592	BJ	skin:	n/a
30	chr11:59554873-59554923	AG04449	skin:	fetal
31	chr11:59523399-59523449	MCF-7	breast:	n/a
32	chr11:59554873-59554923	GM12891	blood:	n/a
33	chr11:59521665-59521715	MCF-7	breast:	n/a
34	chr11:59521791-59521841	HAEpiC	amniotic membrane:	n/a
35	chr11:59521791-59521841	HRCEpiC	kidney:	n/a
36	chr11:59522827-59522877	Jurkat	blood:	n/a
37	chr11:59521722-59521772	HCF	heart:	n/a
38	chr11:59522822-59522872	HepG2	liver:	n/a
39	chr11:59522822-59522872	PANC-1	pancreas:	n/a
40	chr11:59521665-59521715	Hela-S3	cervix:	n/a
41	chr11:59523399-59523449	HRPEpiC	eye:	n/a
42	chr11:59522827-59522877	T-47D	breast:	n/a
43	chr11:59522822-59522872	HCT-116	colon:	n/a
44	chr11:59523399-59523449	HCF	heart:	n/a
45	chr11:59522542-59522592	HL-60	blood:	n/a
46	chr11:59521791-59521841	RPTEC	kidney:	n/a
47	chr11:59522827-59522877	HCT-116	colon:	n/a
48	chr11:59521722-59521772	GM19239	blood:	n/a
49	chr11:59522542-59522592	SAEC	small airway:	n/a
50	chr11:59522542-59522592	HPAEpiC	pulmonary alveolar:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:59434813..59437700-chr11:59527969..59532130,3	K562	blood:
2	chr11:59528800..59530439-chr11:59536843..59538361,2	K562	blood:
3	chr11:59527952..59530580-chr11:59535251..59538243,2	MCF-7	breast:
4	chr11:59523011..59526082-chr11:59538557..59541399,3	K562	blood:
5	chr11:59524561..59526544-chr11:59527654..59529309,2	K562	blood:
6	chr11:59541540..59544467-chr11:59549090..59551972,2	MCF-7	breast:
7	chr11:59480505..59482058-chr11:59521372..59523220,2	MCF-7	breast:
8	chr11:59557765..59559673-chr11:59564880..59566549,2	K562	blood:
9	chr11:59524470..59526644-chr11:59576559..59579477,2	K562	blood:
10	chr11:59521347..59522076-chr11:59577896..59578446,2	MCF-7	breast:
11	chr1:114300956..114303148-chr11:59521456..59522999,2	MCF-7	breast:
12	chr11:59543737..59545561-chr11:59553560..59556488,3	MCF-7	breast:
13	chr11:59525592..59530085-chr11:59541874..59544413,4	MCF-7	breast:
14	chr11:59479954..59482315-chr11:59521677..59523287,2	K562	blood:
15	chr11:59532568..59535193-chr11:59553721..59556232,2	MCF-7	breast:
16	chr11:59533196..59536602-chr11:59539532..59544445,5	MCF-7	breast:
17	chr11:59534794..59538075-chr11:59541360..59543900,3	MCF-7	breast:
18	chr11:59434314..59436454-chr11:59523129..59524749,2	MCF-7	breast:
19	chr11:59520214..59524923-chr11:59576549..59579669,4	MCF-7	breast:
20	chr11:59520935..59525781-chr11:59552803..59557885,8	MCF-7	breast:
21	chr11:59533582..59535558-chr11:59538883..59542385,3	K562	blood:
22	chr11:59525592..59530085-chr11:59541874..59544413,4	MCF-7	breast:
23	chr11:59557627..59559714-chr11:59622962..59625608,2	MCF-7	breast:
24	chr11:59521037..59522134-chr11:59569735..59571070,7	MCF-7	breast:
25	chr11:59553096..59555024-chr11:59556824..59559677,2	K562	blood:
26	chr11:59536748..59539443-chr11:59541723..59543400,2	MCF-7	breast:
27	chr11:59556392..59558299-chr11:59566881..59569624,2	MCF-7	breast:
28	chr11:59521605..59525070-chr11:59543036..59549785,6	MCF-7	breast:
29	chr11:59514703..59516740-chr11:59522091..59524203,2	MCF-7	breast:
30	chr11:59435275..59437958-chr11:59523274..59525120,2	K562	blood:
31	chr11:59560226..59562166-chr11:59576815..59579277,2	MCF-7	breast:
32	chr11:59338335..59341054-chr11:59523391..59525087,2	K562	blood:
33	chr11:59545569..59549686-chr11:59550109..59554900,5	MCF-7	breast:
34	chr11:59534862..59537569-chr11:59577750..59579659,2	K562	blood:
35	chr11:59513939..59516832-chr11:59518797..59521533,2	K562	blood:
36	chr11:59436132..59436823-chr11:59522370..59523215,2	Hela-S3	cervix:
37	chr11:59520935..59525781-chr11:59552803..59557885,8	MCF-7	breast:
38	chr11:59521565..59522093-chr11:59577744..59578503,3	K562	blood:
39	chr11:59435310..59437801-chr11:59549500..59552622,3	K562	blood:
40	chr11:59522400..59524393-chr11:59558418..59560308,2	MCF-7	breast:
41	chr11:59527952..59530580-chr11:59535251..59538243,2	MCF-7	breast:
42	chr11:59519722..59526041-chr11:59575307..59578961,7	MCF-7	breast:
43	chr11:59524342..59526503-chr11:59895914..59898117,2	K562	blood:
44	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
45	chr11:59528968..59531092-chr11:59531275..59534785,3	MCF-7	breast:
46	chr1:114301552..114304210-chr11:59521950..59524919,2	MCF-7	breast:
47	chr11:59521192..59521888-chr11:59568592..59569530,2	MCF-7	breast:
48	chr11:59522643..59524451-chr16:67197812..67200302,2	MCF-7	breast:
49	chr11:59537545..59539274-chr11:59543031..59545057,2	K562	blood:
50	chr11:59521183..59522129-chr11:59897665..59898553,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10V1-1	chr11:59520488-59520670	ENSG00000254477.1
2	lnc-MRPL16-2	chr11:59537829-59537994	NONHSAT021543
3	lnc-MRPL16-2	chr11:59537334-59537765	NONHSAT021543
4	lnc-OR10V1-1	chr11:59521753-59522448	ENSG00000254477.1

No data

Variant related genes	Relation type
STX3	TF binding region
ENSG00000254477	TF binding region
FABP5P7	TF binding region
STX3	CpG island
ENSG00000254477	CpG island
FABP5P7	CpG island
ENSG00000255355	chromatin interactions
ENSG00000166900	chromatin interactions
ENSG00000172289	chromatin interactions
ENSG00000234964	chromatin interactions
ENSG00000254477	chromatin interactions
ENSG00000116793	chromatin interactions
ENSG00000255538	chromatin interactions
ENSG00000102878	chromatin interactions
ENSG00000255139	chromatin interactions
ENSG00000166902	chromatin interactions
ENSG00000265690	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000110048	chromatin interactions

Extended variants
information (count: 1599 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1599 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191656151	chr11:59520452-59520453	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563800	chr11:59520568-59520569	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs479264	chr11:59520593-59520594	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528837259	chr11:59520626-59520627	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs184969768	chr11:59520688-59520689	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188092354	chr11:59520697-59520698	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144042359	chr11:59520735-59520736	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs193075486	chr11:59520807-59520808	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140062187	chr11:59520827-59520828	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185326174	chr11:59520832-59520833	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375957085	chr11:59520833-59520834	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547837775	chr11:59520837-59520838	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142059654	chr11:59520938-59520939	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs146343931	chr11:59520947-59520948	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs369020790	chr11:59520993-59520994	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs12808741	chr11:59521016-59521017	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs576711667	chr11:59521051-59521052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs570322	chr11:59521055-59521056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs12807552	chr11:59521077-59521078	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564194	chr11:59521080-59521081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs536869793	chr11:59521081-59521082	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs189315547	chr11:59521084-59521085	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs576561191	chr11:59521121-59521122	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540622004	chr11:59521166-59521167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs569326	chr11:59521177-59521178	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572175420	chr11:59521214-59521215	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs574104623	chr11:59521279-59521280	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs543260424	chr11:59521283-59521284	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs561443928	chr11:59521312-59521313	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs531898042	chr11:59521321-59521322	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs12573870	chr11:59521358-59521359	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs181892760	chr11:59521360-59521361	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs511785	chr11:59521461-59521462	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567857018	chr11:59521487-59521488	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs576212387	chr11:59521490-59521491	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs113007968	chr11:59521498-59521499	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs74392101	chr11:59521511-59521512	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs563893211	chr11:59521525-59521526	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs566036326	chr11:59521568-59521569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs74997438	chr11:59521569-59521570	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs142843474	chr11:59521581-59521582	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs369405212	chr11:59521587-59521588	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs510122	chr11:59521627-59521628	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377646305	chr11:59521639-59521640	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs77952732	chr11:59521648-59521649	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs558520619	chr11:59521650-59521651	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs576521019	chr11:59521651-59521652	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs558569	chr11:59521704-59521705	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563769610	chr11:59521705-59521706	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs183487827	chr11:59521712-59521713	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59517000-59521200	Weak transcription	K562	blood
2	chr11:59517800-59521200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:59518600-59521000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:59519000-59521600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:59519200-59521200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:59519600-59521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:59520000-59521600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:59520200-59521200	Enhancers	Fetal Intestine Large	intestine
9	chr11:59520400-59521200	Enhancers	Fetal Intestine Small	intestine
10	chr11:59521000-59521200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:59521000-59521200	Enhancers	Small Intestine	intestine
12	chr11:59521000-59521400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:59521000-59521400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:59521000-59521600	Enhancers	Colonic Mucosa	Colon
15	chr11:59521000-59521600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr11:59521000-59521600	Enhancers	Placenta	Placenta
17	chr11:59521200-59521400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:59521200-59521400	Enhancers	Primary B cells from cord blood	blood
19	chr11:59521200-59521400	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr11:59521200-59521400	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr11:59521200-59521400	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:59521200-59521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:59521200-59521600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:59521200-59521600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:59521200-59521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:59521200-59521600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:59521200-59521600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:59521200-59521600	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:59521200-59521600	Enhancers	Brain Hippocampus Middle	brain
30	chr11:59521200-59521600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:59521200-59521600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:59521200-59521600	Enhancers	K562	blood
33	chr11:59521200-59522000	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:59521200-59523600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:59521400-59521600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:59521400-59521600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:59521400-59521600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:59521400-59521600	Active TSS	Primary hematopoietic stem cells	blood
39	chr11:59521400-59521600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:59521400-59521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:59521400-59521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:59521400-59521600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:59521400-59521600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:59521400-59521600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:59521400-59521600	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr11:59521400-59521600	Enhancers	Fetal Thymus	thymus
47	chr11:59521400-59521600	Enhancers	Thymus	Thymus
48	chr11:59521400-59521600	Enhancers	Dnd41	blood
49	chr11:59521400-59521600	Enhancers	GM12878-XiMat	blood
50	chr11:59521400-59521600	Enhancers	HSMM	muscle

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