Variant report

Variant	rs7130030
Chromosome Location	chr11:63933733-63933734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr11:63933375-63933846	K562	blood:	n/a	n/a
2	FOXA1	chr11:63933057-63934010	HepG2	liver:	n/a	chr11:63933532-63933547
3	MYC	chr11:63932393-63934237	K562	blood:	n/a	chr11:63932572-63932583 chr11:63932573-63932582 chr11:63932572-63932581 chr11:63932571-63932584 chr11:63932572-63932583 chr11:63932573-63932582 chr11:63932572-63932582 chr11:63932571-63932584 chr11:63932574-63932581 chr11:63932573-63932583 chr11:63932569-63932584 chr11:63932573-63932583 chr11:63932571-63932586
4	HEY1	chr11:63932265-63934257	K562	blood:	n/a	chr11:63933902-63933917 chr11:63933884-63933899 chr11:63932991-63933006
5	SRF	chr11:63933436-63934290	ECC-1	luminal epithelium:	n/a	chr11:63933467-63933477
6	ZNF143	chr11:63933397-63934097	GM12878	blood:	n/a	chr11:63933626-63933645 chr11:63933631-63933649 chr11:63934016-63934034 chr11:63933962-63933981
7	POLR2A	chr11:63933479-63934324	GM12878	blood:	n/a	n/a
8	ELF1	chr11:63932944-63934328	GM12878	blood:	n/a	chr11:63932994-63933006 chr11:63933905-63933917
9	E2F6	chr11:63933034-63934279	H1-hESC	embryonic stem cell:	n/a	chr11:63933472-63933481 chr11:63933596-63933605
10	POLR2A	chr11:63933311-63934034	GM18526	blood:	n/a	n/a
11	POLR2A	chr11:63932950-63934283	HL-60	blood:	n/a	n/a
12	SIN3AK20	chr11:63933069-63934463	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:63933123-63934168	NB4	blood:	n/a	n/a
14	POLR2A	chr11:63933289-63933931	Gliobla	brain:	n/a	n/a
15	TAF1	chr11:63933453-63934102	GM12878	blood:	n/a	n/a
16	CHD2	chr11:63933420-63934207	GM12878	blood:	n/a	n/a
17	SP1	chr11:63933280-63933932	A549	lung:	n/a	n/a
18	CTCF	chr11:63933620-63933770	HCPEpiC	choroid plexus:	n/a	n/a
19	FOXA2	chr11:63933325-63933771	HepG2	liver:	n/a	n/a
20	BACH1	chr11:63933060-63934327	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr11:63933410-63934215	T-47D	breast:	n/a	chr11:63933905-63933914 chr11:63933469-63933478 chr11:63933967-63933983 chr11:63933878-63933894
22	POLR2A	chr11:63933034-63934406	PFSK-1	brain:	n/a	n/a
23	MYC	chr11:63933036-63933827	HUVEC	blood vessel:	n/a	n/a
24	RFX5	chr11:63933454-63933890	HepG2	liver:	n/a	n/a
25	EGR1	chr11:63933206-63934344	HCT-116	colon:	n/a	chr11:63933698-63933708 chr11:63933626-63933650
26	POLR2A	chr11:63933341-63934075	IMR90	lung:	n/a	n/a
27	SIX5	chr11:63933443-63933955	A549	lung:	n/a	n/a
28	ETS1	chr11:63933367-63933883	GM12878	blood:	n/a	chr11:63933637-63933650 chr11:63933467-63933478
29	MAX	chr11:63933028-63934238	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT5A	chr11:63933326-63934265	GM12878	blood:	n/a	chr11:63934170-63934177 chr11:63934189-63934197
31	JUND	chr11:63933363-63933948	A549	lung:	n/a	n/a
32	ZBTB7A	chr11:63933000-63934278	ECC-1	luminal epithelium:	n/a	chr11:63933144-63933153
33	SP4	chr11:63933551-63933832	H1-hESC	embryonic stem cell:	n/a	n/a
34	ELF1	chr11:63933412-63934280	MCF-7	breast:	n/a	chr11:63933905-63933917
35	PML	chr11:63933356-63934286	MCF-7	breast:	n/a	chr11:63933984-63933992
36	POLR2A	chr11:63933402-63933970	GM12878	blood:	n/a	n/a
37	HDAC2	chr11:63933221-63934324	MCF-7	breast:	n/a	chr11:63933537-63933546
38	EGR1	chr11:63933528-63933749	GM12878	blood:	n/a	chr11:63933698-63933708 chr11:63933626-63933650
39	YY1	chr11:63933020-63934289	ECC-1	luminal epithelium:	n/a	chr11:63933593-63933607 chr11:63933472-63933481 chr11:63933101-63933115
40	MAX	chr11:63932278-63934237	Hela-S3	cervix:	n/a	chr11:63932572-63932583 chr11:63932573-63932582 chr11:63932572-63932581 chr11:63932571-63932584 chr11:63932572-63932583 chr11:63932573-63932582 chr11:63932572-63932582 chr11:63932571-63932584 chr11:63932574-63932581 chr11:63932573-63932583 chr11:63932569-63932584 chr11:63932573-63932583 chr11:63932571-63932586
41	MYC	chr11:63933031-63933899	K562	blood:	n/a	n/a
42	TCF7L2	chr11:63933634-63934151	Hela-S3	cervix:	n/a	n/a
43	NFIC	chr11:63933570-63933833	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:63933333-63934196	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOXA2	chr11:63933014-63934025	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:63933254-63934352	HCT-116	colon:	n/a	n/a
47	ZBTB7A	chr11:63932948-63934160	K562	blood:	n/a	chr11:63933144-63933153
48	TEAD4	chr11:63933465-63934314	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr11:63933129-63934243	HCT-116	colon:	n/a	n/a
50	MXI1	chr11:63933144-63934163	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63933701-63933751	PrEC	prostate:	n/a
2	chr11:63933701-63933751	LNCaP	prostate:	n/a
3	chr11:63933701-63933751	NH-A	brain:	n/a
4	chr11:63933701-63933751	SKMC	muscle:	n/a
5	chr11:63933701-63933751	ovcar-3	ovarian:	n/a
6	chr11:63933701-63933751	PANC-1	pancreas:	n/a
7	chr11:63933701-63933751	GM12878	blood:	n/a
8	chr11:63933701-63933751	Caco-2	colon:	n/a
9	chr11:63933701-63933751	A549	lung:	n/a
10	chr11:63933701-63933751	HIPEpiC	eye:	n/a
11	chr11:63933701-63933751	SAEC	small airway:	n/a
12	chr11:63933701-63933751	AoSMC	blood vessel:	n/a
13	chr11:63933701-63933751	HCT-116	colon:	n/a
14	chr11:63933701-63933751	ECC-1	luminal epithelium:	n/a
15	chr11:63933701-63933751	HepG2	liver:	n/a
16	chr11:63933701-63933751	K562	blood:	n/a
17	chr11:63933701-63933751	SK-N-MC	brain:	n/a
18	chr11:63933701-63933751	PFSK-1	brain:	n/a
19	chr11:63933701-63933751	AG04449	skin:	fetal
20	chr11:63933701-63933751	T-47D	breast:	n/a
21	chr11:63933701-63933751	GM12891	blood:	n/a
22	chr11:63933701-63933751	GM19239	blood:	n/a
23	chr11:63933701-63933751	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:63933701-63933751	ProgFib	skin:	n/a
25	chr11:63933701-63933751	SK-N-SH	brain:	n/a
26	chr11:63933701-63933751	HCPEpiC	choroid plexus:	n/a
27	chr11:63933701-63933751	NHDF-neo	bronchial:	n/a
28	chr11:63933701-63933751	CMK	blood:	n/a
29	chr11:63933701-63933751	Jurkat	blood:	n/a
30	chr11:63933701-63933751	AG09319	gingival:	n/a
31	chr11:63933701-63933751	U87	brain:	n/a
32	chr11:63933701-63933751	HUVEC	blood vessel:	n/a
33	chr11:63933701-63933751	RPTEC	kidney:	n/a
34	chr11:63933701-63933751	AG10803	skin:	n/a
35	chr11:63933701-63933751	HCM	heart:	n/a
36	chr11:63933701-63933751	Hela-S3	cervix:	n/a
37	chr11:63933701-63933751	GM12892	blood:	n/a
38	chr11:63933701-63933751	NT2-D1	testis:	n/a
39	chr11:63933701-63933751	GM06990	blood:	n/a
40	chr11:63933701-63933751	HAEpiC	amniotic membrane:	n/a
41	chr11:63933701-63933751	HRPEpiC	eye:	n/a
42	chr11:63933701-63933751	AG09309	skin:	n/a
43	chr11:63933701-63933751	MCF-7	breast:	n/a
44	chr11:63933701-63933751	Hepatocyte	liver:	n/a
45	chr11:63933701-63933751	BE2_C	brain:	n/a
46	chr11:63933701-63933751	HMEC	breast:	n/a
47	chr11:63933701-63933751	HEEpiC	esophagus:	n/a
48	chr11:63933701-63933751	HNPCEpiC	eye:	n/a
49	chr11:63933701-63933751	SK-N-SH_RA	brain:	n/a
50	chr11:63933701-63933751	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63932716..63934743-chr11:64051710..64053463,2	K562	blood:
2	chr11:63932632..63935000-chr11:64083723..64085897,3	K562	blood:
3	chr11:63932104..63935640-chr11:64072605..64074491,3	MCF-7	breast:
4	chr11:63930168..63934783-chr11:64013330..64015860,5	MCF-7	breast:
5	chr11:63766001..63768236-chr11:63932252..63933831,2	MCF-7	breast:
6	chr11:63752685..63755031-chr11:63931416..63935122,4	MCF-7	breast:
7	chr10:70091758..70092606-chr11:63933507..63934189,2	NB4	blood:
8	chr11:63932754..63935809-chr11:63963316..63968184,5	MCF-7	breast:
9	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
10	chr11:63932555..63934591-chr11:64062917..64065947,3	MCF-7	breast:
11	chr11:63933268..63934996-chr11:64053626..64055323,2	MCF-7	breast:
12	chr11:63929784..63936274-chr11:63944807..63955078,25	K562	blood:
13	chr11:63752447..63754904-chr11:63931048..63933995,2	MCF-7	breast:
14	chr11:63606175..63608969-chr11:63932687..63934753,2	MCF-7	breast:
15	chr11:63932620..63934152-chr11:64110470..64112736,2	MCF-7	breast:
16	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:
17	chr11:63932237..63935005-chr11:63969874..63971968,3	MCF-7	breast:
18	chr11:63930758..63935103-chr11:64018023..64022943,7	MCF-7	breast:
19	chr11:63933088..63933949-chr5:141303271..141303888,2	Hela-S3	cervix:
20	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
21	chr11:63933577..63934576-chr5:56205235..56206201,2	MCF-7	breast:
22	chr11:63931926..63934218-chr11:63996442..63998414,3	MCF-7	breast:
23	chr11:63932116..63935124-chr11:64007812..64010252,3	MCF-7	breast:
24	chr11:63932568..63935141-chr11:63993755..63995910,2	MCF-7	breast:
25	chr11:63931987..63935535-chr11:64083979..64087332,4	K562	blood:
26	chr11:63437518..63440264-chr11:63931610..63934606,2	MCF-7	breast:
27	chr11:63933158..63934001-chr4:39460046..39460546,2	NB4	blood:
28	chr11:62553848..62556326-chr11:63932542..63934874,2	MCF-7	breast:
29	chr11:63933599..63935402-chr11:64009536..64011698,2	K562	blood:
30	chr11:63929784..63936174-chr11:63947045..63954638,30	K562	blood:
31	chr11:63932241..63934493-chr11:63974004..63976708,3	K562	blood:
32	chr11:63765613..63767970-chr11:63932144..63934171,3	MCF-7	breast:
33	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
34	chr11:63932093..63937108-chr11:64035404..64039498,5	MCF-7	breast:
35	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
36	chr11:63931721..63935529-chr11:64007238..64009855,5	MCF-7	breast:
37	chr11:63752663..63755059-chr11:63933648..63935350,2	K562	blood:
38	chr11:63886159..63888775-chr11:63931578..63933986,2	MCF-7	breast:
39	chr11:63932405..63934131-chr11:64004230..64006451,2	MCF-7	breast:

Variant related genes	Relation type
MACROD1	TF binding region
MACROD1	CpG island
ENSG00000173113	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000155542	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000081791	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000110011	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000163682	Chromatin interaction
ENSG00000184743	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000256341	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000207024	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1058735	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1059440	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231701	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11601024	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11601577	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11602181	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11603212	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11605738	0.82[AFR][1000 genomes]
rs11606544	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607007	0.90[EUR][1000 genomes]
rs11607144	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11607165	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418035	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12574258	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575642	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12787852	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794145	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12797120	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12798333	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12802950	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015226	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070765	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2154986	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282490	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2875749	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34089806	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34113693	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34838337	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35090903	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35095324	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35458188	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35524387	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35858916	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802933	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3824854	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58632573	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591837	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66648159	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67546972	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7102327	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111278	0.82[AFR][1000 genomes]
rs7112277	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71479474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72918475	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72920332	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7478730	0.82[AFR][1000 genomes]
rs7939784	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7944061	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952318	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882146	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
17	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7130030	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs7130030	TRPT1	cis	Muscle Skeletal	GTEx
rs7130030	PPP1R14B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63931600-63934400	Enhancers	Fetal Brain Male	brain
2	chr11:63932000-63934400	Active TSS	Psoas Muscle	Psoas
3	chr11:63932400-63934200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:63932400-63934200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:63932600-63934400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:63932600-63934400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:63932600-63934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:63932600-63934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:63932800-63933800	Active TSS	Right Ventricle	heart
10	chr11:63932800-63934000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:63932800-63934200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:63932800-63934400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:63932800-63934400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:63932800-63934400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:63932800-63934400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:63932800-63934400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:63932800-63934400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:63932800-63934400	Active TSS	Thymus	Thymus
19	chr11:63932800-63934600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:63933000-63933800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:63933000-63933800	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr11:63933000-63933800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:63933000-63933800	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:63933000-63933800	Active TSS	Brain Germinal Matrix	brain
25	chr11:63933000-63933800	Active TSS	Brain Substantia Nigra	brain
26	chr11:63933000-63933800	Active TSS	Left Ventricle	heart
27	chr11:63933000-63933800	Active TSS	Stomach Mucosa	stomach
28	chr11:63933000-63933800	Active TSS	NH-A	brain
29	chr11:63933000-63934000	Active TSS	Primary T cells from cord blood	blood
30	chr11:63933000-63934000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr11:63933000-63934000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:63933000-63934000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:63933000-63934000	Active TSS	Brain Angular Gyrus	brain
34	chr11:63933000-63934000	Active TSS	Brain Anterior Caudate	brain
35	chr11:63933000-63934000	Active TSS	Fetal Intestine Large	intestine
36	chr11:63933000-63934000	Active TSS	Fetal Intestine Small	intestine
37	chr11:63933000-63934000	Active TSS	Fetal Lung	lung
38	chr11:63933000-63934000	Active TSS	Ovary	ovary
39	chr11:63933000-63934000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr11:63933000-63934000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr11:63933000-63934000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:63933000-63934000	Active TSS	GM12878-XiMat	blood
43	chr11:63933000-63934000	Active TSS	K562	blood
44	chr11:63933000-63934000	Active TSS	NHEK	skin
45	chr11:63933000-63934200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63933000-63934200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:63933000-63934200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:63933000-63934200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:63933000-63934200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:63933000-63934200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links