Variant report

Variant	rs1211975
Chromosome Location	chr11:64885524-64885525
allele	A/G
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	MAX	chr11:64884012-64885667	HepG2	liver:	n/a	chr11:64885269-64885278
2	CTCF	chr11:64885380-64885530	GM12869	blood:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
3	TRIM28	chr11:64884766-64885642	K562	blood:	n/a	n/a
4	CTCF	chr11:64885318-64885543	GM13977	blood:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
5	POLR2A	chr11:64884555-64885580	HepG2	liver:	n/a	n/a
6	E2F6	chr11:64883750-64885555	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:64884830-64885594	Hela-S3	cervix:	n/a	chr11:64885269-64885278
8	EGR1	chr11:64884814-64885582	MCF-7	breast:	n/a	chr11:64885268-64885279 chr11:64885267-64885280 chr11:64885268-64885278 chr11:64885268-64885277 chr11:64885268-64885279 chr11:64885267-64885280 chr11:64885266-64885281 chr11:64885267-64885280 chr11:64885266-64885280 chr11:64885268-64885278 chr11:64885267-64885280 chr11:64885262-64885284
9	CTCF	chr11:64885287-64885566	HepG2	liver:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
10	CTCF	chr11:64885258-64885620	GM19238	blood:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
11	JUN	chr11:64884129-64885655	K562	blood:	n/a	chr11:64885359-64885372
12	POLR2A	chr11:64884048-64885688	HUVEC	blood vessel:	n/a	n/a
13	CHD1	chr11:64884706-64885584	GM12878	blood:	n/a	n/a
14	CTCF	chr11:64885380-64885530	HEK293	kidney:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
15	EP300	chr11:64884649-64885634	ECC-1	luminal epithelium:	n/a	chr11:64885198-64885205 chr11:64885177-64885184
16	POLR2A	chr11:64884197-64885566	GM15510	blood:	n/a	n/a
17	SP1	chr11:64884800-64885617	GM12878	blood:	n/a	chr11:64885264-64885275 chr11:64885289-64885299 chr11:64885348-64885357 chr11:64885288-64885300 chr11:64885289-64885303 chr11:64885289-64885298
18	ELF1	chr11:64884032-64885673	MCF-7	breast:	n/a	chr11:64885175-64885188 chr11:64885176-64885187 chr11:64885196-64885209 chr11:64885198-64885207 chr11:64885177-64885186 chr11:64885197-64885208
19	MYC	chr11:64885019-64885551	HUVEC	blood vessel:	n/a	chr11:64885269-64885278
20	STAT3	chr11:64885078-64885567	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT5A	chr11:64884084-64885777	GM12878	blood:	n/a	chr11:64884981-64885005
22	CREB1	chr11:64884975-64885641	ECC-1	luminal epithelium:	n/a	chr11:64885407-64885420
23	CTCF	chr11:64885284-64885585	Medullo	brain:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
24	FOXM1	chr11:64884554-64885706	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64884063-64885547	K562	blood:	n/a	n/a
26	RAD21	chr11:64885187-64885620	IMR90	lung:	n/a	chr11:64885411-64885430
27	USF1	chr11:64884743-64885648	ECC-1	luminal epithelium:	n/a	chr11:64885212-64885228
28	CTCF	chr11:64885279-64885567	HUVEC	blood vessel:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
29	POLR2A	chr11:64881621-64885776	GM12891	blood:	n/a	n/a
30	HEY1	chr11:64884814-64885554	K562	blood:	n/a	chr11:64885212-64885227
31	CTCF	chr11:64884623-64886178	SK-N-SH	brain:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
32	POU2F2	chr11:64884199-64885634	GM12891	blood:	n/a	n/a
33	FOXP2	chr11:64884638-64885574	PFSK-1	brain:	n/a	n/a
34	POU2F2	chr11:64884865-64885524	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr11:64884853-64885548	K562	blood:	n/a	chr11:64885269-64885278
37	POLR2A	chr11:64884208-64885660	GM12878	blood:	n/a	n/a
38	CTCF	chr11:64884975-64885813	HCT-116	colon:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
39	TCF12	chr11:64883940-64885757	A549	lung:	n/a	n/a
40	PBX3	chr11:64884110-64885795	SK-N-SH	brain:	n/a	n/a
41	ZBTB33	chr11:64884425-64885645	SK-N-SH	brain:	n/a	n/a
42	YY1	chr11:64884549-64885565	SK-N-SH_RA	brain:	n/a	n/a
43	ZC3H11A	chr11:64884930-64885634	K562	blood:	n/a	n/a
44	SMC3	chr11:64885212-64885624	GM12878	blood:	n/a	chr11:64885415-64885429
45	RELA	chr11:64884436-64885597	GM18951	blood:	n/a	n/a
46	POLR2A	chr11:64884894-64885661	K562	blood:	n/a	n/a
47	POLR2A	chr11:64884511-64885655	NB4	blood:	n/a	n/a
48	CEBPD	chr11:64884301-64885608	HepG2	liver:	n/a	n/a
49	CTCF	chr11:64885265-64885587	GM12878	blood:	n/a	chr11:64885413-64885431 chr11:64885414-64885430 chr11:64885408-64885429 chr11:64885419-64885428
50	YY1	chr11:64884697-64885579	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64787248..64789903-chr11:64884461..64886081,2	MCF-7	breast:
2	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
3	chr11:64518183..64520381-chr11:64885298..64887105,2	MCF-7	breast:
4	chr11:64544771..64547407-chr11:64885220..64887058,2	K562	blood:
5	chr11:64885364..64887354-chr11:64972176..64974076,2	MCF-7	breast:
6	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
7	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
8	chr11:64884104..64886722-chr11:65028926..65030544,2	MCF-7	breast:
9	chr11:64781092..64781604-chr11:64884776..64885809,3	MCF-7	breast:
10	chr11:64884757..64886643-chr17:56708077..56710553,2	MCF-7	breast:
11	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
12	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
13	chr11:64884402..64886500-chr12:56223721..56226196,2	MCF-7	breast:
14	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
15	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
16	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
17	chr11:64793866..64796535-chr11:64884856..64887631,3	K562	blood:
18	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
19	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
20	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
21	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
22	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
23	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
24	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
25	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
26	chr11:64884386..64886553-chr6:30687642..30689654,2	MCF-7	breast:
27	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
28	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
29	chr11:64885214..64885807-chr11:64947998..64948996,2	MCF-7	breast:
30	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
31	chr11:64569285..64571691-chr11:64884123..64886254,2	MCF-7	breast:
32	chr11:64884687..64887195-chr19:13260976..13262703,2	MCF-7	breast:
33	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
34	chr11:64780781..64781742-chr11:64884944..64885528,2	K562	blood:
35	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
36	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
37	chr11:64884257..64886940-chr11:64972599..64976618,4	MCF-7	breast:
38	chr11:64883635..64887153-chr11:65027849..65031198,3	MCF-7	breast:
39	chr11:64614199..64615154-chr11:64885251..64886233,4	MCF-7	breast:

Variant related genes	Relation type
MRPL49	TF binding region
ZNHIT2	TF binding region
ENSG00000182796	Chromatin interaction
ENSG00000160888	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000104915	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs1149569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1149570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195958	0.82[CEU][hapmap];0.90[MEX][hapmap]
rs1195959	0.82[CEU][hapmap];0.90[MEX][hapmap]
rs1195975	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1195976	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195977	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195978	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196049	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209621	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1300836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546532	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370165	0.90[ASN][1000 genomes]
rs2670910	0.94[GIH][hapmap]
rs3819049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850948	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3896078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs491465	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs495820	0.94[GIH][hapmap]
rs495935	0.94[GIH][hapmap]
rs500464	0.90[GIH][hapmap]
rs508375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542175	0.94[GIH][hapmap]
rs550771	0.94[GIH][hapmap]
rs584698	0.93[GIH][hapmap]
rs664118	0.94[GIH][hapmap]
rs7939766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64882200-64886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:64883400-64885600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:64883800-64885600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:64884000-64885600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:64884000-64885600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:64884200-64885600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:64884200-64885600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:64884200-64885600	Active TSS	Fetal Kidney	kidney
9	chr11:64884400-64885600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:64884400-64885600	Active TSS	A549	lung
11	chr11:64884400-64885600	Active TSS	HSMM	muscle
12	chr11:64884400-64885800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:64884600-64885600	Active TSS	GM12878-XiMat	blood
14	chr11:64884600-64885600	Active TSS	Hela-S3	cervix
15	chr11:64884600-64885800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:64884800-64885600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:64884800-64885600	Active TSS	Brain Germinal Matrix	brain
18	chr11:64884800-64885600	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:64884800-64885600	Active TSS	Spleen	Spleen
20	chr11:64885000-64885600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:64885200-64885600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:64885200-64885600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:64885200-64885600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:64885200-64885600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:64885200-64885600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:64885200-64885600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:64885200-64885600	Weak transcription	Colonic Mucosa	Colon
28	chr11:64885200-64885600	Weak transcription	Lung	lung
29	chr11:64885200-64885600	Enhancers	HUVEC	blood vessel
30	chr11:64885200-64885800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64885200-64885800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:64885200-64885800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:64885200-64885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:64885200-64885800	Enhancers	Liver	Liver
35	chr11:64885200-64885800	Enhancers	Brain Hippocampus Middle	brain
36	chr11:64885200-64885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:64885200-64885800	Weak transcription	NHEK	skin
38	chr11:64885200-64886000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:64885200-64886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:64885200-64886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:64885200-64886000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:64885200-64886000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:64885200-64886000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:64885200-64886000	Enhancers	Fetal Heart	heart
45	chr11:64885200-64886000	Weak transcription	Stomach Mucosa	stomach
46	chr11:64885200-64886000	Weak transcription	HMEC	breast
47	chr11:64885200-64886200	Weak transcription	Primary T cells from cord blood	blood
48	chr11:64885200-64886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:64885200-64886200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:64885200-64886200	Weak transcription	Left Ventricle	heart

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