Variant report

Variant	rs66536570
Chromosome Location	chr11:9994467-9994468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:9994316-9994959	HCT-116	colon:	n/a	n/a
2	RAD21	chr11:9994375-9994884	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr11:9994233-9995478	SK-N-SH	brain:	n/a	chr11:9995207-9995217
4	RAD21	chr11:9994444-9994778	K562	blood:	n/a	n/a
5	RAD21	chr11:9994403-9994848	IMR90	lung:	n/a	n/a
6	MYC	chr11:9994438-9994658	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr11:9994369-9994734	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr11:9994238-9995005	A549	lung:	n/a	n/a
9	CTCF	chr11:9994218-9995087	A549	lung:	n/a	n/a
10	RAD21	chr11:9994291-9994886	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:9994383-9994860	A549	lung:	n/a	n/a
12	SMC3	chr11:9994423-9994835	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr11:9994446-9994834	HepG2	liver:	n/a	n/a
14	CTCF	chr11:9994412-9994797	A549	lung:	n/a	n/a
15	RAD21	chr11:9994421-9994847	HepG2	liver:	n/a	n/a
16	RAD21	chr11:9994385-9994745	SK-N-SH_RA	brain:	n/a	n/a
17	RAD21	chr11:9994424-9994811	HepG2	liver:	n/a	n/a
18	RAD21	chr11:9994422-9994835	GM12878	blood:	n/a	n/a
19	RFX5	chr11:9994450-9994802	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:9994380-9994530	A549	lung:	n/a	n/a
21	SMC3	chr11:9994401-9994915	GM12878	blood:	n/a	n/a
22	RAD21	chr11:9994443-9994806	A549	lung:	n/a	n/a
23	ZNF143	chr11:9994441-9994800	GM12878	blood:	n/a	n/a
24	RAD21	chr11:9994290-9994921	A549	lung:	n/a	n/a
25	RAD21	chr11:9994427-9994850	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr11:9994432-9994757	GM12878	blood:	n/a	n/a
27	CTCF	chr11:9994464-9994891	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:9994466-9994900	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:9994243-9995000	HCT-116	colon:	n/a	n/a
30	RAD21	chr11:9994420-9994805	GM12878	blood:	n/a	n/a
31	RAD21	chr11:9994408-9994868	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:9994405-9994697	A549	lung:	n/a	n/a
33	TCF12	chr11:9994396-9995432	A549	lung:	n/a	n/a
34	RAD21	chr11:9994308-9994997	HCT-116	colon:	n/a	n/a
35	RAD21	chr11:9994258-9994854	HepG2	liver:	n/a	n/a
36	RAD21	chr11:9994467-9994705	K562	blood:	n/a	n/a
37	CTCF	chr11:9994413-9994824	IMR90	lung:	n/a	n/a
38	CTCF	chr11:9994460-9994610	WI-38	lung:	n/a	n/a
39	CTCF	chr11:9994382-9994830	HepG2	liver:	n/a	n/a
40	SMC3	chr11:9994048-9996188	SK-N-SH	brain:	n/a	n/a
41	RAD21	chr11:9994353-9994857	ECC-1	luminal epithelium:	n/a	n/a
42	RAD21	chr11:9994313-9994866	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:9994444-9994726	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr11:9994417-9994826	GM12878	blood:	n/a	n/a
45	CTCF	chr11:9994262-9995096	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr11:9994382-9994840	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:9994365-9994841	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:9994400-9994550	HAc	cerebellar:	n/a	n/a
49	RAD21	chr11:9994458-9994703	K562	blood:	n/a	n/a
50	CTCF	chr11:9994415-9994839	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9883445..9884416-chr11:9994096..9994928,3	MCF-7	breast:
2	chr11:9883380..9884276-chr11:9994232..9995105,4	MCF-7	breast:
3	chr11:9779414..9780281-chr11:9994114..9995162,4	K562	blood:

No data

Variant related genes	Relation type
SBF2	TF binding region
ENSG00000245522	Chromatin interaction
ENSG00000246273	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11608212	1.00[ASN][1000 genomes]
rs12098983	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274440	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271223	1.00[ASN][1000 genomes]
rs17271623	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272133	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	1.00[ASN][1000 genomes]
rs17355751	1.00[ASN][1000 genomes]
rs17356069	1.00[ASN][1000 genomes]
rs17356237	1.00[ASN][1000 genomes]
rs17356369	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	1.00[ASN][1000 genomes]
rs17358882	1.00[ASN][1000 genomes]
rs17359382	1.00[ASN][1000 genomes]
rs4910071	1.00[ASN][1000 genomes]
rs55811615	1.00[ASN][1000 genomes]
rs56067762	1.00[ASN][1000 genomes]
rs61876910	1.00[ASN][1000 genomes]
rs61876915	1.00[ASN][1000 genomes]
rs61876922	1.00[ASN][1000 genomes]
rs61876923	1.00[ASN][1000 genomes]
rs61876926	1.00[ASN][1000 genomes]
rs61876927	1.00[ASN][1000 genomes]
rs61876942	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876945	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876948	0.83[EUR][1000 genomes]
rs61876949	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876951	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876972	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876973	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876974	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876975	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876976	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876977	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876978	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876980	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876982	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876983	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876984	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877005	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877038	0.85[EUR][1000 genomes]
rs61877039	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877042	1.00[ASN][1000 genomes]
rs61877044	1.00[ASN][1000 genomes]
rs61877046	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877050	1.00[ASN][1000 genomes]
rs61877054	1.00[ASN][1000 genomes]
rs61877264	1.00[ASN][1000 genomes]
rs61878586	1.00[ASN][1000 genomes]
rs61878654	1.00[ASN][1000 genomes]
rs61878655	1.00[ASN][1000 genomes]
rs61878657	1.00[ASN][1000 genomes]
rs61878658	1.00[ASN][1000 genomes]
rs61878659	1.00[ASN][1000 genomes]
rs61880160	1.00[ASN][1000 genomes]
rs61889957	1.00[ASN][1000 genomes]
rs6483792	1.00[ASN][1000 genomes]
rs6483859	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553354	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	1.00[ASN][1000 genomes]
rs7105355	1.00[ASN][1000 genomes]
rs7108187	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109648	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110027	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117364	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118211	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118427	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7120403	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123546	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129274	1.00[ASN][1000 genomes]
rs7130478	1.00[ASN][1000 genomes]
rs7131546	1.00[ASN][1000 genomes]
rs72854502	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855652	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855680	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857108	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858820	1.00[ASN][1000 genomes]
rs72858863	1.00[ASN][1000 genomes]
rs72858902	1.00[ASN][1000 genomes]
rs7342224	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928664	1.00[ASN][1000 genomes]
rs7935235	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935610	1.00[ASN][1000 genomes]
rs7936602	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938570	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938773	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939096	1.00[ASN][1000 genomes]
rs7939269	1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7942807	1.00[ASN][1000 genomes]
rs7945309	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949110	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949493	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952455	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666488	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9952800-9995200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
3	chr11:9974200-9994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:9974200-9994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:9974200-9999000	Weak transcription	Fetal Heart	heart
6	chr11:9974200-9999000	Weak transcription	HSMMtube	muscle
7	chr11:9979400-9995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:9979600-9994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:9979800-9999200	Weak transcription	NH-A	brain
10	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:9981200-9995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:9981200-10004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:9981200-10009200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:9981400-9994600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:9981400-9994600	Weak transcription	NHLF	lung
16	chr11:9981400-9994800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:9981400-9995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9981400-9995200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:9981400-9995400	Weak transcription	Right Ventricle	heart
20	chr11:9981400-9999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:9981400-10002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:9981400-10003400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:9981400-10003400	Weak transcription	NHEK	skin
24	chr11:9981400-10003600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:9981400-10004200	Weak transcription	Esophagus	oesophagus
26	chr11:9981400-10004200	Weak transcription	Lung	lung
27	chr11:9981400-10004400	Weak transcription	HepG2	liver
28	chr11:9981400-10008800	Weak transcription	Primary T cells from cord blood	blood
29	chr11:9981400-10010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:9981400-10014800	Weak transcription	Dnd41	blood
31	chr11:9981400-10017000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
33	chr11:9981600-10003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:9981800-9995200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9981800-10003400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:9981800-10004800	Weak transcription	Ovary	ovary
37	chr11:9983200-9994600	Weak transcription	HSMM	muscle
38	chr11:9983600-10004800	Weak transcription	Fetal Lung	lung
39	chr11:9983600-10023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:9983800-9997200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:9984600-10010200	Weak transcription	Fetal Kidney	kidney
42	chr11:9984800-9999200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:9985000-9998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:9985600-9994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:9985800-9995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:9985800-9997600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:9985800-9998800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:9985800-10000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:9985800-10004000	Weak transcription	Placenta	Placenta
50	chr11:9985800-10004200	Weak transcription	Fetal Muscle Leg	muscle

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