Variant report

Variant	rs17819187
Chromosome Location	chr11:86529603-86529604
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	RCOR1	chr11:86529524-86529785	GM12878	blood:	n/a	n/a
2	IRF1	chr11:86529581-86529803	K562	blood:	n/a	n/a
3	CTCF	chr11:86529569-86529879	Spleen_OC	spleen:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
4	STAT3	chr11:86529406-86529917	Hela-S3	cervix:	n/a	chr11:86529734-86529745
5	RAD21	chr11:86529285-86530020	ECC-1	luminal epithelium:	n/a	chr11:86529698-86529717
6	CTCF	chr11:86529600-86529868	Gliobla	brain:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
7	NFIC	chr11:86529579-86530352	SK-N-SH	brain:	n/a	n/a
8	EP300	chr11:86529459-86529760	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:86529568-86529859	Medullo	brain:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
10	CHD1	chr11:86529500-86529792	GM12878	blood:	n/a	n/a
11	CTCF	chr11:86529593-86529884	K562	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
12	CTCF	chr11:86529586-86529856	MCF-7	breast:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
13	MAX	chr11:86529546-86529792	GM12878	blood:	n/a	n/a
14	CTCF	chr11:86529600-86529750	GM12872	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
15	CTCF	chr11:86529459-86529910	HepG2	liver:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
16	RAD21	chr11:86529491-86529890	GM12878	blood:	n/a	chr11:86529698-86529717
17	CTCF	chr11:86528936-86530409	SK-N-SH	brain:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
18	CTCF	chr11:86529577-86529837	HUVEC	blood vessel:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
19	MAZ	chr11:86529591-86529860	K562	blood:	n/a	n/a
20	POLR2A	chr11:86529448-86529900	PANC-1	pancreas:	n/a	n/a
21	BRCA1	chr11:86529478-86530148	Hela-S3	cervix:	n/a	n/a
22	MAFK	chr11:86529450-86529868	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr11:86528873-86530278	SK-N-SH	brain:	n/a	chr11:86529698-86529717
24	RAD21	chr11:86529277-86530093	A549	lung:	n/a	chr11:86529698-86529717
25	CTCF	chr11:86529600-86529750	A549	lung:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
26	TBL1XR1	chr11:86529542-86529890	GM12878	blood:	n/a	n/a
27	CTCF	chr11:86529600-86529750	HEEpiC	esophagus:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
28	PRDM1	chr11:86529359-86529975	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr11:86529478-86529863	Hela-S3	cervix:	n/a	chr11:86529561-86529574
30	TCF12	chr11:86529398-86530444	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr11:86529580-86529730	HFF-Myc	foreskin:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
32	RAD21	chr11:86529508-86529891	A549	lung:	n/a	chr11:86529698-86529717
33	CTCF	chr11:86529538-86529828	H1-hESC	embryonic stem cell:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
34	POLR2A	chr11:86529551-86530232	SK-N-SH	brain:	n/a	n/a
35	SMC3	chr11:86528895-86530117	Hela-S3	cervix:	n/a	chr11:86529702-86529716 chr11:86530030-86530037
36	CTCF	chr11:86529522-86529845	ECC-1	luminal epithelium:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
37	CTCF	chr11:86529600-86529750	GM12866	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
38	CTCF	chr11:86529500-86529650	HCT-116	colon:	n/a	n/a
39	CTCF	chr11:86529599-86529774	SK-N-SH_RA	brain:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
40	RAD21	chr11:86529559-86529802	K562	blood:	n/a	chr11:86529698-86529717
41	NFIC	chr11:86529311-86530036	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr11:86529577-86529854	K562	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
43	MYC	chr11:86529581-86529854	K562	blood:	n/a	n/a
44	CTCF	chr11:86529470-86529934	GM12878	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
45	STAT3	chr11:86529539-86529824	MCF10A-Er-Src	breast:	n/a	chr11:86529734-86529745
46	CTCF	chr11:86529568-86529872	Lung_OC	lung:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
47	CTCF	chr11:86529600-86529750	HRE	kidney:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
48	RAD21	chr11:86529447-86529958	H1-hESC	embryonic stem cell:	n/a	chr11:86529698-86529717
49	RAD21	chr11:86529237-86530116	HCT-116	colon:	n/a	chr11:86529698-86529717
50	SMC3	chr11:86529497-86529898	HepG2	liver:	n/a	chr11:86529702-86529716

No.	Distal block	Cell Line	Cell type
1	chr11:45823561..45828126-chr11:86528256..86531993,4	MCF-7	breast:
2	chr11:86166854..86168088-chr11:86529201..86530237,9	K562	blood:
3	chr11:86166713..86167839-chr11:86528876..86530191,9	MCF-7	breast:
4	chr11:86510061..86515412-chr11:86524967..86529841,8	MCF-7	breast:
5	chr11:86319149..86319859-chr11:86528932..86529935,3	K562	blood:
6	chr11:86487507..86489179-chr11:86528205..86530836,2	MCF-7	breast:
7	chr11:86166964..86167689-chr11:86529220..86530159,2	MCF-7	breast:
8	chr11:86525515..86527184-chr11:86529410..86531727,2	K562	blood:
9	chr11:86281178..86281704-chr11:86529595..86530161,2	MCF-7	breast:
10	chr11:86527774..86530543-chr11:86627685..86629323,2	MCF-7	breast:
11	chr11:86319134..86320072-chr11:86529181..86530084,3	MCF-7	breast:
12	chr11:86071532..86072478-chr11:86529286..86529817,2	MCF-7	breast:
13	chr11:86456277..86457862-chr11:86528085..86530264,2	MCF-7	breast:
14	chr11:86318542..86319850-chr11:86528941..86530646,11	MCF-7	breast:
15	chr11:86316921..86319182-chr11:86528850..86531026,2	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000181830	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11601553	0.86[CHB][hapmap]
rs11602695	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs12420039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421517	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12421942	0.81[ASN][1000 genomes]
rs12574979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802848	0.82[CHB][hapmap]
rs17211787	0.93[MEX][hapmap]
rs17211926	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs17212012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17819068	0.87[CEU][hapmap];0.87[CHB][hapmap]
rs17819134	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs17819181	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1939110	0.91[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939112	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1939113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939116	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1954769	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2005192	0.82[CHB][hapmap]
rs2155080	0.94[ASN][1000 genomes]
rs2155081	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2433431	0.80[MEX][hapmap]
rs2433432	0.80[MEX][hapmap]
rs2433433	0.80[MEX][hapmap]
rs2433434	0.80[MEX][hapmap]
rs2433439	0.86[MEX][hapmap]
rs2513003	0.80[MEX][hapmap]
rs28517777	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4128368	0.91[CHB][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap]
rs4269941	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap]
rs4291699	0.93[ASN][1000 genomes]
rs4304806	1.00[CEU][hapmap];1.00[CHB][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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4307743	0.82[CHB][hapmap]
rs4307748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4423210	0.92[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4485132	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4495915	1.00[CEU][hapmap]
rs4570601	0.82[CHB][hapmap]
rs4944630	0.82[CHB][hapmap]
rs55646317	0.86[AMR][1000 genomes]
rs58512185	0.90[AMR][1000 genomes]
rs58976693	0.86[AMR][1000 genomes]
rs60023003	0.81[AMR][1000 genomes]
rs61707378	0.88[AMR][1000 genomes]
rs6592315	0.82[CHB][hapmap]
rs7108490	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7118751	0.99[ASN][1000 genomes]
rs7126492	0.86[CHB][hapmap]
rs7131625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs744292	0.86[AMR][1000 genomes]
rs7931274	0.97[ASN][1000 genomes]
rs7948063	0.82[CHB][hapmap]
rs7951582	0.82[CHB][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86520000-86549200	Weak transcription	Ovary	ovary
4	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
6	chr11:86525200-86530400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:86525200-86531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86525800-86530200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:86525800-86530400	Enhancers	Hela-S3	cervix
10	chr11:86525800-86530800	Enhancers	Rectal Smooth Muscle	rectum
11	chr11:86526800-86530200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:86526800-86531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:86527400-86529800	Weak transcription	Aorta	Aorta
14	chr11:86527400-86530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:86527400-86530000	Weak transcription	Right Atrium	heart
16	chr11:86527400-86530200	Enhancers	HSMMtube	muscle
17	chr11:86527400-86530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86527400-86531000	Enhancers	Colon Smooth Muscle	Colon
19	chr11:86527600-86529800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:86527800-86529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:86527800-86530400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:86527800-86534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:86528000-86529800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:86528000-86530200	Enhancers	HUVEC	blood vessel
25	chr11:86528000-86530400	Enhancers	NH-A	brain
26	chr11:86528000-86542600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:86528600-86530200	Enhancers	HMEC	breast
28	chr11:86528600-86530400	Enhancers	Osteobl	bone
29	chr11:86528800-86529800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:86528800-86529800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:86528800-86530000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:86528800-86530200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:86528800-86530200	Enhancers	NHDF-Ad	bronchial
34	chr11:86528800-86530200	Enhancers	NHLF	lung
35	chr11:86528800-86545400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:86529000-86529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:86529000-86530000	Enhancers	Brain Hippocampus Middle	brain
38	chr11:86529000-86530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:86529000-86530200	Enhancers	NHEK	skin
40	chr11:86529000-86530800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86529000-86530800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:86529200-86530000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:86529400-86529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:86529400-86530000	Enhancers	Brain Angular Gyrus	brain
45	chr11:86529400-86530000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:86529400-86530200	Enhancers	Brain Anterior Caudate	brain
47	chr11:86529400-86530200	Enhancers	Fetal Heart	heart
48	chr11:86529400-86530400	Enhancers	Fetal Lung	lung
49	chr11:86529400-86530400	Enhancers	Fetal Stomach	stomach
50	chr11:86529600-86529800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links