Variant report

Variant	rs11604189
Chromosome Location	chr11:102219863-102219864
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	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
2	FOXA2	chr11:102219722-102220099	HepG2	liver:	n/a	chr11:102219978-102219990
3	POLR2A	chr11:102219602-102222092	K562	blood:	n/a	n/a
4	FOXA2	chr11:102219450-102220415	HepG2	liver:	n/a	chr11:102219978-102219990
5	FOXA1	chr11:102219695-102220046	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990
6	FOXA1	chr11:102219750-102219996	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990
7	POLR2A	chr11:102219679-102220172	PANC-1	pancreas:	n/a	n/a
8	FOXA1	chr11:102219554-102220164	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990
9	FOXA1	chr11:102219564-102220204	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990

No.	Distal block	Cell Line	Cell type
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
3	chr11:102187104..102190463-chr11:102217868..102220185,3	MCF-7	breast:

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000255337	Chromatin interaction
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10082693	1.00[YRI][hapmap]
rs10219215	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.96[AFR][1000 genomes]
rs1058606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895293	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10895296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs11225217	1.00[YRI][hapmap]
rs11225219	0.86[AFR][1000 genomes]
rs11225222	1.00[ASN][1000 genomes]
rs11225223	0.91[AFR][1000 genomes]
rs11225228	1.00[YRI][hapmap]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225242	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11225243	0.81[EUR][1000 genomes]
rs11225244	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11225246	1.00[YRI][hapmap]
rs11225247	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11225251	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547916	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605010	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605573	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11607657	1.00[ASN][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12270723	1.00[YRI][hapmap]
rs12270893	1.00[YRI][hapmap]
rs12271457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273698	1.00[ASN][1000 genomes]
rs12274405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12277594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	1.00[CEU][hapmap]
rs12277853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278619	1.00[YRI][hapmap]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281328	1.00[YRI][hapmap]
rs12282486	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282509	1.00[YRI][hapmap]
rs12283885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283923	1.00[YRI][hapmap]
rs12288938	1.00[YRI][hapmap]
rs12290033	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290870	1.00[YRI][hapmap]
rs12291114	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291210	1.00[YRI][hapmap]
rs12291456	1.00[YRI][hapmap]
rs12293094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]
rs12293834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294170	1.00[YRI][hapmap]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1317775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1318199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs13377312	1.00[YRI][hapmap]
rs1574410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349689	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17769668	0.81[EUR][1000 genomes]
rs1943781	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2436036	1.00[CHB][hapmap]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs531350	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs57346058	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562739	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58250524	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123589	1.00[ASN][1000 genomes]
rs61334418	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs660908	1.00[CHB][hapmap]
rs670334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7104841	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114048	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971623	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv975369	chr11:102219075-102221776	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:102216800-102220000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:102216800-102220000	Active TSS	Right Atrium	heart
6	chr11:102217000-102220000	Active TSS	Thymus	Thymus
7	chr11:102217000-102221600	Active TSS	GM12878-XiMat	blood
8	chr11:102218600-102220000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr11:102218600-102220200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:102218800-102220000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:102218800-102220000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
13	chr11:102219000-102220000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:102219000-102221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:102219000-102231600	Weak transcription	Gastric	stomach
16	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:102219200-102220000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:102219200-102220000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:102219200-102220000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:102219200-102220000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:102219200-102220000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:102219200-102220000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:102219200-102220000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:102219200-102220000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:102219200-102220000	Enhancers	Stomach Mucosa	stomach
26	chr11:102219200-102220000	Enhancers	Hela-S3	cervix
27	chr11:102219200-102220200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:102219200-102220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:102219200-102220600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:102219200-102220600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:102219200-102220600	Weak transcription	Placenta	Placenta
32	chr11:102219200-102220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:102219200-102220800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:102219200-102220800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:102219200-102220800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:102219200-102220800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:102219200-102220800	Weak transcription	Left Ventricle	heart
38	chr11:102219200-102220800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:102219200-102221000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:102219200-102221000	Enhancers	Brain Cingulate Gyrus	brain
41	chr11:102219200-102221200	Enhancers	Colon Smooth Muscle	Colon
42	chr11:102219200-102221200	Enhancers	Fetal Heart	heart
43	chr11:102219200-102222000	Weak transcription	Pancreas	Pancrea
44	chr11:102219200-102224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:102219200-102224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:102219200-102224200	Weak transcription	Lung	lung
47	chr11:102219200-102230200	Weak transcription	Right Ventricle	heart
48	chr11:102219200-102231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:102219200-102231600	Weak transcription	Esophagus	oesophagus
50	chr11:102219200-102231800	Weak transcription	H1 Cell Line	embryonic stem cell

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