Variant report

Variant	rs57579741
Chromosome Location	chr11:66052636-66052637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
2	chr11:66052249..66054204-chr11:66103456..66106375,2	K562	blood:
3	chr11:66049888..66052811-chr11:66137402..66139383,3	MCF-7	breast:
4	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
5	chr11:66050790..66053564-chr11:66079260..66081695,2	MCF-7	breast:
6	chr11:66049515..66053153-chr11:66136549..66141980,4	K562	blood:
7	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254458	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12420458	0.81[ASN][1000 genomes]
rs2282567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741370	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782081	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862387	0.83[ASN][1000 genomes]
rs61890290	0.81[ASN][1000 genomes]
rs61891385	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
2	chr11:66046000-66054000	Weak transcription	Aorta	Aorta
3	chr11:66046600-66052800	Weak transcription	Right Atrium	heart
4	chr11:66047400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66047800-66053000	Enhancers	Fetal Brain Male	brain
6	chr11:66048800-66054200	Weak transcription	NH-A	brain
7	chr11:66049000-66054400	Weak transcription	HSMM	muscle
8	chr11:66049800-66054800	Weak transcription	HSMMtube	muscle
9	chr11:66050000-66053600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:66050200-66054800	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr11:66050400-66053000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:66050400-66053600	Weak transcription	K562	blood
13	chr11:66050400-66054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:66050400-66054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:66050400-66055000	Weak transcription	Left Ventricle	heart
16	chr11:66050400-66055200	Weak transcription	Fetal Heart	heart
17	chr11:66050400-66055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:66050400-66055400	Weak transcription	Psoas Muscle	Psoas
19	chr11:66050600-66052800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:66050600-66053600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:66050600-66054200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66050600-66054400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:66050600-66054400	Strong transcription	Placenta	Placenta
24	chr11:66050600-66054800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:66050600-66055000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:66050600-66055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:66050600-66055200	Strong transcription	NHLF	lung
28	chr11:66050600-66055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:66050600-66055400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:66050600-66055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66050800-66052800	Weak transcription	Brain Substantia Nigra	brain
32	chr11:66050800-66053000	Weak transcription	Brain Angular Gyrus	brain
33	chr11:66050800-66053400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:66050800-66053800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:66050800-66054400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:66050800-66054400	Strong transcription	Fetal Intestine Large	intestine
37	chr11:66050800-66054600	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:66050800-66054600	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:66050800-66055000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:66050800-66055200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:66050800-66055200	Weak transcription	Primary B cells from cord blood	blood
42	chr11:66050800-66055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:66050800-66055200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:66050800-66055200	Weak transcription	Hela-S3	cervix
45	chr11:66050800-66055400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:66050800-66055400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:66051000-66052800	Strong transcription	Brain Hippocampus Middle	brain
48	chr11:66051000-66053000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:66051000-66053000	Weak transcription	A549	lung
50	chr11:66051000-66053400	Strong transcription	Placenta Amnion	Placenta Amnion

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