Variant report

Variant	rs57852039
Chromosome Location	chr11:47329344-47329345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47329098..47330613-chr11:47332181..47334866,2	K562	blood:
2	chr11:47324175..47326625-chr11:47328924..47330574,2	K562	blood:
3	chr11:47329054..47330638-chr11:47332967..47334796,2	MCF-7	breast:
4	chr11:47315041..47318111-chr11:47327943..47330355,3	MCF-7	breast:
5	chr11:47293121..47295184-chr11:47327461..47329996,2	K562	blood:

Variant related genes	Relation type
ENSG00000256746	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1050244	0.93[EUR][1000 genomes]
rs10838677	0.90[EUR][1000 genomes]
rs11039143	0.93[EUR][1000 genomes]
rs11039145	0.93[EUR][1000 genomes]
rs11039146	0.93[EUR][1000 genomes]
rs11039160	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039161	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039177	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039179	0.93[ASN][1000 genomes]
rs11039185	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11530167	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2697919	0.83[EUR][1000 genomes]
rs3729936	0.93[ASN][1000 genomes]
rs3729948	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3729953	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45603841	0.93[EUR][1000 genomes]
rs4640	0.90[EUR][1000 genomes]
rs4647718	0.93[EUR][1000 genomes]
rs4647730	0.93[EUR][1000 genomes]
rs4647731	0.93[EUR][1000 genomes]
rs4647738	0.93[EUR][1000 genomes]
rs56023479	0.93[EUR][1000 genomes]
rs57741802	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58528246	0.93[EUR][1000 genomes]
rs58912703	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61124822	0.93[EUR][1000 genomes]
rs7943429	1.00[EUR][1000 genomes];0.86[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:47296200-47340400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:47300000-47341200	Strong transcription	Placenta	Placenta
11	chr11:47303200-47340600	Strong transcription	Hela-S3	cervix
12	chr11:47311800-47348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:47318000-47329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:47321400-47330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47322400-47341000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:47323000-47332000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:47323400-47341600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:47323400-47352400	Strong transcription	Thymus	Thymus
19	chr11:47324000-47334600	Strong transcription	Rectal Smooth Muscle	rectum
20	chr11:47324000-47334800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr11:47324000-47334800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:47324200-47354600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:47324600-47331600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:47324600-47341400	Strong transcription	Primary T cells from cord blood	blood
25	chr11:47324600-47346800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:47324800-47330000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47324800-47330400	Weak transcription	NH-A	brain
28	chr11:47324800-47331400	Strong transcription	Primary B cells from cord blood	blood
29	chr11:47324800-47331600	Strong transcription	Ovary	ovary
30	chr11:47324800-47337200	Strong transcription	Dnd41	blood
31	chr11:47324800-47341000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47324800-47352600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47325000-47329600	Weak transcription	Fetal Kidney	kidney
34	chr11:47325000-47338600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:47325000-47352400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:47325000-47352800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:47325200-47331600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:47325200-47334800	Strong transcription	Fetal Brain Female	brain
39	chr11:47325200-47335600	Strong transcription	Brain Germinal Matrix	brain
40	chr11:47325200-47337000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:47325200-47340400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:47325200-47341000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:47325200-47344000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:47325200-47347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:47325400-47329400	Strong transcription	Fetal Intestine Large	intestine
46	chr11:47325400-47331400	Strong transcription	GM12878-XiMat	blood
47	chr11:47325400-47341400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:47325400-47346600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:47325400-47349200	Strong transcription	Fetal Thymus	thymus
50	chr11:47325400-47353000	Strong transcription	Fetal Intestine Small	intestine

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