Variant report

Variant	rs56904157
Chromosome Location	chr11:47808310-47808311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47788484..47791292-chr11:47808124..47811253,3	K562	blood:
2	chr11:47787985..47790114-chr11:47808170..47811133,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56962998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs57175250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58556689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582355	1.00[EUR][1000 genomes]
rs61144745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	1.00[AMR][1000 genomes]
rs73453068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461779	1.00[EUR][1000 genomes]
rs73461796	1.00[EUR][1000 genomes]
rs73461797	1.00[EUR][1000 genomes]
rs73463785	1.00[EUR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790000-47837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47790800-47832200	Weak transcription	Small Intestine	intestine
4	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
6	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47795600-47810600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:47796000-47812800	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:47796000-47816800	Strong transcription	GM12878-XiMat	blood
10	chr11:47796200-47810400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:47796200-47811200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:47796200-47813600	Strong transcription	Adipose Nuclei	Adipose
13	chr11:47796200-47834000	Strong transcription	Fetal Stomach	stomach
14	chr11:47796200-47837800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
18	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:47796400-47814400	Strong transcription	Fetal Intestine Large	intestine
28	chr11:47796400-47824800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:47796400-47858800	Strong transcription	Liver	Liver
34	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:47796600-47810200	Strong transcription	Lung	lung
36	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
37	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
38	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:47796800-47809600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:47796800-47810200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:47796800-47810400	Strong transcription	Osteobl	bone
42	chr11:47796800-47811200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:47796800-47813200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:47796800-47813800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:47796800-47837600	Strong transcription	Dnd41	blood
46	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:47796800-47852000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:47798400-47810600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr11:47798400-47810800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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