Variant report

Variant	rs11265564
Chromosome Location	chr1:161164166-161164167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
2	chr1:161122537..161125148-chr1:161162988..161165474,2	K562	blood:
3	chr1:161162284..161164231-chr1:161350285..161353157,2	MCF-7	breast:
4	chr1:161163988..161166872-chr1:161195366..161197784,2	K562	blood:
5	chr1:161162532..161167192-chr1:161195273..161197784,4	K562	blood:
6	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263548	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10797094	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2501876	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3813622	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233367	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4564157	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4589131	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656993	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7512012	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
7	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
8	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
9	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
12	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
13	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
14	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
17	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:161160800-161166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:161161000-161165400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr1:161161000-161166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:161161400-161165200	Genic enhancers	Brain Anterior Caudate	brain
23	chr1:161161600-161166000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:161161800-161164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:161161800-161166000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161161800-161166200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:161161800-161166400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:161161800-161166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:161161800-161166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161161800-161166600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:161162000-161164800	Enhancers	Brain Angular Gyrus	brain
32	chr1:161162000-161165000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:161162000-161165000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:161162000-161165000	Genic enhancers	Fetal Muscle Leg	muscle
35	chr1:161162000-161165800	Enhancers	Primary T cells from cord blood	blood
36	chr1:161162000-161166800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:161162200-161165000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:161162200-161166400	Enhancers	Primary B cells from cord blood	blood
39	chr1:161162400-161164200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:161162400-161164600	Enhancers	GM12878-XiMat	blood
41	chr1:161162400-161165400	Enhancers	Fetal Thymus	thymus
42	chr1:161162400-161166600	Genic enhancers	Fetal Stomach	stomach
43	chr1:161162600-161164600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:161162600-161164800	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr1:161162600-161165400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:161162600-161165600	Genic enhancers	HSMMtube	muscle
47	chr1:161162600-161166000	Weak transcription	Osteobl	bone
48	chr1:161162800-161165000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:161162800-161166400	Weak transcription	Fetal Intestine Large	intestine
50	chr1:161162800-161166400	Weak transcription	Rectal Smooth Muscle	rectum

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