Variant report

Variant	rs11161563
Chromosome Location	chr1:85711058-85711059
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	chr1:85709353..85713723-chr1:85723049..85726532,6	K562	blood:
2	chr1:85708208..85712302-chr1:85713167..85718221,7	K562	blood:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11161555	0.82[AMR][1000 genomes]
rs11161557	0.91[JPT][hapmap];0.90[TSI][hapmap]
rs11161560	0.91[JPT][hapmap]
rs11161566	0.89[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs11161569	0.93[ASN][1000 genomes]
rs11161572	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11370	0.93[ASN][1000 genomes]
rs12036224	0.86[CHD][hapmap]
rs12037869	0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs12124665	0.89[JPT][hapmap]
rs12133263	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12143319	0.89[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2185485	0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs2735595	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs3768234	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3768235	1.00[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55806921	0.83[EUR][1000 genomes]
rs6700749	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs9433250	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:85706600-85716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:85706600-85716000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85706600-85716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:85706800-85716000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:85707000-85715600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:85707000-85716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:85707000-85722800	Weak transcription	HepG2	liver
13	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
14	chr1:85707200-85715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:85707200-85716000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:85707200-85716200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:85707800-85724400	Weak transcription	Lung	lung
18	chr1:85708600-85712400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:85709000-85711400	Enhancers	Fetal Lung	lung
20	chr1:85709000-85711400	Enhancers	Hela-S3	cervix
21	chr1:85709000-85711600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:85709000-85711800	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:85709000-85712000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85709000-85712000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:85709000-85712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:85709000-85712000	Enhancers	Osteobl	bone
27	chr1:85709200-85711400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:85709200-85712200	Enhancers	Fetal Stomach	stomach
29	chr1:85709400-85712000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:85709600-85711400	Enhancers	Placenta	Placenta
31	chr1:85709600-85711600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:85709600-85712000	Enhancers	K562	blood
33	chr1:85709800-85712200	Enhancers	Dnd41	blood
34	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
35	chr1:85710000-85711600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:85710000-85711600	Enhancers	NHEK	skin
37	chr1:85710000-85711800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:85710000-85711800	Enhancers	HMEC	breast
39	chr1:85710200-85711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:85710200-85711800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:85710200-85712000	Enhancers	HSMM	muscle
42	chr1:85710400-85712000	Enhancers	Fetal Kidney	kidney
43	chr1:85710400-85714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:85710400-85714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:85710400-85721400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:85710400-85724000	Weak transcription	Ovary	ovary
47	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
48	chr1:85710600-85711400	Enhancers	Left Ventricle	heart
49	chr1:85710600-85716200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:85710600-85716200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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