Variant report

Variant	rs12281565
Chromosome Location	chr11:36471571-36471572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:36471540-36471690	HCPEpiC	choroid plexus:	n/a	n/a
2	IRF1	chr11:36471534-36472078	K562	blood:	n/a	chr11:36471798-36471812 chr11:36471802-36471813 chr11:36471799-36471813 chr11:36471796-36471817 chr11:36471801-36471818 chr11:36471802-36471812 chr11:36471800-36471813 chr11:36471803-36471814 chr11:36471800-36471813 chr11:36471800-36471813
3	SPI1	chr11:36471369-36471571	GM12878	blood:	n/a	chr11:36471447-36471460
4	SPI1	chr11:36471261-36471595	GM12891	blood:	n/a	chr11:36471447-36471460
5	SPI1	chr11:36471256-36471580	GM12878	blood:	n/a	chr11:36471447-36471460
6	SPI1	chr11:36471286-36471625	GM12891	blood:	n/a	chr11:36471447-36471460

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36469765..36471660-chr11:36474085..36476889,2	K562	blood:
2	chr11:36469765..36471992-chr11:36474085..36476889,3	K562	blood:

Variant related genes	Relation type
PRR5L	TF binding region
ENSG00000135362	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046864	1.00[MEX][hapmap]
rs11033623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600757	0.84[CEU][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12294785	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2201845	0.84[CEU][hapmap]
rs2458927	0.84[CHD][hapmap];0.91[JPT][hapmap]
rs2458928	0.86[ASN][1000 genomes]
rs44883	0.87[GIH][hapmap];0.84[EUR][1000 genomes]
rs5030403	0.81[CEU][hapmap]
rs5030409	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs5030472	1.00[MEX][hapmap];0.87[TSI][hapmap]
rs5030482	1.00[MEX][hapmap]
rs540386	1.00[MEX][hapmap]
rs7111402	1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs7128641	0.81[ASN][1000 genomes]
rs890258	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.90[EUR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
4	chr11:36452800-36473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:36454800-36473600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:36455800-36473800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:36461600-36472600	Weak transcription	NH-A	brain
8	chr11:36463000-36474000	Weak transcription	Fetal Kidney	kidney
9	chr11:36463600-36471600	Weak transcription	Left Ventricle	heart
10	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:36464600-36471600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:36465800-36471600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:36467800-36471800	Enhancers	Pancreas	Pancrea
14	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:36468000-36471600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:36468200-36471600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr11:36468200-36473800	Weak transcription	Esophagus	oesophagus
18	chr11:36469000-36471600	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr11:36469000-36472400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:36469200-36471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:36469200-36474000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:36469200-36475600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:36469200-36475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:36469400-36471600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:36469400-36472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:36469400-36472600	Weak transcription	HSMM	muscle
28	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:36469800-36475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:36470000-36471600	Weak transcription	Placenta	Placenta
31	chr11:36470000-36473600	Strong transcription	NHEK	skin
32	chr11:36470000-36475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:36470200-36472400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:36470200-36472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
36	chr11:36470400-36471600	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:36470400-36472200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:36470400-36474800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:36470600-36471600	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:36470600-36471600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:36470600-36472400	Enhancers	Fetal Muscle Leg	muscle
43	chr11:36470600-36472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:36470600-36472600	Enhancers	Lung	lung
45	chr11:36470600-36473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:36470800-36471600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:36470800-36471600	Enhancers	Adipose Nuclei	Adipose
49	chr11:36470800-36471600	Enhancers	Brain Hippocampus Middle	brain
50	chr11:36470800-36474800	Weak transcription	HMEC	breast

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