Variant report

Variant	rs4747592
Chromosome Location	chr10:27498757-27498758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10764662	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10764672	1.00[JPT][hapmap]
rs10829164	1.00[JPT][hapmap]
rs10829195	1.00[JPT][hapmap]
rs10829217	1.00[ASN][1000 genomes]
rs1085782	1.00[JPT][hapmap]
rs11015463	1.00[JPT][hapmap]
rs11015619	0.81[AMR][1000 genomes]
rs11015620	0.81[AMR][1000 genomes]
rs11015624	1.00[ASN][1000 genomes]
rs11015628	0.94[ASN][1000 genomes]
rs11812283	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11812740	1.00[ASN][1000 genomes]
rs11818418	0.88[ASN][1000 genomes]
rs12260818	0.88[ASN][1000 genomes]
rs12262209	0.88[ASN][1000 genomes]
rs12264871	0.93[ASN][1000 genomes]
rs12411584	1.00[JPT][hapmap]
rs12411593	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12411672	0.81[AMR][1000 genomes]
rs12413716	1.00[JPT][hapmap]
rs12415447	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12415615	1.00[JPT][hapmap]
rs12571272	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12774718	1.00[ASN][1000 genomes]
rs12775195	0.83[ASN][1000 genomes]
rs12775838	0.88[ASN][1000 genomes]
rs16916444	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927573	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs1753415	1.00[JPT][hapmap]
rs17748862	0.88[ASN][1000 genomes]
rs1775350	1.00[JPT][hapmap]
rs1930960	0.88[ASN][1000 genomes]
rs2027538	1.00[ASN][1000 genomes]
rs34983424	0.88[ASN][1000 genomes]
rs35053986	0.83[ASN][1000 genomes]
rs35931272	0.88[ASN][1000 genomes]
rs4747584	1.00[JPT][hapmap]
rs4747590	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4747594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749217	1.00[JPT][hapmap]
rs4749230	1.00[JPT][hapmap]
rs4749233	1.00[JPT][hapmap]
rs55770293	0.88[ASN][1000 genomes]
rs56207199	0.88[ASN][1000 genomes]
rs56313380	0.88[ASN][1000 genomes]
rs56352097	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs56406502	0.88[ASN][1000 genomes]
rs61149145	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	1.00[JPT][hapmap]
rs6482593	1.00[JPT][hapmap]
rs6482595	1.00[JPT][hapmap]
rs6482598	1.00[JPT][hapmap]
rs67395401	0.88[ASN][1000 genomes]
rs7087033	1.00[JPT][hapmap]
rs73598046	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73598048	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73598052	0.94[ASN][1000 genomes]
rs788210	1.00[JPT][hapmap]
rs788220	1.00[JPT][hapmap]
rs788237	1.00[JPT][hapmap]
rs7900533	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7902540	1.00[JPT][hapmap]
rs7907988	1.00[JPT][hapmap]
rs7910168	1.00[JPT][hapmap]
rs7918232	1.00[JPT][hapmap]
rs7918793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7919198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919807	1.00[ASN][1000 genomes]
rs7920681	1.00[ASN][1000 genomes]
rs9833	1.00[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4747592	ANKRD26	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
3	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
4	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
9	chr10:27481800-27499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:27483800-27512200	Strong transcription	Liver	Liver
12	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:27484800-27510800	Strong transcription	Left Ventricle	heart
19	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
22	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr10:27485800-27505800	Strong transcription	Fetal Muscle Leg	muscle
28	chr10:27486600-27499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:27486600-27508800	Strong transcription	Fetal Intestine Small	intestine
30	chr10:27486600-27508800	Strong transcription	Fetal Stomach	stomach
31	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:27488000-27508800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:27488800-27507800	Weak transcription	Fetal Heart	heart
37	chr10:27489400-27504600	Strong transcription	Dnd41	blood
38	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
40	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:27490200-27506000	Strong transcription	Primary T cells from cord blood	blood
46	chr10:27490200-27512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr10:27490400-27504600	Strong transcription	Fetal Thymus	thymus
48	chr10:27490400-27508800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:27490600-27501400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:27490600-27509000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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