Variant report

Variant	rs12411593
Chromosome Location	chr10:27495426-27495427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27495142..27497027-chr10:27500759..27502307,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11015619	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11015620	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12411672	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12415447	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12570662	0.84[ASN][1000 genomes]
rs12571272	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12572325	0.82[ASN][1000 genomes]
rs16916444	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16927573	0.80[AMR][1000 genomes]
rs3818969	0.91[ASN][1000 genomes]
rs4747590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4747592	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4747594	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56352097	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61149145	0.88[AMR][1000 genomes]
rs73598046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598048	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900533	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7918793	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7919198	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No data

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	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
4	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
5	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:27477000-27496400	Weak transcription	HSMM	muscle
10	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
11	chr10:27481800-27498000	Weak transcription	NHLF	lung
12	chr10:27481800-27499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr10:27483800-27512200	Strong transcription	Liver	Liver
15	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:27484800-27510800	Strong transcription	Left Ventricle	heart
22	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
25	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr10:27485800-27505800	Strong transcription	Fetal Muscle Leg	muscle
31	chr10:27486600-27499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:27486600-27508800	Strong transcription	Fetal Intestine Small	intestine
33	chr10:27486600-27508800	Strong transcription	Fetal Stomach	stomach
34	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:27487800-27498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:27488000-27508800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr10:27488400-27497400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:27488800-27507800	Weak transcription	Fetal Heart	heart
42	chr10:27489400-27504600	Strong transcription	Dnd41	blood
43	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
45	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:27490200-27506000	Strong transcription	Primary T cells from cord blood	blood

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