Variant report

Variant	rs11250529
Chromosome Location	chr10:203800-203801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:201496..204470-chr10:209174..211164,3	MCF-7	breast:
2	chr10:200255..202486-chr10:203499..205667,2	K562	blood:

Variant related genes	Relation type
ENSG00000212331	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10508201	0.90[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10736951	0.81[JPT][hapmap]
rs10794721	0.84[EUR][1000 genomes]
rs10903692	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10903844	0.89[JPT][hapmap]
rs11250289	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250292	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250419	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250488	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11250528	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250575	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250797	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11251173	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11592007	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11592027	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11594308	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11599450	0.83[EUR][1000 genomes]
rs12357593	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12360337	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1476130	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs17221197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17221225	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17221239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17221260	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2379049	0.90[EUR][1000 genomes]
rs2448364	0.86[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs2448366	0.85[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2448371	0.83[EUR][1000 genomes]
rs2448373	0.82[EUR][1000 genomes]
rs2448380	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2448381	0.81[EUR][1000 genomes]
rs2448384	0.85[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2496275	0.85[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs4275539	0.86[EUR][1000 genomes]
rs4369322	0.86[EUR][1000 genomes]
rs56217646	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56335464	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61836334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61836335	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61836338	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7089302	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7090608	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7896421	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7909028	0.84[EUR][1000 genomes]
rs7912326	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7919162	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs7919436	0.90[CEU][hapmap]
rs9419432	0.85[EUR][1000 genomes]
rs9419493	0.85[EUR][1000 genomes]
rs9419496	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531919	chr10:60001-668649	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1040332	chr10:72797-244561	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1044775	chr10:72797-250662	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1047868	chr10:72797-259003	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1048232	chr10:72797-274675	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:183200-205400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr10:189000-204000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:189000-208800	Weak transcription	Small Intestine	intestine
4	chr10:190400-215200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr10:190600-212800	Weak transcription	Left Ventricle	heart
6	chr10:194000-211400	Weak transcription	Fetal Lung	lung
7	chr10:194200-228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:194600-210400	Weak transcription	Primary T cells from cord blood	blood
9	chr10:194800-206200	Weak transcription	Pancreas	Pancrea
10	chr10:194800-212600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:195400-207000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:196400-206200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:196800-215000	Weak transcription	Fetal Intestine Large	intestine
14	chr10:197000-209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:197400-209200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:197400-210400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:197400-211200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:197800-219800	Weak transcription	HUVEC	blood vessel
19	chr10:198600-206000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:199600-209800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:200000-207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:200000-228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:200400-206400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:200400-207200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:200400-207600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:200400-208800	Weak transcription	Psoas Muscle	Psoas
27	chr10:200400-209200	Weak transcription	Adipose Nuclei	Adipose
28	chr10:200400-226800	Weak transcription	HSMM	muscle
29	chr10:200400-230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:200600-204800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:200600-207200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:201000-214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:201200-207000	Weak transcription	Aorta	Aorta
34	chr10:202200-204400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:202200-207600	Weak transcription	Ovary	ovary
36	chr10:203800-204000	Enhancers	Brain Inferior Temporal Lobe	brain

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