Variant report

Variant	rs11250575
Chromosome Location	chr10:209448-209449
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	chr10:201496..204470-chr10:209174..211164,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10508201	0.91[CEU][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10736951	0.92[JPT][hapmap]
rs10903692	0.88[EUR][1000 genomes]
rs10903844	0.85[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap]
rs11250289	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11250292	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11250419	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11250488	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250528	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250529	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[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250797	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11251173	0.87[EUR][1000 genomes]
rs11592007	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592027	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594308	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11599450	0.85[EUR][1000 genomes]
rs12357593	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12360337	0.89[EUR][1000 genomes]
rs1476130	0.88[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs17156179	1.00[YRI][hapmap]
rs17221197	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17221225	0.86[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs17221239	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17221260	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs2379049	0.82[EUR][1000 genomes]
rs2448364	0.88[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2448366	0.88[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2448371	0.85[EUR][1000 genomes]
rs2448373	0.84[EUR][1000 genomes]
rs2448380	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2448381	0.83[EUR][1000 genomes]
rs2448384	0.88[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2496275	0.88[CEU][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs2496278	0.80[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs4275539	0.84[EUR][1000 genomes]
rs56217646	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61836334	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61836335	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61836338	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7089302	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7090608	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7896421	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7912326	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs7919162	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs7919436	0.91[CEU][hapmap]
rs9419432	0.87[EUR][1000 genomes]
rs9419496	0.90[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:190400-215200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:190600-212800	Weak transcription	Left Ventricle	heart
3	chr10:194000-211400	Weak transcription	Fetal Lung	lung
4	chr10:194200-228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:194600-210400	Weak transcription	Primary T cells from cord blood	blood
6	chr10:194800-212600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:196800-215000	Weak transcription	Fetal Intestine Large	intestine
8	chr10:197000-209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:197400-210400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:197400-211200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:197800-219800	Weak transcription	HUVEC	blood vessel
12	chr10:199600-209800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:200000-228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:200400-226800	Weak transcription	HSMM	muscle
15	chr10:200400-230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:201000-214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:204000-212000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:206200-210200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:206600-209600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:206600-209800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:207200-226800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:207600-209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:207800-209800	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:208000-209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:208000-214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:208200-293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:208600-210200	Enhancers	Rectal Smooth Muscle	rectum
28	chr10:208800-209600	Weak transcription	Aorta	Aorta
29	chr10:208800-210000	Enhancers	Psoas Muscle	Psoas
30	chr10:209000-209600	Weak transcription	Small Intestine	intestine
31	chr10:209000-210200	Weak transcription	Ovary	ovary
32	chr10:209200-210400	Enhancers	Adipose Nuclei	Adipose

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