Variant report

Variant	rs11252112
Chromosome Location	chr10:3854204-3854205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3847634..3849590-chr10:3852996..3855309,2	MCF-7	breast:
2	chr10:3850418..3854705-chr10:3877438..3880204,3	K562	blood:
3	chr10:3851780..3854214-chr10:3872954..3875359,2	MCF-7	breast:
4	chr10:3852665..3856843-chr10:3893810..3896491,3	K562	blood:
5	chr10:3411041..3412863-chr10:3852722..3854873,2	MCF-7	breast:
6	chr10:3851797..3855219-chr10:3870977..3874184,3	MCF-7	breast:
7	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
8	chr10:3795979..3797716-chr10:3852548..3854370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11252114	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11252118	0.95[ASN][1000 genomes]
rs12358872	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12358873	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv540450	chr10:3804336-3859639	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv540451	chr10:3804336-3868002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv540456	chr10:3820854-3868002	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	n/a
5	nsv1045571	chr10:3839308-3874184	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv540458	chr10:3839308-3874184	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3844800-3854600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr10:3844800-3854600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr10:3845000-3854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:3845000-3854600	Enhancers	Primary T cells from cord blood	blood
5	chr10:3845000-3854600	Enhancers	Fetal Thymus	thymus
6	chr10:3846800-3854600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:3847400-3854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:3847400-3854600	Enhancers	Fetal Intestine Large	intestine
9	chr10:3847600-3854600	Enhancers	Fetal Intestine Small	intestine
10	chr10:3848000-3854600	Enhancers	Primary hematopoietic stem cells	blood
11	chr10:3848200-3855200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:3848600-3854600	Enhancers	Stomach Mucosa	stomach
13	chr10:3849400-3854400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:3849600-3854600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:3850200-3854600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:3851200-3854600	Enhancers	Aorta	Aorta
17	chr10:3851400-3854400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr10:3851400-3856800	Enhancers	Fetal Heart	heart
19	chr10:3851600-3854600	Enhancers	Primary B cells from peripheral blood	blood
20	chr10:3851600-3854600	Enhancers	Placenta	Placenta
21	chr10:3851800-3854400	Flanking Active TSS	GM12878-XiMat	blood
22	chr10:3852200-3854400	Enhancers	Fetal Lung	lung
23	chr10:3852800-3854400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr10:3852800-3854400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:3852800-3854600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr10:3852800-3854600	Flanking Active TSS	Dnd41	blood
27	chr10:3853000-3854600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:3853000-3854600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr10:3853200-3854400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:3853200-3854400	Enhancers	Fetal Muscle Leg	muscle
31	chr10:3853200-3854600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:3853200-3854600	Enhancers	NHEK	skin
33	chr10:3853200-3854800	Enhancers	HMEC	breast
34	chr10:3853400-3854400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:3853400-3854400	Flanking Active TSS	Liver	Liver
36	chr10:3853400-3854400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:3853400-3854400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr10:3853400-3854400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr10:3853400-3854400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:3853400-3854400	Enhancers	Small Intestine	intestine
41	chr10:3853400-3854600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:3853400-3854600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:3853400-3854600	Enhancers	Left Ventricle	heart
44	chr10:3853400-3854600	Enhancers	Pancreas	Pancrea
45	chr10:3853600-3854400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:3853600-3854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:3853600-3854600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:3853600-3854600	Enhancers	Esophagus	oesophagus
49	chr10:3853600-3854600	Enhancers	Fetal Muscle Trunk	muscle
50	chr10:3853600-3854600	Enhancers	Lung	lung

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