Variant report

Variant	rs11053638
Chromosome Location	chr12:10305841-10305842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10305467..10306793-chr12:10342493..10344173,14	MCF-7	breast:
2	chr12:10305112..10307480-chr12:10310212..10312398,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1050289	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11053639	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053640	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053642	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316150	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58564240	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10304800-10306000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:10305200-10306000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10305600-10306000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:10305600-10306000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:10305600-10306000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:10305600-10306000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:10305600-10306000	Enhancers	Primary B cells from cord blood	blood
8	chr12:10305600-10306000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr12:10305600-10306000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:10305600-10306000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:10305600-10306000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:10305600-10306000	Flanking Active TSS	Liver	Liver
13	chr12:10305600-10306000	Enhancers	Brain Anterior Caudate	brain
14	chr12:10305600-10306000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:10305600-10306000	Enhancers	Fetal Intestine Large	intestine
16	chr12:10305600-10306000	Enhancers	Fetal Intestine Small	intestine
17	chr12:10305600-10306000	Enhancers	Fetal Thymus	thymus
18	chr12:10305600-10306000	Enhancers	Spleen	Spleen
19	chr12:10305600-10306000	Bivalent Enhancer	Dnd41	blood
20	chr12:10305600-10306000	Enhancers	NHLF	lung
21	chr12:10305600-10306000	Enhancers	Osteobl	bone
22	chr12:10305600-10306600	Active TSS	Fetal Brain Male	brain
23	chr12:10305600-10307000	Active TSS	Brain Angular Gyrus	brain
24	chr12:10305600-10307000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr12:10305800-10306000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:10305800-10306000	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:10305800-10306000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:10305800-10306000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:10305800-10306000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:10305800-10306000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:10305800-10306000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:10305800-10306000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:10305800-10306000	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:10305800-10306000	Flanking Active TSS	Fetal Lung	lung
35	chr12:10305800-10306000	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:10305800-10306000	Enhancers	Placenta	Placenta
37	chr12:10305800-10306000	Flanking Active TSS	Fetal Stomach	stomach
38	chr12:10305800-10306000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:10305800-10306000	Enhancers	HMEC	breast
40	chr12:10305800-10306000	Enhancers	HUVEC	blood vessel
41	chr12:10305800-10306200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:10305800-10306200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:10305800-10306200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:10305800-10306200	Active TSS	GM12878-XiMat	blood
45	chr12:10305800-10306200	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:10305800-10306400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:10305800-10306400	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:10305800-10306400	Active TSS	Primary T cells from cord blood	blood
49	chr12:10305800-10306400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:10305800-10306400	Active TSS	Thymus	Thymus

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