Variant report

Variant	rs11054902
Chromosome Location	chr12:12580145-12580146
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	chr12:12578734..12582406-chr12:12583548..12588483,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459099	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743984	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743986	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772558	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10772561	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10772562	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10772564	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772565	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845531	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845534	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10845535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10845536	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845538	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054874	0.89[ASN][1000 genomes]
rs11054879	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054885	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054895	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054898	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054900	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054904	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11531025	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11537452	0.88[ASN][1000 genomes]
rs11559836	0.82[AMR][1000 genomes]
rs12301872	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2111270	0.81[ASN][1000 genomes]
rs2417186	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
2	chr12:12565200-12585000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12572600-12588400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12577400-12582200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:12577400-12582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:12577600-12580600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:12577600-12583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:12577800-12581800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:12577800-12584000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:12578200-12588600	Weak transcription	Primary B cells from cord blood	blood
11	chr12:12578400-12586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:12578400-12588200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:12578600-12580800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:12578800-12581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:12578800-12586200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:12578800-12589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12579000-12580600	Weak transcription	HMEC	breast
18	chr12:12579000-12581000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:12579000-12582000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:12579000-12582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:12579000-12583400	Weak transcription	NHLF	lung
22	chr12:12579000-12583800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:12579200-12581800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:12579200-12582000	Weak transcription	HSMMtube	muscle
25	chr12:12579200-12582000	Weak transcription	Osteobl	bone
26	chr12:12579200-12582600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:12579200-12582600	Weak transcription	HSMM	muscle
28	chr12:12579200-12585200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:12579400-12580400	Weak transcription	HepG2	liver
30	chr12:12579400-12582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:12579400-12582200	Weak transcription	Fetal Lung	lung
32	chr12:12579400-12585000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:12579400-12587000	Weak transcription	Psoas Muscle	Psoas
34	chr12:12579600-12583800	Weak transcription	Fetal Stomach	stomach
35	chr12:12579600-12585200	Weak transcription	Stomach Mucosa	stomach
36	chr12:12579600-12586600	Weak transcription	Fetal Intestine Large	intestine
37	chr12:12580000-12580600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:12580000-12580600	Weak transcription	Aorta	Aorta
39	chr12:12580000-12582200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:12580000-12588600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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