Variant report

Variant	rs1503770
Chromosome Location	chr12:118864432-118864433
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	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1013641	0.89[EUR][1000 genomes]
rs17625679	0.88[EUR][1000 genomes]
rs1971322	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062522	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365267	0.89[EUR][1000 genomes]
rs4304821	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4366521	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55957752	0.93[EUR][1000 genomes]
rs58833755	0.89[EUR][1000 genomes]
rs60840022	0.88[EUR][1000 genomes]
rs7136004	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7307953	0.95[ASN][1000 genomes]
rs7316527	0.88[EUR][1000 genomes]
rs7795	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952833	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966814	0.89[EUR][1000 genomes]
rs7970613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7974630	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980279	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs955134	0.90[EUR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
2	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:118854400-118867600	Weak transcription	Gastric	stomach
7	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
9	chr12:118854600-118867600	Weak transcription	Ovary	ovary
10	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:118854800-118865400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:118854800-118865400	Weak transcription	Primary B cells from cord blood	blood
14	chr12:118854800-118865600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
16	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:118855000-118865000	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:118855000-118867000	Weak transcription	Liver	Liver
20	chr12:118855000-118867600	Weak transcription	Lung	lung
21	chr12:118855000-118867600	Weak transcription	Small Intestine	intestine
22	chr12:118855200-118865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:118855200-118866000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:118855200-118866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:118855200-118868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:118855200-118870000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:118856200-118865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:118856400-118865800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:118856600-118867600	Weak transcription	Pancreas	Pancrea
31	chr12:118856600-118868200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:118856800-118866600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:118856800-118868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:118857400-118869000	Weak transcription	Primary T cells from cord blood	blood
36	chr12:118857400-118870600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:118864400-118867400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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