Variant report

Variant	rs28366579
Chromosome Location	chr12:64441533-64441534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64439818..64441797-chr12:64472288..64474636,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10444577	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10878102	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175238	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1162788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228437	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344400	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378778	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1456046	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2168411	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2647908	0.87[ASN][1000 genomes]
rs4553444	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763134	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60987129	0.87[ASN][1000 genomes]
rs6581529	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581530	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963940	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980267	0.81[EUR][1000 genomes]
rs990309	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64418600-64456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:64428800-64450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
4	chr12:64433600-64449600	Weak transcription	Psoas Muscle	Psoas
5	chr12:64433600-64452400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
7	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
8	chr12:64433800-64449400	Weak transcription	HSMMtube	muscle
9	chr12:64433800-64452000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:64433800-64460000	Weak transcription	NH-A	brain
12	chr12:64434000-64443000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:64434000-64449400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:64434000-64449800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:64434000-64451800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:64434000-64456600	Weak transcription	HMEC	breast
17	chr12:64434000-64458200	Weak transcription	Fetal Intestine Large	intestine
18	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
19	chr12:64434400-64452600	Weak transcription	Fetal Brain Male	brain
20	chr12:64435800-64443200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:64436400-64442000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:64436800-64449400	Weak transcription	Ovary	ovary
24	chr12:64436800-64452800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:64436800-64458600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:64436800-64458600	Weak transcription	Fetal Stomach	stomach
27	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:64437000-64442800	Weak transcription	Adipose Nuclei	Adipose
29	chr12:64437200-64449400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:64437200-64449400	Weak transcription	Fetal Kidney	kidney
31	chr12:64437400-64444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:64437600-64442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:64437800-64449400	Weak transcription	Osteobl	bone
34	chr12:64438000-64442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:64438200-64458200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:64438200-64458400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:64438400-64443000	Weak transcription	Fetal Lung	lung
38	chr12:64438400-64443200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64438400-64449400	Weak transcription	Fetal Brain Female	brain
40	chr12:64438600-64443400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:64438800-64449400	Weak transcription	Brain Germinal Matrix	brain
42	chr12:64438800-64449400	Weak transcription	Fetal Heart	heart
43	chr12:64440000-64444000	Weak transcription	NHDF-Ad	bronchial
44	chr12:64440000-64449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:64440000-64458400	Weak transcription	Fetal Intestine Small	intestine
46	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
47	chr12:64440400-64443000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:64440400-64444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:64440400-64449400	Weak transcription	NHLF	lung
50	chr12:64440600-64442000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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