Variant report

Variant	rs61940062
Chromosome Location	chr12:106137927-106137928
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	chr12:106133734..106136085-chr12:106136351..106138075,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10861495	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11834526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374545	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741635	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136273	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307913	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3447181	chr12:106132354-106138639	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106131800-106138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:106135400-106138200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:106135400-106138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:106135400-106139000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:106135400-106142400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:106135800-106138400	Enhancers	Fetal Brain Male	brain
7	chr12:106135800-106139000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:106136000-106139000	Weak transcription	HMEC	breast
9	chr12:106136000-106139400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:106136000-106142200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:106136000-106142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:106136400-106139000	Weak transcription	HSMM	muscle
13	chr12:106136400-106139000	Weak transcription	NH-A	brain
14	chr12:106136400-106139000	Weak transcription	Osteobl	bone
15	chr12:106136600-106139000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:106136600-106139000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:106136600-106141400	Weak transcription	Right Atrium	heart
18	chr12:106136600-106142200	Weak transcription	Aorta	Aorta
19	chr12:106136600-106142200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:106136600-106142200	Weak transcription	Ovary	ovary
21	chr12:106136600-106142400	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:106136800-106141600	Weak transcription	Right Ventricle	heart
23	chr12:106136800-106142400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:106137000-106139000	Weak transcription	HSMMtube	muscle
25	chr12:106137000-106141600	Weak transcription	Left Ventricle	heart
26	chr12:106137200-106139200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:106137200-106139400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:106137200-106142600	Weak transcription	Fetal Brain Female	brain
29	chr12:106137400-106138000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:106137400-106138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:106137400-106139400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:106137600-106138000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr12:106137600-106138000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:106137600-106139400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:106137800-106139000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:106137800-106141400	Weak transcription	Fetal Muscle Leg	muscle

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