Variant report

Variant	rs2374545
Chromosome Location	chr12:106140551-106140552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106126086..106128636-chr12:106139690..106141510,2	MCF-7	breast:
2	chr12:106128999..106131037-chr12:106139408..106142036,2	MCF-7	breast:
3	chr12:106139826..106141711-chr12:106144259..106146850,2	MCF-7	breast:
4	chr12:106133184..106135047-chr12:106140177..106142971,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10861495	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11834526	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741635	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60920224	0.80[AFR][1000 genomes]
rs61940062	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136273	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137045	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307913	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106135400-106142400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:106136000-106142200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:106136000-106142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:106136600-106141400	Weak transcription	Right Atrium	heart
5	chr12:106136600-106142200	Weak transcription	Aorta	Aorta
6	chr12:106136600-106142200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:106136600-106142200	Weak transcription	Ovary	ovary
8	chr12:106136600-106142400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:106136800-106141600	Weak transcription	Right Ventricle	heart
10	chr12:106136800-106142400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:106137000-106141600	Weak transcription	Left Ventricle	heart
12	chr12:106137200-106142600	Weak transcription	Fetal Brain Female	brain
13	chr12:106137800-106141400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:106138400-106142800	Weak transcription	Fetal Brain Male	brain
15	chr12:106139000-106140600	Enhancers	HSMMtube	muscle
16	chr12:106139000-106144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:106139400-106142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:106139400-106142200	Weak transcription	HSMM	muscle
19	chr12:106139400-106142400	Weak transcription	HMEC	breast
20	chr12:106139400-106147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:106140000-106141600	Weak transcription	NH-A	brain
22	chr12:106140400-106140600	Enhancers	Esophagus	oesophagus

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