Variant report

Variant	rs7976422
Chromosome Location	chr12:122636556-122636557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122615491..122616193-chr12:122635825..122636934,4	MCF-7	breast:
2	chr12:122631254..122633106-chr12:122634821..122636708,2	MCF-7	breast:
3	chr12:122631493..122633468-chr12:122636504..122639040,2	K562	blood:
4	chr12:122492378..122493010-chr12:122636236..122636816,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10744239	1.00[ASN][1000 genomes]
rs10773144	0.81[ASN][1000 genomes]
rs10773171	1.00[ASN][1000 genomes]
rs10846939	1.00[ASN][1000 genomes]
rs10846976	1.00[ASN][1000 genomes]
rs10846977	1.00[ASN][1000 genomes]
rs11058015	0.92[ASN][1000 genomes]
rs11058058	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058231	0.86[ASN][1000 genomes]
rs11058236	0.86[ASN][1000 genomes]
rs11058323	1.00[ASN][1000 genomes]
rs12228690	0.95[ASN][1000 genomes]
rs12427048	0.95[ASN][1000 genomes]
rs12427075	0.86[ASN][1000 genomes]
rs2048498	0.89[EUR][1000 genomes]
rs2137200	0.95[ASN][1000 genomes]
rs2175531	0.93[ASN][1000 genomes]
rs35242277	0.92[ASN][1000 genomes]
rs35396001	0.93[ASN][1000 genomes]
rs35822906	0.97[ASN][1000 genomes]
rs4447210	0.97[ASN][1000 genomes]
rs4758681	0.95[ASN][1000 genomes]
rs4758682	1.00[ASN][1000 genomes]
rs61955561	0.91[ASN][1000 genomes]
rs6488994	0.94[ASN][1000 genomes]
rs6489029	0.84[ASN][1000 genomes]
rs7303129	1.00[ASN][1000 genomes]
rs7303214	0.97[ASN][1000 genomes]
rs7311842	1.00[ASN][1000 genomes]
rs7311871	0.99[ASN][1000 genomes]
rs7963903	0.85[ASN][1000 genomes]
rs7964127	1.00[ASN][1000 genomes]
rs7972527	0.95[ASN][1000 genomes]
rs7979259	0.85[ASN][1000 genomes]
rs925459	0.97[ASN][1000 genomes]
rs925460	0.94[EUR][1000 genomes];0.96[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv21424	chr12:122634975-122649886	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
4	chr12:122628800-122636600	Weak transcription	A549	lung
5	chr12:122628800-122637400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:122628800-122637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:122629000-122636600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
12	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:122636000-122636600	Enhancers	Psoas Muscle	Psoas
15	chr12:122636200-122636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:122636200-122636800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:122636200-122636800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:122636200-122637000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:122636400-122636600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122636400-122636600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:122636400-122636600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:122636400-122636600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:122636400-122636600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:122636400-122636600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:122636400-122636800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:122636400-122636800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:122636400-122636800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:122636400-122637000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:122636400-122637200	Enhancers	K562	blood
30	chr12:122636400-122637600	Enhancers	Brain Cingulate Gyrus	brain

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