Variant report

Variant	rs12579871
Chromosome Location	chr12:122634545-122634546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122632041..122634965-chr12:122670942..122673294,2	K562	blood:
2	chr12:122467382..122468928-chr12:122633431..122635226,2	K562	blood:
3	chr12:122628543..122630862-chr12:122633835..122635395,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11834748	1.00[ASN][1000 genomes]
rs11837919	1.00[ASN][1000 genomes]
rs12099705	1.00[ASN][1000 genomes]
rs12581610	1.00[ASN][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs56719421	1.00[ASN][1000 genomes]
rs56785986	1.00[ASN][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs57141433	1.00[ASN][1000 genomes]
rs57302703	1.00[ASN][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs58270183	1.00[ASN][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs59731700	1.00[ASN][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61126567	1.00[ASN][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7315448	1.00[ASN][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	1.00[EUR][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	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

No data

Chromatin state (count:31 , 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	chr12:122627400-122636400	Weak transcription	K562	blood
3	chr12:122627800-122636000	Weak transcription	Psoas Muscle	Psoas
4	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122628400-122636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
7	chr12:122628800-122636200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122628800-122636200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:122628800-122636200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:122628800-122636400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:122628800-122636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:122628800-122636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122628800-122636600	Weak transcription	A549	lung
14	chr12:122628800-122637400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122628800-122637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:122629000-122636600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
18	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:122630200-122636200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:122630200-122636400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:122630600-122635000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
24	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:122631000-122635000	Weak transcription	Spleen	Spleen
26	chr12:122632400-122636400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:122632600-122636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:122633400-122636400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122634000-122635000	Weak transcription	Ovary	ovary
30	chr12:122634000-122636400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach

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