Variant report

Variant	rs987560
Chromosome Location	chr12:117248879-117248880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117246891..117249993-chr12:117250425..117253317,3	K562	blood:
2	chr12:117211246..117213116-chr12:117248453..117251134,2	MCF-7	breast:
3	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
4	chr12:117248703..117251842-chr12:117252978..117255376,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10047539	0.93[ASN][1000 genomes]
rs10735097	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774889	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774890	0.81[EUR][1000 genomes]
rs10850722	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299065	1.00[JPT][hapmap]
rs1495933	0.83[EUR][1000 genomes]
rs2393107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238048	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4238051	1.00[JPT][hapmap]
rs4326894	0.83[EUR][1000 genomes]
rs4432105	0.84[ASN][1000 genomes]
rs4767452	1.00[JPT][hapmap]
rs4767454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767458	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767460	0.93[ASN][1000 genomes]
rs4767462	0.84[ASN][1000 genomes]
rs4767463	0.81[ASN][1000 genomes]
rs4767466	0.84[ASN][1000 genomes]
rs4767470	1.00[JPT][hapmap]
rs4767473	1.00[JPT][hapmap]
rs4767490	1.00[JPT][hapmap]
rs6490093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490095	0.84[ASN][1000 genomes]
rs6490101	1.00[JPT][hapmap]
rs7302025	1.00[JPT][hapmap]
rs7304747	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307907	1.00[JPT][hapmap]
rs7960610	1.00[JPT][hapmap]
rs903773	0.84[ASN][1000 genomes]
rs924072	0.83[EUR][1000 genomes]
rs9804817	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:117238400-117255600	Enhancers	Fetal Thymus	thymus
14	chr12:117242000-117256200	Weak transcription	GM12878-XiMat	blood
15	chr12:117242200-117256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:117245400-117251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:117246800-117251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:117247000-117255800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:117247000-117256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:117247200-117256000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:117247800-117249000	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:117248000-117249000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:117248200-117256200	Weak transcription	Brain Germinal Matrix	brain
24	chr12:117248400-117251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117248400-117251200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:117248600-117251600	Weak transcription	Thymus	Thymus

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