Variant report

Variant	rs1603327
Chromosome Location	chr12:117237932-117237933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117236086..117238833-chr12:117240782..117242383,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10774888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850718	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850719	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850721	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850724	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12301988	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815898	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4767457	0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7313014	0.93[EUR][1000 genomes]
rs7314211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314377	0.81[CEU][hapmap]
rs924079	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:117233000-117238000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:117234600-117246800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117234800-117238000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:117235200-117238200	ZNF genes & repeats	Fetal Thymus	thymus
12	chr12:117235400-117238000	ZNF genes & repeats	Dnd41	blood
13	chr12:117235400-117238200	ZNF genes & repeats	Thymus	Thymus
14	chr12:117235600-117238000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:117236600-117238000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr12:117236800-117238000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117237200-117246600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:117237400-117238600	Weak transcription	A549	lung
22	chr12:117237400-117246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:117237600-117238000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:117237600-117244200	Weak transcription	Fetal Brain Female	brain
25	chr12:117237800-117246400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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