Variant report

Variant	rs6489564
Chromosome Location	chr12:4846763-4846764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4842844..4845167-chr12:4846688..4848525,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10459130	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10744660	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774265	0.84[ASN][1000 genomes]
rs10849122	0.85[ASN][1000 genomes]
rs10849124	0.87[ASN][1000 genomes]
rs10849134	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11063310	0.84[ASN][1000 genomes]
rs11063312	0.87[ASN][1000 genomes]
rs11063319	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11063323	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11063337	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12312983	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12422704	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1860347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079776	0.84[ASN][1000 genomes]
rs3782743	0.86[CHB][hapmap];0.96[JPT][hapmap];0.82[ASN][1000 genomes]
rs4766284	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489562	0.84[ASN][1000 genomes]
rs7132150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311212	0.84[ASN][1000 genomes]
rs7962439	0.84[ASN][1000 genomes]
rs7979891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997411	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4827400-4849600	Weak transcription	Fetal Brain Female	brain
2	chr12:4832200-4849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:4832400-4849400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:4832600-4851600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4834000-4870200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:4837200-4853800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:4842600-4852200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:4844000-4848600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:4845000-4853800	Weak transcription	Fetal Brain Male	brain
11	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:4845400-4847200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:4845800-4846800	Weak transcription	Aorta	Aorta
14	chr12:4846200-4846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:4846400-4846800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:4846600-4847000	Enhancers	Colonic Mucosa	Colon

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