Variant report

Variant	rs6488440
Chromosome Location	chr12:11775287-11775288
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10772491	0.88[EUR][1000 genomes]
rs10772492	0.87[EUR][1000 genomes]
rs10845389	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10845390	0.92[EUR][1000 genomes]
rs10845391	0.92[EUR][1000 genomes]
rs10845394	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845396	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10845397	0.93[CEU][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11054377	0.91[EUR][1000 genomes]
rs11054378	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11054379	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11054384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054385	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054389	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054390	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11833870	0.91[EUR][1000 genomes]
rs11835584	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12366449	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763712	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs58419583	0.92[EUR][1000 genomes]
rs58572989	0.92[EUR][1000 genomes]
rs60345208	0.92[EUR][1000 genomes]
rs6488434	0.92[EUR][1000 genomes]
rs6488436	0.80[EUR][1000 genomes]
rs6488437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133901	0.91[EUR][1000 genomes]
rs7311752	0.93[CEU][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7313110	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7962768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668837	0.92[EUR][1000 genomes]
rs9669330	0.91[EUR][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	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11760800-11775600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:11769000-11775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:11769000-11775400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:11770200-11776000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:11771400-11775400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:11772400-11775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:11773600-11775400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:11774000-11775400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:11774000-11775400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:11774400-11777000	Enhancers	Fetal Thymus	thymus
11	chr12:11774800-11775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:11774800-11776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:11774800-11776800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:11774800-11777000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:11774800-11777000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:11774800-11777200	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:11775000-11776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:11775000-11776800	Enhancers	Thymus	Thymus
19	chr12:11775000-11777200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:11775200-11776800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:11775200-11777200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:11775200-11777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:11775200-11777200	Enhancers	Primary monocytes fromperipheralblood	blood

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