Variant report

Variant	rs12543657
Chromosome Location	chr8:35413442-35413443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10086532	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10099855	0.82[ASN][1000 genomes]
rs10102863	0.80[ASN][1000 genomes]
rs10106901	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10112860	0.81[ASN][1000 genomes]
rs10216851	0.81[ASN][1000 genomes]
rs12334629	0.81[ASN][1000 genomes]
rs12334687	0.87[ASN][1000 genomes]
rs12541423	0.84[ASN][1000 genomes]
rs12544168	0.91[ASN][1000 genomes]
rs12544701	0.81[ASN][1000 genomes]
rs12546560	0.84[ASN][1000 genomes]
rs12546786	0.82[ASN][1000 genomes]
rs12547584	0.84[ASN][1000 genomes]
rs12550037	0.82[ASN][1000 genomes]
rs13250198	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1371154	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1439159	0.84[ASN][1000 genomes]
rs16884099	0.91[ASN][1000 genomes]
rs16884109	0.84[ASN][1000 genomes]
rs1992251	0.84[ASN][1000 genomes]
rs1992252	0.84[ASN][1000 genomes]
rs2053340	0.91[ASN][1000 genomes]
rs28748085	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35827990	0.82[ASN][1000 genomes]
rs3899662	0.89[ASN][1000 genomes]
rs41360948	0.89[ASN][1000 genomes]
rs41409549	0.82[ASN][1000 genomes]
rs4302835	0.89[ASN][1000 genomes]
rs4739306	0.84[ASN][1000 genomes]
rs4739414	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4739415	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4739416	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56276341	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58417870	0.91[ASN][1000 genomes]
rs6468320	0.86[ASN][1000 genomes]
rs6980691	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6988474	0.82[ASN][1000 genomes]
rs6989128	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6990731	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6991528	0.81[ASN][1000 genomes]
rs6992105	0.89[ASN][1000 genomes]
rs6995309	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6997313	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7002810	0.91[ASN][1000 genomes]
rs7002972	0.91[ASN][1000 genomes]
rs7011885	0.89[ASN][1000 genomes]
rs7016526	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73674023	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7818666	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7821725	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7829642	0.91[ASN][1000 genomes]
rs7833005	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7833633	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7834535	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7841785	0.91[ASN][1000 genomes]
rs7845667	0.84[ASN][1000 genomes]
rs9772421	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9773948	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs983270	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs983271	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs983272	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs983273	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs997084	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024397	chr8:35296922-35424277	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1505769	chr8:35413433-35413443	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35400400-35414600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:35402600-35418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:35403000-35416400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:35403200-35414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35403200-35414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:35404000-35414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:35404200-35416400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:35405400-35416000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:35405400-35416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:35406000-35415600	Weak transcription	Fetal Brain Female	brain
11	chr8:35407800-35416600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:35408200-35418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:35408400-35416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:35410200-35418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:35412200-35415400	Weak transcription	Fetal Kidney	kidney
16	chr8:35413000-35416400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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