Variant report

Variant	rs10842310
Chromosome Location	chr12:8960017-8960018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771072	0.91[EUR][1000 genomes]
rs10771078	0.82[EUR][1000 genomes]
rs10771079	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10842301	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11047362	0.84[EUR][1000 genomes]
rs2098246	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2377590	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4397904	0.83[EUR][1000 genomes]
rs4519138	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34096	chr12:8927520-8968810	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3411524	chr12:8957209-8964599	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
3	esv3379065	chr12:8957268-8965075	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8947600-8961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:8949000-8962600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:8957000-8963000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:8957600-8961200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:8957800-8962400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:8958200-8960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:8958600-8962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8958800-8961400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:8959200-8961800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:8959400-8962000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:8959800-8960200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr12:8959800-8960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:8960000-8961400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:8960000-8972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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