Variant report

Variant	rs1074992
Chromosome Location	chr12:12434195-12434196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12419888..12423743-chr12:12431605..12434676,3	K562	blood:
2	chr12:12419688..12421380-chr12:12433411..12435070,2	MCF-7	breast:
3	chr12:12419888..12423743-chr12:12432104..12435678,3	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431232	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431303	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743981	0.94[EUR][1000 genomes]
rs1074993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772544	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10845498	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs10845504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845505	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11054701	0.94[CEU][hapmap];0.83[TSI][hapmap]
rs11054752	0.94[EUR][1000 genomes]
rs1468878	0.88[EUR][1000 genomes]
rs1548958	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16907786	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs16907810	0.87[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs2075241	0.92[CEU][hapmap]
rs2160589	0.87[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs2300231	0.94[CEU][hapmap]
rs2417090	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825258	0.94[CEU][hapmap]
rs4265667	0.92[EUR][1000 genomes]
rs4494380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763789	0.92[EUR][1000 genomes]
rs61130413	0.85[EUR][1000 genomes]
rs7134001	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7136380	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7295656	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296283	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310538	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311987	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313285	0.92[EUR][1000 genomes]
rs7968660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1074992	DERA	cis	parietal	SCAN
rs1074992	M6PR	cis	cerebellum	SCAN
rs1074992	LRP6	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12426600-12435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:12426600-12435400	Weak transcription	NHDF-Ad	bronchial
4	chr12:12431800-12434200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:12432000-12435200	Weak transcription	NHLF	lung
6	chr12:12432400-12435600	Weak transcription	Osteobl	bone
7	chr12:12432600-12435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:12433200-12434400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:12433200-12434400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:12433200-12436800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:12433400-12434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:12433600-12434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:12433800-12434400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:12433800-12435000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:12433800-12436600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:12433800-12437600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:12433800-12437600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:12434000-12434200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:12434000-12434200	ZNF genes & repeats	Aorta	Aorta
20	chr12:12434000-12437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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