Variant report

Variant	rs10490267
Chromosome Location	chr2:205335850-205335851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:205335744-205336044	K562	blood:	n/a	n/a
2	EP300	chr2:205335732-205336084	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:205334439..205337199-chr2:205337976..205341222,3	K562	blood:
2	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
3	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:

Variant related genes	Relation type
ENSG00000237843	TF binding region
ENSG00000237843	Chromatin interaction
ENSG00000236634	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10084416	0.83[ASN][1000 genomes]
rs1156249	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12616166	0.85[ASN][1000 genomes]
rs12990859	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001546	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13003798	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13005161	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13007075	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13021097	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024043	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1374708	0.82[ASN][1000 genomes]
rs1374709	0.80[EUR][1000 genomes]
rs1447488	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1447490	0.86[EUR][1000 genomes]
rs1447493	0.80[EUR][1000 genomes]
rs1550909	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17637637	0.81[EUR][1000 genomes]
rs17637778	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34368384	0.81[EUR][1000 genomes]
rs34816339	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35207649	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4675457	0.84[ASN][1000 genomes]
rs60341493	0.85[ASN][1000 genomes]
rs71427750	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71427751	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71427753	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921163	0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs959032	0.80[EUR][1000 genomes]
rs959033	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519470	chr2:205335630-205337400	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1012465	chr2:205335630-205349444	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10490267	ALS2CR8	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205332600-205336200	Enhancers	Fetal Lung	lung
2	chr2:205333600-205336000	Enhancers	Brain Anterior Caudate	brain
3	chr2:205334200-205337200	Weak transcription	NH-A	brain
4	chr2:205334400-205337000	Weak transcription	Hela-S3	cervix
5	chr2:205334600-205336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:205334600-205337200	Weak transcription	HSMMtube	muscle
7	chr2:205335000-205336400	Weak transcription	NHLF	lung
8	chr2:205335000-205337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:205335000-205341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:205335200-205337400	Enhancers	K562	blood
11	chr2:205335600-205336000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:205335800-205336000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:205335800-205341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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