Variant report

Variant	rs10253341
Chromosome Location	chr7:104548266-104548267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104545801..104548319-chr7:104550408..104552472,2	K562	blood:

Variant related genes	Relation type
ENSG00000243352	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10216243	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10226456	0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10235696	0.86[ASN][1000 genomes]
rs10236552	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10237433	0.81[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10238498	0.93[ASN][1000 genomes]
rs10247246	0.90[CHB][hapmap]
rs10247369	0.90[JPT][hapmap]
rs10250365	0.90[CHB][hapmap]
rs10257360	0.93[ASN][1000 genomes]
rs10259925	0.90[CHB][hapmap]
rs10266362	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10273609	0.92[ASN][1000 genomes]
rs10274240	0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10280365	0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10281485	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10953454	0.90[CHB][hapmap]
rs10953455	0.87[CHB][hapmap]
rs10953457	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12534673	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12535201	0.90[CHB][hapmap]
rs12537945	0.81[ASN][1000 genomes]
rs12670275	0.93[ASN][1000 genomes]
rs12672211	0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12705281	0.90[CHB][hapmap]
rs13225632	0.81[ASN][1000 genomes]
rs1468813	0.95[CHB][hapmap]
rs17777379	0.90[CHB][hapmap]
rs17777439	0.90[CHB][hapmap]
rs2285533	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28478615	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28546781	0.86[ASN][1000 genomes]
rs28587189	0.93[ASN][1000 genomes]
rs34083033	0.86[ASN][1000 genomes]
rs34171467	0.97[ASN][1000 genomes]
rs35146170	0.90[CHB][hapmap]
rs35336178	0.86[EUR][1000 genomes]
rs35362363	0.85[EUR][1000 genomes]
rs35756879	0.91[ASN][1000 genomes]
rs35894637	0.86[ASN][1000 genomes]
rs35988800	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6949139	0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6963979	0.80[CHB][hapmap]
rs6968540	0.85[ASN][1000 genomes]
rs71562628	0.87[EUR][1000 genomes]
rs7779117	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7781864	0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10253341	ATXN7L1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
2	chr7:104542400-104552400	Weak transcription	Pancreas	Pancrea
3	chr7:104546400-104548400	Enhancers	Fetal Intestine Small	intestine
4	chr7:104547000-104549200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:104547600-104550200	Weak transcription	Fetal Intestine Large	intestine

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