Variant report

Variant	rs7582822
Chromosome Location	chr2:172034918-172034919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172014804..172017655-chr2:172034018..172036409,2	MCF-7	breast:
2	chr2:172026236..172029009-chr2:172032109..172035323,3	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10171850	0.92[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10177560	0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs10183486	0.87[TSI][hapmap]
rs10183909	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199500	0.81[EUR][1000 genomes]
rs10204062	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1025240	0.90[TSI][hapmap]
rs1035825	0.90[TSI][hapmap]
rs1035827	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs1035828	0.90[TSI][hapmap]
rs11696064	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap]
rs11883894	0.80[ASN][1000 genomes]
rs12467411	0.81[CHB][hapmap]
rs12469418	0.80[ASN][1000 genomes]
rs12473741	0.95[CHB][hapmap]
rs12477548	0.80[ASN][1000 genomes]
rs12477555	0.80[ASN][1000 genomes]
rs12477649	0.92[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs12618898	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs13004273	0.90[TSI][hapmap]
rs13008199	0.90[TSI][hapmap]
rs13410683	0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs1344237	0.90[TSI][hapmap]
rs1529378	0.90[TSI][hapmap]
rs16859157	0.81[CHB][hapmap]
rs1863679	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs1978592	0.87[TSI][hapmap]
rs1989612	0.80[ASN][1000 genomes]
rs1989613	0.86[CHB][hapmap];0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs2033160	0.90[TSI][hapmap]
rs2356517	0.80[ASN][1000 genomes]
rs2356608	0.90[TSI][hapmap]
rs2676131	0.90[TSI][hapmap]
rs2676151	0.90[TSI][hapmap]
rs3731993	0.81[CHB][hapmap]
rs3755121	0.90[TSI][hapmap]
rs3770419	0.86[CHB][hapmap]
rs4331471	0.80[ASN][1000 genomes]
rs4564745	0.90[TSI][hapmap]
rs4667673	0.91[CHB][hapmap]
rs4668368	0.90[TSI][hapmap]
rs57335774	0.80[ASN][1000 genomes]
rs60091560	0.80[ASN][1000 genomes]
rs6433276	0.90[TSI][hapmap]
rs6433282	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714164	0.90[TSI][hapmap]
rs6716127	0.85[TSI][hapmap]
rs6730417	0.90[TSI][hapmap]
rs6754315	0.85[YRI][hapmap]
rs6761642	0.90[TSI][hapmap]
rs728455	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728456	0.80[ASN][1000 genomes]
rs728457	0.80[ASN][1000 genomes]
rs7421377	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7423767	0.80[ASN][1000 genomes]
rs754058	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs7560360	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580629	0.84[TSI][hapmap]
rs7594071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930035	0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs930036	0.85[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs964172	0.95[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][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	nsv522291	chr2:172034918-172043803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7582822	TLK1	cis	lesional skin	skin_eQTL
rs7582822	GORASP2	cis	cerebellum	SCAN
rs7582822	TLK1	cis	uninvolved skin	skin_eQTL
rs7582822	TLK1	Cis_1M	lymphoblastoid	RTeQTL
rs7582822	DLX1	cis	cerebellum	SCAN
rs7582822	TLK1	cis	normal skin	skin_eQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172030600-172035600	Weak transcription	GM12878-XiMat	blood
2	chr2:172031600-172036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:172031600-172036800	Weak transcription	NHEK	skin
4	chr2:172031600-172037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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