Variant report

Variant	rs7519127
Chromosome Location	chr1:84453055-84453056
allele	C/T
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	POLR2A	chr1:84453004-84453149	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84451281..84453143-chr1:84459499..84461189,2	K562	blood:

Variant related genes	Relation type
TTLL7-IT1	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10489508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119854	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125649	1.00[ASN][1000 genomes]
rs12126397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	1.00[ASN][1000 genomes]
rs12128942	1.00[ASN][1000 genomes]
rs12129276	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135562	1.00[ASN][1000 genomes]
rs12135679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	1.00[ASN][1000 genomes]
rs12140562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142220	1.00[ASN][1000 genomes]
rs12142873	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12142944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs12143951	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12144066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45515591	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700983	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84425200-84453200	Weak transcription	NHLF	lung
2	chr1:84446200-84461800	Weak transcription	Aorta	Aorta
3	chr1:84451200-84461000	Weak transcription	Gastric	stomach
4	chr1:84451200-84464000	Weak transcription	Pancreas	Pancrea
5	chr1:84451400-84462200	Weak transcription	Stomach Mucosa	stomach
6	chr1:84452600-84459000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:84452600-84460000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:84452600-84462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84452600-84462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:84452600-84464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:84452800-84455400	Weak transcription	Brain Hippocampus Middle	brain

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