Variant report

Variant	rs1030846
Chromosome Location	chr1:216982853-216982854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1126022	0.80[AMR][1000 genomes]
rs12745662	0.84[CEU][hapmap]
rs1339337	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1339338	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1339348	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1339356	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344873	0.83[AMR][1000 genomes]
rs1436888	0.91[ASN][1000 genomes]
rs1538526	0.80[CEU][hapmap]
rs1832532	0.91[AMR][1000 genomes]
rs2032028	0.96[CEU][hapmap];0.81[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2118151	0.84[AMR][1000 genomes]
rs2576234	0.96[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2576235	0.92[CEU][hapmap];0.88[CHD][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2576236	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2576238	0.88[CEU][hapmap];0.91[CHD][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2789716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789720	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2813661	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2813671	0.90[AMR][1000 genomes]
rs2813674	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4575149	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs6604647	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512365	0.84[CEU][hapmap];0.83[CHB][hapmap];0.90[GIH][hapmap];0.88[LWK][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7554036	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][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	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216979000-216986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:216979400-216983000	Weak transcription	Psoas Muscle	Psoas
3	chr1:216979600-216983200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:216979800-216985000	Weak transcription	Fetal Heart	heart
5	chr1:216979800-216985200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:216979800-216988800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:216979800-216989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:216980000-216984800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:216980200-216986400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:216980200-216987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:216981200-216986000	Weak transcription	HSMMtube	muscle
13	chr1:216982000-216983000	Weak transcription	Gastric	stomach

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