Variant report

Variant	rs1435121
Chromosome Location	chr15:33856012-33856013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1025578	0.92[ASN][1000 genomes]
rs1025579	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs1025581	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs1030767	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1030768	0.95[ASN][1000 genomes]
rs1030769	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1030770	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1030771	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1077409	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[ASN][1000 genomes]
rs11072521	0.83[CHB][hapmap]
rs11072523	0.83[CHB][hapmap]
rs11072524	0.81[CHB][hapmap]
rs11072545	0.95[ASN][1000 genomes]
rs11630933	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633042	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11634054	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634809	0.92[ASN][1000 genomes]
rs11635764	0.93[ASN][1000 genomes]
rs11637818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639327	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs12439812	0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12899789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12903310	0.93[ASN][1000 genomes]
rs12909241	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs1369305	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[ASN][1000 genomes]
rs1369306	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs1369310	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1435097	0.87[CHB][hapmap]
rs1435098	0.87[CHB][hapmap]
rs1435099	0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[ASN][1000 genomes]
rs1435100	0.87[CHB][hapmap]
rs1435101	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs1435102	0.83[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[ASN][1000 genomes]
rs1435103	0.87[CHB][hapmap]
rs1435106	0.84[CHB][hapmap]
rs1435117	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1435118	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1435120	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435122	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1435123	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435124	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529845	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs1529847	0.92[ASN][1000 genomes]
rs1529848	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[ASN][1000 genomes]
rs1529849	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[ASN][1000 genomes]
rs1529850	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs1560965	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs1560966	0.87[CHB][hapmap]
rs1579583	0.91[ASN][1000 genomes]
rs1579584	0.84[AFR][1000 genomes]
rs1594955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865495	0.91[CHB][hapmap];0.98[CHD][hapmap];0.92[ASN][1000 genomes]
rs1865496	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs1865499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060453	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2164250	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304379	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339306	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339307	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2339308	0.91[ASN][1000 genomes]
rs2339309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2339310	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2572199	0.87[CHB][hapmap]
rs2572200	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs2572202	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2572203	0.87[CHB][hapmap]
rs2643365	0.86[JPT][hapmap]
rs28847986	0.81[AFR][1000 genomes]
rs3794582	0.93[ASN][1000 genomes]
rs3829476	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829478	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503763	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779620	0.92[ASN][1000 genomes]
rs4779621	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4780123	0.92[ASN][1000 genomes]
rs4780125	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs4780127	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619196	0.86[JPT][hapmap]
rs620150	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6495169	0.82[AFR][1000 genomes]
rs6495170	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs674155	0.86[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs680388	0.86[JPT][hapmap]
rs680851	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs682639	0.86[JPT][hapmap]
rs683484	0.81[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs683553	1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7162590	0.93[ASN][1000 genomes]
rs7164455	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165400	0.88[ASN][1000 genomes]
rs7167970	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7169123	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7170881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172763	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180908	0.81[YRI][hapmap]
rs721667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025449	0.82[AFR][1000 genomes]
rs8030946	0.86[JPT][hapmap]
rs8033477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8040445	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs892771	0.87[CHB][hapmap]
rs892772	0.87[CHB][hapmap]
rs892775	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs9302270	0.92[ASN][1000 genomes]
rs9302271	0.94[CHB][hapmap];0.92[ASN][1000 genomes]
rs957467	0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[ASN][1000 genomes]
rs9635321	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs967091	0.86[CHB][hapmap]
rs968275	0.86[JPT][hapmap]
rs9744361	0.95[LWK][hapmap];0.97[MKK][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34041	chr15:33720726-33871487	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1435121	HERC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33827400-33877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:33833200-33858400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:33841600-33857200	Weak transcription	Fetal Brain Female	brain
4	chr15:33844800-33860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:33846400-33857600	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:33846400-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:33851800-33856800	Weak transcription	Aorta	Aorta
8	chr15:33851800-33857800	Weak transcription	Brain Anterior Caudate	brain
9	chr15:33853600-33856800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:33853800-33857400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:33855200-33858000	Strong transcription	Stomach Smooth Muscle	stomach

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