Variant report

Variant	rs7650658
Chromosome Location	chr3:121131376-121131377
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	chr3:121125400..121127225-chr3:121128769..121131952,3	K562	blood:
2	chr3:121129952..121132930-chr3:121134868..121138546,3	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10451895	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs10934551	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11705939	0.84[ASN][1000 genomes]
rs11707252	0.96[ASN][1000 genomes]
rs11707354	0.90[ASN][1000 genomes]
rs11708438	0.98[ASN][1000 genomes]
rs11709726	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11713643	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11715085	0.90[ASN][1000 genomes]
rs1191296	0.81[AMR][1000 genomes]
rs1191297	0.81[AMR][1000 genomes]
rs12233510	0.98[ASN][1000 genomes]
rs12488196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12634017	0.86[ASN][1000 genomes]
rs13059229	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13065220	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs13076688	0.98[ASN][1000 genomes]
rs13077305	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs13081748	0.98[ASN][1000 genomes]
rs13082118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13086811	0.98[ASN][1000 genomes]
rs13095841	0.95[ASN][1000 genomes]
rs13097659	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1381057	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1381058	0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1381059	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs1397824	0.82[AMR][1000 genomes]
rs1511432	0.81[AMR][1000 genomes]
rs1588538	0.81[AMR][1000 genomes]
rs173087	0.81[AMR][1000 genomes]
rs1795404	0.81[AMR][1000 genomes]
rs1986730	0.98[ASN][1000 genomes]
rs1987097	0.98[ASN][1000 genomes]
rs1987098	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030531	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2126139	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2126140	0.95[ASN][1000 genomes]
rs2127024	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127025	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2141658	0.81[AMR][1000 genomes]
rs2169300	0.98[ASN][1000 genomes]
rs2331921	0.95[ASN][1000 genomes]
rs2656043	0.81[AMR][1000 genomes]
rs3101345	0.88[CEU][hapmap]
rs3218649	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs338958	0.81[AMR][1000 genomes]
rs338959	0.81[AMR][1000 genomes]
rs338969	0.81[AMR][1000 genomes]
rs338973	0.81[AMR][1000 genomes]
rs338981	0.81[AMR][1000 genomes]
rs338983	0.82[AMR][1000 genomes]
rs338994	0.81[AMR][1000 genomes]
rs338996	0.81[AMR][1000 genomes]
rs339000	0.81[AMR][1000 genomes]
rs339006	0.82[AMR][1000 genomes]
rs339011	0.82[AMR][1000 genomes]
rs3732405	0.91[ASN][1000 genomes]
rs3732406	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3772122	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3806614	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3843345	0.84[ASN][1000 genomes]
rs3911713	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4107754	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4346498	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4525804	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4555467	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4676677	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4676719	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4676722	0.83[ASN][1000 genomes]
rs488636	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs502643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs524026	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs541818	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs575913	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs587553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs61796944	0.98[ASN][1000 genomes]
rs6438625	0.98[ASN][1000 genomes]
rs6438626	0.95[ASN][1000 genomes]
rs6438630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6438631	0.90[ASN][1000 genomes]
rs6438633	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6765310	0.98[ASN][1000 genomes]
rs6769377	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6775865	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6782025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784156	0.81[AMR][1000 genomes]
rs6787048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6793029	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6793252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs6796068	0.98[ASN][1000 genomes]
rs6797376	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6798699	0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6806191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs702019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7609781	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612018	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7613752	0.84[ASN][1000 genomes]
rs7615529	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7618570	0.98[ASN][1000 genomes]
rs7621376	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7622867	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7622881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7627978	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632907	1.00[ASW][hapmap];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];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7633930	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7634611	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644928	0.91[ASN][1000 genomes]
rs7645027	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7645544	0.96[ASN][1000 genomes]
rs7645849	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645869	0.84[ASN][1000 genomes]
rs7650439	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849118	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591398	chr3:121046468-121154193	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv591399	chr3:121046468-121160369	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv591401	chr3:121094592-121160369	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7650658	CHST13	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121117400-121139400	Weak transcription	Ovary	ovary
2	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood

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