Variant report

Variant	rs1971986
Chromosome Location	chr3:112615294-112615295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1016348	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10934190	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10934192	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10934193	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12497951	0.84[ASN][1000 genomes]
rs13326243	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1387023	0.86[CHB][hapmap]
rs1387024	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1392786	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1466872	0.83[ASN][1000 genomes]
rs1488193	0.91[CHB][hapmap]
rs1500878	0.80[AMR][1000 genomes]
rs1500879	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1844084	0.95[CHB][hapmap]
rs2087284	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2101440	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2171509	0.83[ASN][1000 genomes]
rs2399436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2399443	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28859668	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28867393	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4103791	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs4234417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4571210	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682120	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682125	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4682440	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4682441	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4682444	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682447	0.91[CHB][hapmap]
rs6438111	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6438112	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6438113	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6438114	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6438118	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs6438119	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs6438120	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6438122	1.00[CHB][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs6765367	0.82[EUR][1000 genomes]
rs6765379	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6766388	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6769091	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs6772799	0.83[ASN][1000 genomes]
rs6780406	0.80[CEU][hapmap]
rs6784838	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs6791158	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6791672	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6808249	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7355890	0.83[ASN][1000 genomes]
rs7611690	0.83[ASN][1000 genomes]
rs7615462	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7615572	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs7622812	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7622814	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7632218	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7640561	0.82[CHB][hapmap]
rs7646849	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7652504	0.83[ASN][1000 genomes]
rs7652536	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9815606	0.83[ASN][1000 genomes]
rs9818564	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9819079	0.81[ASN][1000 genomes]
rs9823363	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs9826308	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs9833991	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs9834353	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9834840	0.84[ASN][1000 genomes]
rs9838082	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9847365	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9854885	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs9864295	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9865242	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9868053	0.83[ASN][1000 genomes]
rs9868839	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9870335	0.84[ASN][1000 genomes]
rs9870568	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9871985	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs9875551	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9877631	0.84[ASN][1000 genomes]
rs9883255	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic 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	39 gene(s)	inside rSNPs	diseases
2	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112604200-112616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:112612000-112617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:112612800-112615600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:112613000-112615800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:112613600-112615400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:112613600-112615600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:112613800-112615400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:112613800-112615400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:112614000-112615400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:112614200-112615400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:112614400-112615400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:112614800-112616200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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