Variant report

Variant	rs60340975
Chromosome Location	chr3:112154894-112154895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10511317	1.00[AFR][1000 genomes]
rs1072896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13059364	1.00[AFR][1000 genomes]
rs13063173	1.00[AFR][1000 genomes]
rs13078401	1.00[AFR][1000 genomes]
rs13079599	1.00[AFR][1000 genomes]
rs13081265	1.00[AFR][1000 genomes]
rs13086960	1.00[AFR][1000 genomes]
rs13096943	1.00[AFR][1000 genomes]
rs1473485	0.86[ASN][1000 genomes]
rs1488265	0.90[ASN][1000 genomes]
rs1488266	0.90[ASN][1000 genomes]
rs16845068	1.00[AFR][1000 genomes]
rs16859561	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859563	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859568	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859570	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859573	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859587	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16859758	1.00[AFR][1000 genomes]
rs16859849	1.00[AFR][1000 genomes]
rs16859890	1.00[AFR][1000 genomes]
rs2683893	0.86[ASN][1000 genomes]
rs2705538	0.93[ASN][1000 genomes]
rs28364588	1.00[AFR][1000 genomes]
rs28364589	1.00[AFR][1000 genomes]
rs34080815	1.00[AFR][1000 genomes]
rs34541731	1.00[AFR][1000 genomes]
rs34829517	1.00[AFR][1000 genomes]
rs34889961	1.00[AFR][1000 genomes]
rs34949685	1.00[AFR][1000 genomes]
rs34962178	1.00[AFR][1000 genomes]
rs35263368	1.00[AFR][1000 genomes]
rs35526995	1.00[AFR][1000 genomes]
rs35931975	1.00[AFR][1000 genomes]
rs36045008	1.00[AFR][1000 genomes]
rs36153507	1.00[AFR][1000 genomes]
rs3736269	1.00[AFR][1000 genomes]
rs3773701	1.00[AFR][1000 genomes]
rs3773704	1.00[AFR][1000 genomes]
rs56713746	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56735831	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56830153	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56952692	1.00[AFR][1000 genomes]
rs57048961	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57224143	1.00[AFR][1000 genomes]
rs57240433	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58144611	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58164505	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58315065	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58441702	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58657519	1.00[AFR][1000 genomes]
rs58953251	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59191788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59429955	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59650289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59925989	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60001227	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60044977	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60112764	1.00[AFR][1000 genomes]
rs60202763	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60413363	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60646325	1.00[AFR][1000 genomes]
rs60733172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60819545	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60882964	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61147417	1.00[ASN][1000 genomes]
rs61446034	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66546764	1.00[AFR][1000 genomes]
rs66791711	1.00[AFR][1000 genomes]
rs67021100	1.00[AFR][1000 genomes]
rs71317506	1.00[AFR][1000 genomes]
rs71317507	1.00[AFR][1000 genomes]
rs71317508	1.00[AFR][1000 genomes]
rs72936241	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936252	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936259	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72936271	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73229350	1.00[AFR][1000 genomes]
rs73229353	1.00[AFR][1000 genomes]
rs924310	0.90[ASN][1000 genomes]
rs953716	0.93[ASN][1000 genomes]
rs963541	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3331778	chr3:112134311-112164058	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112151800-112156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:112151800-112156600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112154600-112155600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:112154600-112155800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:112154800-112155400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:112154800-112156000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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