Variant report

Variant	rs62409621
Chromosome Location	chr2:101717641-101717642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101717061..101719609-chr2:101756033..101757824,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10024284	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10024389	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10084781	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10084782	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10084842	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10084859	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10213047	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10470763	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938386	0.92[ASN][1000 genomes]
rs1159117	0.92[ASN][1000 genomes]
rs1159118	0.92[ASN][1000 genomes]
rs11729006	0.92[ASN][1000 genomes]
rs11941164	0.92[ASN][1000 genomes]
rs12640145	0.92[ASN][1000 genomes]
rs13106713	0.92[ASN][1000 genomes]
rs13133961	0.92[ASN][1000 genomes]
rs13142361	0.92[ASN][1000 genomes]
rs13146241	0.92[ASN][1000 genomes]
rs1319519	0.81[ASN][1000 genomes]
rs13434591	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13434955	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512300	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512305	0.92[ASN][1000 genomes]
rs1512313	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512314	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512316	0.92[ASN][1000 genomes]
rs1512317	0.92[ASN][1000 genomes]
rs1512318	0.92[ASN][1000 genomes]
rs1512319	0.92[ASN][1000 genomes]
rs1512320	0.92[ASN][1000 genomes]
rs1512321	0.92[ASN][1000 genomes]
rs1606314	0.92[ASN][1000 genomes]
rs1606315	0.92[ASN][1000 genomes]
rs1606316	0.92[ASN][1000 genomes]
rs1606317	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1606318	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17470619	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17470661	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17574252	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17574419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17574467	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1849329	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1849333	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1849334	0.92[ASN][1000 genomes]
rs1849337	0.92[ASN][1000 genomes]
rs1858413	0.92[ASN][1000 genomes]
rs1858414	0.92[ASN][1000 genomes]
rs1960115	0.92[ASN][1000 genomes]
rs2048542	0.92[ASN][1000 genomes]
rs2048543	0.92[ASN][1000 genomes]
rs2048544	0.92[ASN][1000 genomes]
rs2048545	0.92[ASN][1000 genomes]
rs2102595	0.92[ASN][1000 genomes]
rs2348812	0.92[ASN][1000 genomes]
rs28547392	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28595673	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28787380	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28819701	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2882028	0.92[ASN][1000 genomes]
rs28871337	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4305555	0.92[ASN][1000 genomes]
rs4306991	0.92[ASN][1000 genomes]
rs4317235	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321671	0.92[ASN][1000 genomes]
rs4371653	0.92[ASN][1000 genomes]
rs4376184	0.92[ASN][1000 genomes]
rs4404583	0.92[ASN][1000 genomes]
rs4422445	0.92[ASN][1000 genomes]
rs4432781	0.92[ASN][1000 genomes]
rs4444869	0.92[ASN][1000 genomes]
rs4473684	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4481272	0.92[ASN][1000 genomes]
rs4492039	0.92[ASN][1000 genomes]
rs4493580	0.88[ASN][1000 genomes]
rs4586989	0.92[ASN][1000 genomes]
rs4586990	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4604088	0.92[ASN][1000 genomes]
rs4624697	0.92[ASN][1000 genomes]
rs4642285	0.92[ASN][1000 genomes]
rs4642286	0.92[ASN][1000 genomes]
rs4643858	0.92[ASN][1000 genomes]
rs4974508	0.92[ASN][1000 genomes]
rs4974513	0.92[ASN][1000 genomes]
rs62409604	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409606	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409607	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409613	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409614	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62409615	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62409624	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409626	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409627	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409628	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409632	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409639	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409642	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409643	0.92[EUR][1000 genomes]
rs62409870	0.92[ASN][1000 genomes]
rs62409874	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62411632	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62411633	0.92[ASN][1000 genomes]
rs62411634	0.92[ASN][1000 genomes]
rs62411635	0.92[ASN][1000 genomes]
rs62411637	0.92[ASN][1000 genomes]
rs62411638	0.92[ASN][1000 genomes]
rs62411640	0.92[ASN][1000 genomes]
rs62411641	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62411642	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6414673	0.92[ASN][1000 genomes]
rs6447414	0.92[ASN][1000 genomes]
rs6447417	0.92[ASN][1000 genomes]
rs6447425	0.92[ASN][1000 genomes]
rs6447426	0.92[ASN][1000 genomes]
rs6447429	0.92[ASN][1000 genomes]
rs6447436	0.92[ASN][1000 genomes]
rs6814348	0.92[ASN][1000 genomes]
rs6815872	0.92[ASN][1000 genomes]
rs6817044	0.92[ASN][1000 genomes]
rs6855504	0.92[ASN][1000 genomes]
rs6856726	0.92[ASN][1000 genomes]
rs7654727	0.92[ASN][1000 genomes]
rs7656136	0.92[ASN][1000 genomes]
rs7659477	0.92[ASN][1000 genomes]
rs7663667	0.92[ASN][1000 genomes]
rs7669613	0.92[ASN][1000 genomes]
rs7669811	0.92[ASN][1000 genomes]
rs7677867	0.92[ASN][1000 genomes]
rs7690331	0.92[ASN][1000 genomes]
rs9917913	0.92[ASN][1000 genomes]
rs991982	0.92[ASN][1000 genomes]
rs996002	0.92[ASN][1000 genomes]
rs996003	0.92[ASN][1000 genomes]
rs9992572	0.92[ASN][1000 genomes]
rs9999206	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932025	chr2:101322079-102083193	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1006667	chr2:101477171-101728535	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv535846	chr2:101477171-101728535	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv998390	chr2:101477171-101831469	Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv834316	chr2:101533048-101731501	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
6	esv34123	chr2:101624916-102008313	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv834317	chr2:101672119-101831677	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3411548	chr2:101685931-101957750	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv531383	chr2:101696480-102262985	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101693000-101726400	Weak transcription	NHDF-Ad	bronchial
2	chr2:101699400-101727600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:101704800-101720800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:101707200-101722600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:101711200-101720800	Weak transcription	Stomach Mucosa	stomach
6	chr2:101711600-101721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:101713400-101722200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:101714400-101718400	Weak transcription	A549	lung
9	chr2:101714400-101722800	Weak transcription	Psoas Muscle	Psoas
10	chr2:101717200-101718400	Weak transcription	H1 Cell Line	embryonic stem cell

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