Variant report

Variant	rs6687549
Chromosome Location	chr1:180477900-180477901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180475874..180478191-chr1:180876405..180878892,2	K562	blood:
2	chr1:180462761..180465502-chr1:180475330..180477923,2	K562	blood:
3	chr1:180469977..180474881-chr1:180475033..180479240,11	K562	blood:
4	chr1:180476735..180478497-chr1:180482619..180484583,3	K562	blood:
5	chr1:180469977..180473874-chr1:180475273..180479240,10	K562	blood:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10158367	0.88[ASN][1000 genomes]
rs10465516	0.83[ASN][1000 genomes]
rs10494527	0.86[ASN][1000 genomes]
rs10753208	0.84[ASN][1000 genomes]
rs10753209	0.86[ASN][1000 genomes]
rs10753211	0.88[ASN][1000 genomes]
rs10753212	0.88[ASN][1000 genomes]
rs10798746	0.83[ASN][1000 genomes]
rs10798756	0.86[ASN][1000 genomes]
rs10798757	0.86[ASN][1000 genomes]
rs10798759	0.86[ASN][1000 genomes]
rs10798760	0.85[ASN][1000 genomes]
rs10798762	0.85[ASN][1000 genomes]
rs10798766	0.86[ASN][1000 genomes]
rs10798769	0.85[ASN][1000 genomes]
rs10798770	0.91[ASN][1000 genomes]
rs10798771	0.90[ASN][1000 genomes]
rs10913968	0.82[ASN][1000 genomes]
rs10913973	0.82[ASN][1000 genomes]
rs10913974	0.86[ASN][1000 genomes]
rs10913976	0.86[ASN][1000 genomes]
rs10913978	0.86[ASN][1000 genomes]
rs10913980	0.86[ASN][1000 genomes]
rs10913981	0.86[ASN][1000 genomes]
rs10913982	0.86[ASN][1000 genomes]
rs10913983	0.86[ASN][1000 genomes]
rs10913984	0.86[ASN][1000 genomes]
rs10913985	0.84[ASN][1000 genomes]
rs10913986	0.86[ASN][1000 genomes]
rs10913987	0.86[ASN][1000 genomes]
rs10913994	0.81[ASN][1000 genomes]
rs10913998	0.88[ASN][1000 genomes]
rs10914001	0.88[ASN][1000 genomes]
rs10914005	0.86[ASN][1000 genomes]
rs10914010	0.86[ASN][1000 genomes]
rs10914014	0.92[ASN][1000 genomes]
rs10914016	0.89[ASN][1000 genomes]
rs10914017	0.88[ASN][1000 genomes]
rs11580793	0.90[ASN][1000 genomes]
rs11799870	0.84[ASN][1000 genomes]
rs12034217	0.87[ASN][1000 genomes]
rs12034669	0.81[ASN][1000 genomes]
rs12039933	0.81[ASN][1000 genomes]
rs12041620	0.88[EUR][1000 genomes]
rs12045123	0.81[ASN][1000 genomes]
rs12085808	0.81[ASN][1000 genomes]
rs12121043	0.90[ASN][1000 genomes]
rs12122338	0.86[ASN][1000 genomes]
rs12127886	0.88[ASN][1000 genomes]
rs12128560	0.84[ASN][1000 genomes]
rs12129511	0.85[ASN][1000 genomes]
rs12129784	0.86[ASN][1000 genomes]
rs12131071	0.88[ASN][1000 genomes]
rs12132837	0.87[ASN][1000 genomes]
rs12135463	0.88[ASN][1000 genomes]
rs12141348	0.86[ASN][1000 genomes]
rs12141848	0.86[ASN][1000 genomes]
rs12143350	0.83[ASN][1000 genomes]
rs12407122	0.81[ASN][1000 genomes]
rs12561776	0.82[ASN][1000 genomes]
rs12730889	0.88[ASN][1000 genomes]
rs12733492	0.90[ASN][1000 genomes]
rs1416821	0.86[ASN][1000 genomes]
rs1538620	0.89[ASN][1000 genomes]
rs16856086	0.88[EUR][1000 genomes]
rs1890731	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1970400	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105232	0.91[ASN][1000 genomes]
rs2296378	0.80[ASN][1000 genomes]
rs28506072	0.83[ASN][1000 genomes]
rs3806300	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3806301	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3923222	0.86[ASN][1000 genomes]
rs4076403	0.87[ASN][1000 genomes]
rs4142992	0.88[ASN][1000 genomes]
rs4418555	0.87[ASN][1000 genomes]
rs4420052	0.87[ASN][1000 genomes]
rs4421553	0.86[ASN][1000 genomes]
rs4442335	0.84[ASN][1000 genomes]
rs4578179	0.86[ASN][1000 genomes]
rs4607831	0.88[ASN][1000 genomes]
rs4634864	0.86[ASN][1000 genomes]
rs4651064	0.88[ASN][1000 genomes]
rs4652504	0.82[ASN][1000 genomes]
rs4652505	0.88[ASN][1000 genomes]
rs60286873	0.81[ASN][1000 genomes]
rs6425641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425644	0.88[EUR][1000 genomes]
rs6665719	0.83[ASN][1000 genomes]
rs6670544	0.88[ASN][1000 genomes]
rs6674244	0.88[ASN][1000 genomes]
rs6687442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6697924	0.86[ASN][1000 genomes]
rs6699585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700986	0.88[ASN][1000 genomes]
rs6704334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72720915	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72720917	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72720922	0.86[EUR][1000 genomes]
rs7521151	0.82[EUR][1000 genomes]
rs7523003	0.85[ASN][1000 genomes]
rs7523857	0.88[ASN][1000 genomes]
rs7528650	0.88[ASN][1000 genomes]
rs7532806	0.86[ASN][1000 genomes]
rs9701037	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9726041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9730180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472400-180481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
3	chr1:180474800-180481800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180476200-180478400	Enhancers	NHLF	lung
5	chr1:180477000-180478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:180477000-180478600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:180477600-180478000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:180477600-180478200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:180477600-180478800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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