Variant report

Variant	rs6738566
Chromosome Location	chr2:100986195-100986196
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	chr2:100937836..100939384-chr2:100985447..100988278,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10172841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10180685	0.95[ASN][1000 genomes]
rs10183063	0.90[ASN][1000 genomes]
rs10198495	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10198682	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10200480	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10201098	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10204833	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10208900	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10208911	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10209186	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1057056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1057063	0.93[ASN][1000 genomes]
rs1057064	1.00[CHB][hapmap]
rs1124009	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13400841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13420942	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1437970	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1437972	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17024034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17024209	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1898573	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1898574	0.82[EUR][1000 genomes]
rs2083148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3748936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3791358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4149506	0.88[ASN][1000 genomes]
rs4149509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4149514	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4149515	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4149516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4850932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55932868	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56741959	0.95[ASN][1000 genomes]
rs57862179	0.88[ASN][1000 genomes]
rs58164864	0.95[ASN][1000 genomes]
rs58674788	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59701896	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59858985	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60468180	0.95[ASN][1000 genomes]
rs60566188	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61710328	0.95[ASN][1000 genomes]
rs6542933	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542939	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6542943	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs6542945	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6706707	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708942	0.85[AMR][1000 genomes]
rs6714109	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6725672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6728575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736938	0.90[ASN][1000 genomes]
rs6739576	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6739589	0.93[ASN][1000 genomes]
rs6740098	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6749572	0.95[ASN][1000 genomes]
rs6750040	1.00[CHB][hapmap]
rs6754379	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6754869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6755285	0.95[ASN][1000 genomes]
rs6755395	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6758622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6761084	0.90[ASN][1000 genomes]
rs72960172	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73966105	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73966106	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73968413	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7556717	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7559084	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561065	0.95[ASN][1000 genomes]
rs7562184	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562636	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562754	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565502	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567130	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571410	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7571651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7571659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7575422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7582096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7585713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7596483	0.95[ASN][1000 genomes]
rs7597631	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7597722	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7598205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598227	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7605834	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7606723	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs876439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv963673	chr2:100971453-100986967	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100983600-100986200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:100985800-100986200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:100985800-100987000	Enhancers	HUES48 Cell Line	embryonic stem cell

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