Variant report

Variant	rs2089063
Chromosome Location	chr4:127764630-127764631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
2	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
3	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
4	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10446736	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11724202	0.81[AMR][1000 genomes]
rs11724587	0.85[EUR][1000 genomes]
rs11724702	0.85[EUR][1000 genomes]
rs11731527	0.83[EUR][1000 genomes]
rs11732835	0.85[EUR][1000 genomes]
rs11734063	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11942125	0.85[EUR][1000 genomes]
rs12504419	0.87[CEU][hapmap]
rs12507438	0.83[ASN][1000 genomes]
rs12511029	0.82[EUR][1000 genomes]
rs12645687	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646727	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649784	0.95[JPT][hapmap]
rs13104202	0.85[EUR][1000 genomes]
rs13105260	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13114288	0.85[EUR][1000 genomes]
rs13114331	0.85[EUR][1000 genomes]
rs13115066	0.83[EUR][1000 genomes]
rs13117741	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13121117	0.85[EUR][1000 genomes]
rs13122470	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13135503	0.85[EUR][1000 genomes]
rs13145472	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13147729	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13148797	0.85[EUR][1000 genomes]
rs13152329	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13152790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472702	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1503609	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1503613	0.90[ASN][1000 genomes]
rs1503632	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1503634	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1604721	0.85[EUR][1000 genomes]
rs1604722	0.85[EUR][1000 genomes]
rs16997944	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1948826	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2102215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134642	0.85[ASN][1000 genomes]
rs2202279	0.85[ASN][1000 genomes]
rs4295276	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4397007	0.85[EUR][1000 genomes]
rs4639084	0.85[EUR][1000 genomes]
rs4833357	0.85[EUR][1000 genomes]
rs4834148	0.85[EUR][1000 genomes]
rs4834152	0.84[EUR][1000 genomes]
rs6534582	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6822430	0.83[EUR][1000 genomes]
rs6855733	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857787	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7439947	0.85[EUR][1000 genomes]
rs7677910	0.84[EUR][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	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3367258	chr4:127749396-127772702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 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	chr4:127764000-127765400	ZNF genes & repeats	K562	blood
2	chr4:127764200-127765200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:127764600-127765000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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