Variant report

Variant	rs59049129
Chromosome Location	chr4:127697563-127697564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127695739..127697770-chr4:127877137..127879165,2	K562	blood:
2	chr4:127694347..127698453-chr4:127713165..127717264,5	K562	blood:
3	chr4:127695737..127697601-chr4:127770299..127773125,2	K562	blood:
4	chr4:127694991..127697764-chr4:127874695..127878637,6	K562	blood:
5	chr4:127654180..127661020-chr4:127693803..127700410,12	K562	blood:
6	chr4:127654180..127658212-chr4:127693803..127700290,9	K562	blood:
7	chr4:127696264..127698678-chr4:127874695..127876616,2	K562	blood:
8	chr4:127694329..127698868-chr4:127713362..127717264,4	K562	blood:

No data

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1032819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1032820	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518504	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10518505	0.92[ASN][1000 genomes]
rs10518506	0.92[ASN][1000 genomes]
rs10518507	0.91[ASN][1000 genomes]
rs10857118	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098890	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098895	0.90[ASN][1000 genomes]
rs1167189	0.94[ASN][1000 genomes]
rs11722194	0.92[ASN][1000 genomes]
rs11724202	0.89[ASN][1000 genomes]
rs11730606	0.92[ASN][1000 genomes]
rs11734063	0.81[ASN][1000 genomes]
rs12499781	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12500556	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12502596	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12506431	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12507245	0.94[ASN][1000 genomes]
rs12507438	0.85[ASN][1000 genomes]
rs12510029	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512290	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513219	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12641994	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12642024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642095	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12642632	0.90[ASN][1000 genomes]
rs12646727	0.81[ASN][1000 genomes]
rs12647245	0.86[ASN][1000 genomes]
rs12649784	0.86[ASN][1000 genomes]
rs13101665	0.92[ASN][1000 genomes]
rs13104073	0.95[ASN][1000 genomes]
rs13105260	0.87[ASN][1000 genomes]
rs13111812	0.92[ASN][1000 genomes]
rs13112009	0.92[ASN][1000 genomes]
rs13115416	0.84[ASN][1000 genomes]
rs13117741	0.83[ASN][1000 genomes]
rs13120233	0.91[ASN][1000 genomes]
rs13120674	0.91[ASN][1000 genomes]
rs13121471	0.92[ASN][1000 genomes]
rs13123489	0.92[ASN][1000 genomes]
rs13129376	0.92[ASN][1000 genomes]
rs13134285	0.92[ASN][1000 genomes]
rs13134708	0.85[ASN][1000 genomes]
rs13138589	0.92[ASN][1000 genomes]
rs13145472	0.88[ASN][1000 genomes]
rs13147181	0.91[ASN][1000 genomes]
rs13147327	0.92[ASN][1000 genomes]
rs13147530	0.92[ASN][1000 genomes]
rs13147729	0.85[ASN][1000 genomes]
rs13150274	0.91[ASN][1000 genomes]
rs13150362	0.89[ASN][1000 genomes]
rs1388240	0.92[ASN][1000 genomes]
rs1503616	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503617	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1503618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503622	0.90[ASN][1000 genomes]
rs1503628	0.92[ASN][1000 genomes]
rs1604723	0.92[ASN][1000 genomes]
rs16997928	0.92[ASN][1000 genomes]
rs17011502	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011512	0.92[ASN][1000 genomes]
rs17011514	0.92[ASN][1000 genomes]
rs17011515	0.92[ASN][1000 genomes]
rs17011535	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17011593	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011594	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011614	0.95[ASN][1000 genomes]
rs1847345	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1955280	0.90[ASN][1000 genomes]
rs1995473	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202279	0.86[ASN][1000 genomes]
rs2391093	0.91[ASN][1000 genomes]
rs2391100	0.90[ASN][1000 genomes]
rs2391101	0.92[ASN][1000 genomes]
rs34078351	0.93[ASN][1000 genomes]
rs34402168	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35077555	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35119048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35815056	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4295276	0.92[ASN][1000 genomes]
rs4373174	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4413416	0.92[ASN][1000 genomes]
rs4833353	0.92[ASN][1000 genomes]
rs4833354	0.92[ASN][1000 genomes]
rs55723347	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55832124	0.88[ASN][1000 genomes]
rs56167450	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56261161	0.87[ASN][1000 genomes]
rs56807249	0.88[ASN][1000 genomes]
rs57858535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57921410	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57945585	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60076307	0.97[ASN][1000 genomes]
rs60726529	0.93[ASN][1000 genomes]
rs60860289	0.97[ASN][1000 genomes]
rs62322164	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62322165	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62322169	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62322170	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62322171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62322173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62322174	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62322183	0.94[ASN][1000 genomes]
rs62322186	0.90[ASN][1000 genomes]
rs62322221	0.88[ASN][1000 genomes]
rs62324179	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62324214	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324216	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62324219	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62324220	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62324222	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62324225	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62324227	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324228	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324229	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324230	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534582	0.88[ASN][1000 genomes]
rs6811594	0.92[ASN][1000 genomes]
rs6839577	0.90[ASN][1000 genomes]
rs6846559	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6857787	0.87[ASN][1000 genomes]
rs72674475	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72674477	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674499	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72675928	0.88[ASN][1000 genomes]
rs7660971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7661738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7664355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665607	0.90[ASN][1000 genomes]
rs7688921	0.92[ASN][1000 genomes]
rs7695444	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7696279	0.95[ASN][1000 genomes]
rs951784	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	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
9	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
10	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127683800-127698000	Weak transcription	HMEC	breast
2	chr4:127685200-127698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:127691800-127698000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:127694000-127697600	Weak transcription	HSMM	muscle
5	chr4:127694000-127697600	Weak transcription	HSMMtube	muscle
6	chr4:127696200-127698200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:127696800-127698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:127696800-127698200	Enhancers	NHDF-Ad	bronchial
9	chr4:127696800-127698400	Enhancers	Fetal Heart	heart
10	chr4:127697000-127697800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:127697000-127698600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:127697200-127699800	Active TSS	K562	blood
13	chr4:127697400-127697800	Weak transcription	HUVEC	blood vessel

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