Variant report

Variant	rs4146615
Chromosome Location	chr4:127624277-127624278
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	chr4:127621513..127624552-chr4:127627027..127630786,3	K562	blood:
2	chr4:127618713..127621051-chr4:127622381..127624400,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11098889	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11730456	0.80[ASN][1000 genomes]
rs12642270	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12642385	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12644037	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12648195	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12649618	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12651202	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13137093	0.80[ASN][1000 genomes]
rs13145010	0.82[ASN][1000 genomes]
rs1491136	1.00[AMR][1000 genomes]
rs1491137	1.00[AMR][1000 genomes]
rs1503620	1.00[AMR][1000 genomes]
rs17011377	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17011393	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17011398	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17011450	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17011452	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17011495	1.00[AMR][1000 genomes]
rs170197	0.86[ASN][1000 genomes]
rs2008243	1.00[AMR][1000 genomes]
rs2047858	1.00[AFR][1000 genomes]
rs28854355	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs313041	0.83[ASN][1000 genomes]
rs313043	0.80[ASN][1000 genomes]
rs313045	0.80[ASN][1000 genomes]
rs313108	0.83[ASN][1000 genomes]
rs313110	0.83[ASN][1000 genomes]
rs313111	0.83[ASN][1000 genomes]
rs313112	0.83[ASN][1000 genomes]
rs313116	0.82[ASN][1000 genomes]
rs313121	0.90[ASN][1000 genomes]
rs313124	0.86[ASN][1000 genomes]
rs313129	0.86[ASN][1000 genomes]
rs56949181	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57259679	0.83[AMR][1000 genomes]
rs57840308	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58743449	1.00[AFR][1000 genomes]
rs59019179	1.00[AFR][1000 genomes]
rs59319887	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60412879	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61594384	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6840212	1.00[AFR][1000 genomes]
rs6840324	1.00[AFR][1000 genomes]
rs73846080	0.81[ASN][1000 genomes]
rs73846081	0.81[ASN][1000 genomes]
rs73846082	0.81[ASN][1000 genomes]
rs73846083	0.81[ASN][1000 genomes]
rs7660412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7679060	1.00[AFR][1000 genomes]
rs7683495	1.00[AMR][1000 genomes]
rs7697724	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	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
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127619600-127626400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:127622200-127624400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:127622200-127624400	Enhancers	NHDF-Ad	bronchial
4	chr4:127623200-127626000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:127623400-127629400	Weak transcription	HMEC	breast
6	chr4:127623800-127624400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:127623800-127625600	Genic enhancers	K562	blood
8	chr4:127624000-127629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:127624200-127625800	Weak transcription	HSMMtube	muscle
10	chr4:127624200-127626000	Weak transcription	HSMM	muscle

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