Variant report

Variant	rs28531370
Chromosome Location	chr4:127625137-127625138
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	chr4:127620374..127622930-chr4:127624582..127626551,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10005429	1.00[AMR][1000 genomes]
rs10010288	0.84[AFR][1000 genomes]
rs10012156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10018103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10018738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020503	1.00[AMR][1000 genomes]
rs10020664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020702	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034305	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11930592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11933364	1.00[AMR][1000 genomes]
rs11934251	0.81[AFR][1000 genomes]
rs11935137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11939318	0.81[AFR][1000 genomes]
rs11939964	0.81[AFR][1000 genomes]
rs11942072	0.81[AFR][1000 genomes]
rs11945977	0.81[AFR][1000 genomes]
rs11947628	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434502	1.00[AMR][1000 genomes]
rs13435151	0.81[AFR][1000 genomes]
rs1552664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17011392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17011543	0.82[AFR][1000 genomes]
rs17011549	0.82[AFR][1000 genomes]
rs17011608	0.81[AFR][1000 genomes]
rs28386846	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28416472	0.85[AFR][1000 genomes]
rs28439505	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28499063	1.00[AMR][1000 genomes]
rs28578629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28605129	0.93[AFR][1000 genomes]
rs28625618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670367	1.00[AMR][1000 genomes]
rs28671296	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28697890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721403	0.91[AFR][1000 genomes]
rs28817587	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28890552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826241	0.81[AFR][1000 genomes]
rs6831800	0.81[AFR][1000 genomes]
rs6852317	0.81[AFR][1000 genomes]
rs7653964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7673481	0.82[AFR][1000 genomes]
rs7677436	0.82[AFR][1000 genomes]
rs7681644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682055	0.81[AFR][1000 genomes]
rs7691426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9995510	0.91[AFR][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:8 , 50 per page) page: 1

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

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