Variant report

Variant	rs2963388
Chromosome Location	chr5:8953424-8953425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:8951345..8954087-chr5:8958515..8960198,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2962652	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2962736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963346	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963364	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2963387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942353	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	esv3492014	chr5:8749469-9004066	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3492015	chr5:8749469-9004066	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830199	chr5:8855056-9024096	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1016483	chr5:8908533-8978530	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1020587	chr5:8910149-8976370	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv537639	chr5:8910149-8976370	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv1026907	chr5:8929514-8958258	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8944000-8980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:8950400-8953800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:8951600-8954600	Flanking Active TSS	Dnd41	blood
4	chr5:8952600-8953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:8953200-8954400	Enhancers	NHLF	lung
6	chr5:8953400-8953800	Weak transcription	Primary hematopoietic stem cells	blood

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