Variant report

Variant	rs1422999
Chromosome Location	chr5:147452161-147452162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1017222	0.92[YRI][hapmap]
rs12171507	1.00[MEX][hapmap]
rs13360221	1.00[MEX][hapmap]
rs3752676	0.92[YRI][hapmap]
rs73269113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269201	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1834529	chr5:147442199-147456843	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island 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	chr5:147437200-147457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:147440400-147452800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:147443800-147455400	Weak transcription	Esophagus	oesophagus
5	chr5:147449800-147453000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:147450000-147453000	Enhancers	NHEK	skin
7	chr5:147450400-147452800	Enhancers	HMEC	breast
8	chr5:147450400-147469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:147450600-147468600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:147451000-147470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:147451200-147452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:147452000-147452400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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