Variant report

Variant	rs17335890
Chromosome Location	chr5:60474300-60474301
allele	A/G
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60459450..60460955-chr5:60472059..60474565,2	MCF-7	breast:
2	chr5:60468797..60470812-chr5:60474024..60476089,2	MCF-7	breast:
3	chr5:60473247..60475039-chr5:60548494..60550640,2	MCF-7	breast:
4	chr5:60472151..60475021-chr5:60626975..60629740,3	K562	blood:
5	chr5:60473979..60476884-chr5:60480404..60482643,2	MCF-7	breast:
6	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
7	chr5:60454738..60463245-chr5:60465333..60477980,25	K562	blood:
8	chr5:60472733..60477448-chr5:60625158..60628299,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFAF2-2	chr5:60474133-60476024	NONHSAT101661

No data

No data

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000249279	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs158698	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs162230	1.00[ASN][1000 genomes]
rs2694527	1.00[ASN][1000 genomes]
rs2694529	1.00[ASN][1000 genomes]
rs61554378	0.84[EUR][1000 genomes]
rs6866414	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60460400-60475000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
3	chr5:60472800-60476600	Weak transcription	Right Atrium	heart
4	chr5:60473400-60474400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:60473800-60476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60474200-60474400	Enhancers	GM12878-XiMat	blood
7	chr5:60474200-60476600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:60474200-60476800	Weak transcription	Primary monocytes fromperipheralblood	blood

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

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