Variant report

Variant	rs4704198
Chromosome Location	chr5:74537870-74537871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10058171	0.81[ASN][1000 genomes]
rs10942731	0.81[ASN][1000 genomes]
rs17671266	0.89[ASN][1000 genomes]
rs1833722	0.89[ASN][1000 genomes]
rs4703656	0.89[ASN][1000 genomes]
rs4704195	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56371963	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6896496	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73763040	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7715608	0.89[ASN][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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv882190	chr5:74463185-74554826	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv882191	chr5:74478078-74554826	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74535000-74538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:74535000-74540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:74535400-74538000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:74535400-74539000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74535600-74539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:74535800-74539200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:74536200-74538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:74536200-74539200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:74536200-74540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:74536400-74538000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:74536400-74538000	Weak transcription	HMEC	breast
12	chr5:74537400-74538200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:74537400-74538400	Enhancers	Placenta	Placenta
14	chr5:74537400-74539800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:74537800-74538200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:74537800-74538200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:74537800-74538200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:74537800-74539000	Enhancers	NHEK	skin
19	chr5:74537800-74540200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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