Variant report

Variant	rs4916384
Chromosome Location	chr1:171395913-171395914
allele	C/T
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:6)

rs_ID	r²[population]
rs10798394	0.90[AFR][1000 genomes]
rs10798395	0.88[AFR][1000 genomes]
rs12072674	0.88[AFR][1000 genomes]
rs33940673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7540116	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470745	chr1:171381746-171409514	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv465628	chr1:171381746-171409515	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548189	chr1:171381746-171409515	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171390800-171398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:171391200-171397400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:171391200-171397800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:171392000-171396800	Weak transcription	HUVEC	blood vessel
5	chr1:171392200-171397000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:171392800-171402800	Weak transcription	NHLF	lung
7	chr1:171394400-171397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:171394400-171397400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:171394600-171397200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:171395200-171396000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr1:171395400-171396000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr1:171395600-171396000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr1:171395600-171396000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr1:171395600-171396200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:171395600-171397200	Enhancers	Brain Substantia Nigra	brain
16	chr1:171395600-171397800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:171395600-171397800	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:171395800-171396000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:171395800-171396000	Enhancers	NHEK	skin
20	chr1:171395800-171396800	Enhancers	Brain Angular Gyrus	brain
21	chr1:171395800-171397200	Enhancers	Brain Inferior Temporal Lobe	brain

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