Variant report

Variant	rs7195180
Chromosome Location	chr16:70328445-70328446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr16:70328374-70328678	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr16:70328278-70328769	K562	blood:	n/a	n/a
3	MAX	chr16:70328418-70328864	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr16:70328413-70328579	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
2	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
3	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
4	chr16:70326803..70329805-chr16:70331309..70336594,5	K562	blood:
5	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:

No data

No data

No data

Variant related genes	Relation type
AARS	TF binding region
DDX19B	TF binding region
ENSG00000260537	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28605415	1.00[AMR][1000 genomes]
rs28689052	1.00[AMR][1000 genomes]
rs28827617	1.00[AMR][1000 genomes]
rs28848878	1.00[AMR][1000 genomes]
rs3972068	1.00[AMR][1000 genomes]
rs7184495	1.00[ASW][hapmap];0.83[MKK][hapmap]
rs7187629	0.93[AFR][1000 genomes]
rs7189290	1.00[AMR][1000 genomes]
rs7192564	0.86[AFR][1000 genomes]
rs7196338	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs7200890	1.00[AMR][1000 genomes]
rs7203007	1.00[ASW][hapmap]
rs7205416	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs8046296	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8058557	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs8059844	1.00[YRI][hapmap]
rs9931559	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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70324000-70332400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:70324000-70332600	Weak transcription	NHEK	skin
3	chr16:70324000-70332800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:70324200-70329000	Weak transcription	HepG2	liver
5	chr16:70324200-70332400	Weak transcription	Colonic Mucosa	Colon
6	chr16:70324200-70332400	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:70324200-70332600	Weak transcription	Placenta	Placenta
8	chr16:70324400-70332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:70325400-70332400	Weak transcription	HUVEC	blood vessel
10	chr16:70327800-70328600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:70328400-70328800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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