Variant report

Variant	rs389486
Chromosome Location	chr7:107727804-107727805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107724811..107727810-chr7:107733996..107735648,2	K562	blood:
2	chr7:107726591..107729678-chr7:107731345..107733057,3	K562	blood:
3	chr7:107726808..107729595-chr7:107731929..107733559,2	MCF-7	breast:
4	chr7:107727721..107729892-chr7:107735771..107737786,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs366690	0.81[EUR][1000 genomes]
rs367538	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs370495	0.81[EUR][1000 genomes]
rs376552	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs378641	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs380046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs382131	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs390547	0.80[ASN][1000 genomes]
rs397941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399290	0.89[EUR][1000 genomes]
rs401066	0.81[EUR][1000 genomes]
rs401145	0.87[EUR][1000 genomes]
rs401487	0.92[AFR][1000 genomes]
rs402264	0.81[EUR][1000 genomes]
rs403731	0.80[EUR][1000 genomes]
rs408643	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs410286	0.81[EUR][1000 genomes]
rs411396	0.80[EUR][1000 genomes]
rs416811	0.89[EUR][1000 genomes]
rs418255	0.89[EUR][1000 genomes]
rs419031	0.81[EUR][1000 genomes]
rs420753	0.81[EUR][1000 genomes]
rs423686	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs424866	0.89[EUR][1000 genomes]
rs424978	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425623	0.81[EUR][1000 genomes]
rs426812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs429252	0.81[EUR][1000 genomes]
rs430995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs433534	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435125	0.81[EUR][1000 genomes]
rs435522	0.81[EUR][1000 genomes]
rs435744	0.81[EUR][1000 genomes]
rs436573	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs437336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs438114	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs446566	0.89[EUR][1000 genomes]
rs446800	0.81[EUR][1000 genomes]
rs448742	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs450722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs93619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs94604	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs985152	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107700800-107733600	Weak transcription	Pancreas	Pancrea
2	chr7:107720600-107732000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:107721000-107734400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:107723800-107729600	Enhancers	K562	blood
5	chr7:107724600-107734400	Weak transcription	Right Ventricle	heart
6	chr7:107725000-107729400	Weak transcription	A549	lung
7	chr7:107725200-107728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:107725800-107729000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:107726400-107728200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:107726600-107728200	Enhancers	NHDF-Ad	bronchial
11	chr7:107726600-107735600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:107727000-107728000	Enhancers	HepG2	liver
13	chr7:107727200-107728200	Enhancers	Fetal Muscle Leg	muscle
14	chr7:107727200-107728200	Enhancers	HSMM	muscle
15	chr7:107727200-107728200	Enhancers	NHLF	lung
16	chr7:107727400-107729200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:107727400-107729200	Weak transcription	HMEC	breast
18	chr7:107727600-107728000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:107727600-107728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:107727600-107730400	Enhancers	Fetal Intestine Large	intestine
21	chr7:107727800-107728200	Weak transcription	HSMMtube	muscle
22	chr7:107727800-107729400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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