Variant report

Variant	rs367538
Chromosome Location	chr7:107729565-107729566
allele	C/T
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:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:107719784..107721782-chr7:107727829..107731774,3	K562	blood:
2	chr7:107716979..107718489-chr7:107727932..107729700,2	K562	blood:
3	chr7:107726591..107729678-chr7:107731345..107733057,3	K562	blood:
4	chr7:107724804..107726471-chr7:107729180..107731938,2	MCF-7	breast:
5	chr7:107729546..107731523-chr7:107740327..107742242,2	K562	blood:
6	chr7:107726808..107729595-chr7:107731929..107733559,2	MCF-7	breast:
7	chr7:107727721..107729892-chr7:107735771..107737786,2	K562	blood:
8	chr7:107401259..107403795-chr7:107728540..107730917,2	MCF-7	breast:

No data

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs17155006	0.81[CEU][hapmap]
rs366690	0.81[EUR][1000 genomes]
rs369505	0.88[CEU][hapmap]
rs369508	0.87[CEU][hapmap]
rs370495	0.81[EUR][1000 genomes]
rs376552	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377007	0.88[CEU][hapmap]
rs378641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs378962	0.88[TSI][hapmap]
rs379821	0.88[CEU][hapmap]
rs380046	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382131	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389486	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390547	0.81[CEU][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs397941	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399290	0.89[EUR][1000 genomes]
rs401066	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs401145	0.87[EUR][1000 genomes]
rs401487	0.88[ASW][hapmap];0.97[LWK][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs402113	0.88[TSI][hapmap]
rs402264	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs403731	0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs405239	0.89[CEU][hapmap]
rs408643	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs409815	0.88[TSI][hapmap]
rs410286	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs410866	0.88[TSI][hapmap]
rs411396	0.80[EUR][1000 genomes]
rs416811	0.89[EUR][1000 genomes]
rs418255	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs419031	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs420753	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs423686	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs424866	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs424978	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs425623	0.81[EUR][1000 genomes]
rs426812	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429252	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs430995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs433534	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435125	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs435522	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs435744	0.81[EUR][1000 genomes]
rs436573	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs437336	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438114	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs446566	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs446800	0.81[EUR][1000 genomes]
rs448559	0.86[TSI][hapmap]
rs448742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs450722	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451252	0.88[TSI][hapmap]
rs6974722	0.88[TSI][hapmap]
rs93619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs94604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs985152	0.88[CEU][hapmap];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:23 , 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	chr7:107726600-107735600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:107727600-107730400	Enhancers	Fetal Intestine Large	intestine
8	chr7:107728000-107730400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:107728000-107734400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:107728200-107733600	Weak transcription	NHDF-Ad	bronchial
11	chr7:107728400-107734400	Weak transcription	HSMMtube	muscle
12	chr7:107728800-107729800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:107729000-107729600	Enhancers	HepG2	liver
14	chr7:107729000-107731400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:107729200-107729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:107729200-107729600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:107729200-107729800	Enhancers	Hela-S3	cervix
18	chr7:107729200-107729800	Enhancers	HMEC	breast
19	chr7:107729200-107729800	Enhancers	NHLF	lung
20	chr7:107729200-107730200	Enhancers	Fetal Intestine Small	intestine
21	chr7:107729400-107730000	Enhancers	A549	lung
22	chr7:107729400-107730200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:107729400-107730200	Enhancers	Placenta	Placenta

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