Variant report

Variant	rs10889294
Chromosome Location	chr1:62630362-62630363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789103	0.85[EUR][1000 genomes]
rs10789104	0.85[EUR][1000 genomes]
rs10789105	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889292	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207907	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs11207909	0.87[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11207914	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022641	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12040256	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044746	0.81[MEX][hapmap]
rs12059368	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091837	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12562124	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57176838	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6684324	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6687095	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976574	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
2	chr1:62605000-62631800	Weak transcription	Lung	lung
3	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62612400-62632600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:62613400-62636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:62616200-62631800	Weak transcription	Right Ventricle	heart
7	chr1:62617200-62632000	Weak transcription	HMEC	breast
8	chr1:62617800-62631600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:62618600-62631400	Weak transcription	Gastric	stomach
10	chr1:62618600-62631800	Weak transcription	Pancreas	Pancrea
11	chr1:62618600-62637800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62621000-62631000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:62621000-62632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:62621200-62631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:62621200-62636600	Weak transcription	Fetal Intestine Large	intestine
16	chr1:62622600-62638000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:62625200-62631000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:62627000-62642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:62628200-62632000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:62628200-62632200	Weak transcription	Aorta	Aorta
21	chr1:62628200-62632200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:62628200-62632400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:62628200-62633000	Weak transcription	Left Ventricle	heart
24	chr1:62628200-62633400	Weak transcription	Liver	Liver
25	chr1:62628400-62634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:62629800-62630400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:62630000-62630400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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