Variant report

Variant	rs73170547
Chromosome Location	chr22:34118989-34118990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483174	0.81[AMR][1000 genomes]
rs16992874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416378	0.87[AMR][1000 genomes]
rs5999073	0.87[ASN][1000 genomes]
rs61150953	0.87[AMR][1000 genomes]
rs73170544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170549	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170561	0.87[AMR][1000 genomes]
rs73170572	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1060684	chr22:34108462-34140653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34110800-34119800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:34110800-34120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:34110800-34122200	Weak transcription	Aorta	Aorta
5	chr22:34111000-34121400	Weak transcription	Ovary	ovary
6	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:34111800-34122000	Weak transcription	Fetal Stomach	stomach
8	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
9	chr22:34112600-34119800	Weak transcription	Left Ventricle	heart
10	chr22:34114600-34119200	Weak transcription	Fetal Heart	heart
11	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:34116800-34122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:34117000-34120000	Weak transcription	Gastric	stomach
14	chr22:34117000-34120000	Weak transcription	Pancreas	Pancrea
15	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:34117400-34120000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:34117400-34122400	Weak transcription	Liver	Liver
18	chr22:34118400-34120000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:34118400-34121600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:34118400-34121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:34118400-34122400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:34118600-34119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:34118600-34121600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:34118800-34119000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:34118800-34119000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:34118800-34119000	Enhancers	Fetal Brain Female	brain
27	chr22:34118800-34119200	Enhancers	Spleen	Spleen
28	chr22:34118800-34119400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:34118800-34119600	Enhancers	NHEK	skin
30	chr22:34118800-34119800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:34118800-34120200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:34118800-34120200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:34118800-34121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:34118800-34121600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links