Variant report

Variant	rs165625
Chromosome Location	chr22:29886413-29886414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29886134..29888747-chr22:29893821..29896111,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1049534	0.84[CEU][hapmap]
rs1061373	0.90[JPT][hapmap]
rs11704899	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs165663	0.88[EUR][1000 genomes]
rs165668	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs165743	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs165803	0.80[EUR][1000 genomes]
rs165894	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174651	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074948	0.89[CEU][hapmap]
rs2074951	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2188120	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[EUR][1000 genomes]
rs2302141	0.89[CEU][hapmap]
rs456285	0.80[CEU][hapmap]
rs460428	0.80[CEU][hapmap]
rs468692	0.80[CEU][hapmap]
rs469363	0.89[CEU][hapmap]
rs55652051	0.82[ASN][1000 genomes]
rs5752930	0.87[EUR][1000 genomes]
rs5752933	0.80[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752937	0.82[EUR][1000 genomes]
rs5763241	0.82[CHD][hapmap]
rs5763269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763275	0.90[EUR][1000 genomes]
rs5763276	0.88[EUR][1000 genomes]
rs5763286	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763287	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763292	0.80[EUR][1000 genomes]
rs5763293	0.81[EUR][1000 genomes]
rs5763297	0.89[CEU][hapmap]
rs5763301	0.89[CEU][hapmap]
rs5763303	0.89[CEU][hapmap]
rs5763306	0.89[CEU][hapmap]
rs7609	0.89[CEU][hapmap]
rs8137532	0.90[EUR][1000 genomes]
rs8140848	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs165625	EIF4ENIF1	cis	parietal	SCAN
rs165625	ASCC2	cis	cerebellum	SCAN
rs165625	THOC5	cis	Adipose Subcutaneous	GTEx
rs165625	THOC5	cis	Thyroid	GTEx
rs165625	THOC5	cis	Artery Tibial	GTEx
rs165625	CHEK2	cis	cerebellum	SCAN
rs165625	ZMAT5	cis	parietal	SCAN
rs165625	THOC5	cis	Esophagus Muscularis	GTEx
rs165625	THOC5	cis	Muscle Skeletal	GTEx
rs165625	THOC5	cis	Artery Aorta	GTEx
rs165625	THOC5	cis	lung	GTEx
rs165625	CABP7	cis	cerebellum	SCAN
rs165625	THOC5	cis	Nerve Tibial	GTEx
rs165625	NIPSNAP1	cis	cerebellum	SCAN
rs165625	THOC5	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29877400-29900600	Weak transcription	Right Atrium	heart
2	chr22:29878000-29900800	Weak transcription	Fetal Brain Female	brain
3	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
4	chr22:29878200-29886800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29878200-29888400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:29878200-29890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:29878400-29895600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29878400-29899800	Weak transcription	Fetal Intestine Large	intestine
9	chr22:29878400-29899800	Weak transcription	NH-A	brain
10	chr22:29878600-29890600	Weak transcription	HSMM	muscle
11	chr22:29878800-29890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:29879000-29890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:29879000-29898600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:29879000-29899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29879200-29890600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29879200-29901200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:29879600-29898800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:29879600-29899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:29880200-29890600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29880400-29901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29882000-29899200	Weak transcription	Brain Angular Gyrus	brain
23	chr22:29882600-29890600	Weak transcription	Fetal Intestine Small	intestine
24	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:29883400-29890600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:29883400-29890600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:29883600-29899800	Weak transcription	Brain Germinal Matrix	brain
28	chr22:29883800-29890200	Weak transcription	Ovary	ovary
29	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:29884400-29886800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr22:29884600-29886800	Enhancers	Primary B cells from peripheral blood	blood
33	chr22:29884800-29901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:29885000-29889000	Weak transcription	Adipose Nuclei	Adipose
35	chr22:29885000-29890000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr22:29885400-29890600	Weak transcription	Spleen	Spleen
38	chr22:29885600-29890600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:29886000-29886800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr22:29886000-29903400	Weak transcription	Gastric	stomach
42	chr22:29886200-29895400	Weak transcription	Fetal Stomach	stomach
43	chr22:29886200-29899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:29886400-29887400	Enhancers	Rectal Mucosa Donor 29	rectum

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