Variant report

Variant	rs181366
Chromosome Location	chr22:21933780-21933781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21922004..21926515-chr22:21931742..21935635,4	MCF-7	breast:
2	chr22:21932735..21934661-chr22:21994941..21997565,2	MCF-7	breast:
3	chr22:21931758..21934175-chr22:21978835..21981370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185651	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000273342	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1034329	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089620	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11089629	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11089637	0.94[ASN][1000 genomes]
rs12158299	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12168958	0.81[AMR][1000 genomes]
rs12169001	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12484550	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs131656	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs131658	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131659	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131660	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131664	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131665	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140489	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140490	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140491	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140492	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140496	0.95[ASN][1000 genomes]
rs140498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140499	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811069	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs181359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181361	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs181363	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070512	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256609	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2266959	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2266961	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2266963	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2266964	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283789	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283790	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298428	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2298429	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2876971	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747093	0.91[ASN][1000 genomes]
rs4821104	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4821108	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821112	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821114	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4821116	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4821124	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4821130	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749485	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749493	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749495	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749502	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754100	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5754166	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5754177	0.86[AMR][1000 genomes]
rs5754217	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754234	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754238	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754295	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754323	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754344	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5754352	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754422	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754426	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754467	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59391722	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994638	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998509	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5998576	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5998599	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5998619	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998644	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998672	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66534072	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710177	0.89[ASN][1000 genomes]
rs73166619	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73166622	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73166630	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73166632	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738127	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738128	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7444	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7445	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8137950	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8139079	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861857	0.88[ASN][1000 genomes]
rs878825	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9619386	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621715	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1815888	chr22:21486890-21947822	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
11	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
13	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
15	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
16	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs181366	CCDC116	cis	lung	GTEx
rs181366	CCDC116	cis	Artery Tibial	GTEx
rs181366	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL
rs181366	UBE2L3	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21924000-21934000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:21924400-21941800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:21924400-21947400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:21924800-21942000	Weak transcription	Fetal Brain Male	brain
5	chr22:21925000-21941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:21925600-21937400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:21925600-21946800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:21925800-21946800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:21926200-21937200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr22:21927800-21937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:21927800-21937400	Weak transcription	Thymus	Thymus
12	chr22:21927800-21937800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:21927800-21941800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:21927800-21941800	Weak transcription	Fetal Brain Female	brain
15	chr22:21927800-21942000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:21928000-21933800	Weak transcription	Brain Angular Gyrus	brain
17	chr22:21928000-21937000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:21928000-21939200	Weak transcription	Primary B cells from cord blood	blood
19	chr22:21928000-21941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:21928000-21942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:21928200-21936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:21928200-21937200	Weak transcription	Aorta	Aorta
23	chr22:21928200-21941800	Weak transcription	HSMM	muscle
24	chr22:21928200-21943600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr22:21928600-21937200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr22:21928600-21937400	Weak transcription	Fetal Stomach	stomach
27	chr22:21928800-21934000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:21928800-21936000	Weak transcription	Fetal Lung	lung
29	chr22:21928800-21936600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:21928800-21937000	Weak transcription	Primary T cells from cord blood	blood
31	chr22:21928800-21945600	Weak transcription	Brain Germinal Matrix	brain
32	chr22:21929000-21934000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:21929000-21937000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:21929000-21939400	Weak transcription	Osteobl	bone
35	chr22:21929000-21941800	Weak transcription	NH-A	brain
36	chr22:21929000-21941800	Weak transcription	NHLF	lung
37	chr22:21929000-21942000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:21929000-21943800	Weak transcription	Hela-S3	cervix
39	chr22:21929000-21945000	Weak transcription	HMEC	breast
40	chr22:21929000-21947000	Weak transcription	HUVEC	blood vessel
41	chr22:21929200-21942000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:21930400-21934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:21930800-21937200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:21931400-21934400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:21931400-21934800	Enhancers	Pancreas	Pancrea
46	chr22:21931600-21934000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:21931600-21934400	Genic enhancers	Fetal Intestine Small	intestine
48	chr22:21931600-21934400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:21931600-21934600	Enhancers	Placenta	Placenta
50	chr22:21931600-21934800	Enhancers	Adipose Nuclei	Adipose

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