Variant report

Variant	rs7445
Chromosome Location	chr22:21977047-21977048
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21976082..21978411-chr22:22004767..22007666,2	MCF-7	breast:
2	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
3	chr18:66741541..66744523-chr22:21976036..21977650,2	K562	blood:
4	chr22:21976812..21979275-chr22:22008557..22011391,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212102	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1034329	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089620	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089629	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11089637	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12158299	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12168958	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12169001	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12484550	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs131656	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs131658	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131659	0.80[EUR][1000 genomes]
rs131660	0.82[AMR][1000 genomes]
rs131664	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs131665	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140489	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140490	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140491	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140492	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140496	0.87[ASN][1000 genomes]
rs140498	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140499	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1811069	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs181359	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs181360	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs181361	0.88[EUR][1000 genomes]
rs181363	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs181366	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070512	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2256609	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2266959	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2266961	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2266963	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2266964	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283789	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283790	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298428	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2298429	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2876971	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747093	0.93[ASN][1000 genomes]
rs4821104	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4821108	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821112	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821114	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4821116	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4821124	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4821130	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749485	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749493	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749495	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749502	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754166	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5754177	0.82[AMR][1000 genomes]
rs5754217	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5754234	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754238	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5754295	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754323	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754344	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5754352	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754426	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754467	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59391722	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5994638	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998509	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5998576	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998599	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998619	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998644	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998672	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66534072	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710177	0.91[ASN][1000 genomes]
rs73166619	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73166622	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73166630	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73166632	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs738127	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs738128	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7444	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8137950	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8139079	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs861857	0.91[ASN][1000 genomes]
rs878825	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9619386	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9621715	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7445	CCDC116	cis	Artery Tibial	GTEx
rs7445	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL
rs7445	CCDC116	cis	lung	GTEx
rs7445	CCDC116	cis	Nerve Tibial	GTEx
rs7445	UBE2L3	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:21946400-21980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:21950000-21978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:21959000-21981200	Strong transcription	Dnd41	blood
5	chr22:21963600-21978800	Strong transcription	Fetal Thymus	thymus
6	chr22:21966400-21982800	Weak transcription	Small Intestine	intestine
7	chr22:21968200-21980600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:21968400-21977200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr22:21968600-21977600	Weak transcription	Aorta	Aorta
10	chr22:21968600-21981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:21969000-21978800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:21969000-21982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:21969000-21983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:21969200-21977800	Weak transcription	HSMMtube	muscle
15	chr22:21969200-21978200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:21969200-21981000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:21970400-21977200	Weak transcription	Hela-S3	cervix
18	chr22:21970600-21977800	Weak transcription	HMEC	breast
19	chr22:21970600-21980800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:21972200-21979400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:21972600-21978600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:21972600-21981000	Strong transcription	Primary T cells from cord blood	blood
23	chr22:21973000-21979600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:21973000-21980400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr22:21973200-21977600	Strong transcription	NHEK	skin
26	chr22:21973200-21978400	Strong transcription	HepG2	liver
27	chr22:21973600-21978800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:21973600-21982400	Strong transcription	Thymus	Thymus
29	chr22:21973800-21977200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:21973800-21978200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr22:21974000-21983400	Weak transcription	Fetal Kidney	kidney
32	chr22:21974400-21978000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:21974400-21978600	Weak transcription	Stomach Mucosa	stomach
34	chr22:21974400-21978800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr22:21974400-21980000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr22:21974400-21981000	Strong transcription	GM12878-XiMat	blood
37	chr22:21974600-21977800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:21974600-21978200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:21974600-21978400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:21974600-21978600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr22:21974600-21979400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:21974800-21977600	Enhancers	Fetal Brain Female	brain
43	chr22:21974800-21978400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:21974800-21979600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:21974800-21979600	Strong transcription	Fetal Intestine Large	intestine
46	chr22:21974800-21979800	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr22:21974800-21982400	Strong transcription	Fetal Intestine Small	intestine
48	chr22:21975000-21977800	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr22:21975200-21979600	Enhancers	Brain Substantia Nigra	brain
50	chr22:21975400-21977200	Enhancers	Primary monocytes fromperipheralblood	blood

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