Variant report

Variant	rs2266961
Chromosome Location	chr22:21928597-21928598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:21927017..21928821-chr22:21931714..21933349,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1034329	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11089620	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11089629	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11089637	0.84[CEU][hapmap]
rs12158299	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12168958	0.84[AMR][1000 genomes]
rs12169001	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12484550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131656	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs131658	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs131659	0.81[EUR][1000 genomes]
rs131660	0.84[EUR][1000 genomes]
rs131664	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs131665	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs140489	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs140490	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs140491	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs140492	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs140498	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs140499	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1811069	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs181359	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs181360	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs181361	0.89[EUR][1000 genomes]
rs181363	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs181366	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2070512	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2256609	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266959	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2266963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266964	0.85[EUR][1000 genomes]
rs2283789	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283790	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2298428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298429	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2876971	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820091	0.84[CEU][hapmap]
rs4821104	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4821108	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4821112	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4821114	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4821116	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821130	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749485	0.87[EUR][1000 genomes]
rs5749493	0.87[EUR][1000 genomes]
rs5749495	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749502	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754100	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5754102	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5754166	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754177	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754217	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs5754234	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754238	0.87[EUR][1000 genomes]
rs5754295	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5754323	0.85[EUR][1000 genomes]
rs5754344	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754352	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5754387	1.00[CEU][hapmap]
rs5754422	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5754426	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5754467	0.92[CEU][hapmap]
rs59391722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994638	0.85[EUR][1000 genomes]
rs5998509	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5998599	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998619	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998644	0.85[EUR][1000 genomes]
rs5998672	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs66534072	0.89[EUR][1000 genomes]
rs73166619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166622	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73166630	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73166632	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs738127	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs738128	0.80[EUR][1000 genomes]
rs7444	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7445	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8137950	0.81[EUR][1000 genomes]
rs8139079	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8139142	0.86[JPT][hapmap]
rs878825	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9619386	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9621715	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065383	chr22:21462233-21929649	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1825387	chr22:21609069-21932052	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv1829198	chr22:21618311-21928852	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1830853	chr22:21657204-21932252	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	esv1844701	chr22:21699366-21928852	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	esv1807804	chr22:21726851-21928852	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	nsv1060781	chr22:21815854-21929649	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2266961	UBE2L3	cis	multi-tissue	Pritchard
rs2266961	CCDC116	cis	Nerve Tibial	GTEx
rs2266961	UBE2L3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21923200-21929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr22:21923200-21929000	Enhancers	Fetal Heart	heart
3	chr22:21923200-21929800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:21923400-21928800	Enhancers	Brain Substantia Nigra	brain
5	chr22:21923400-21929000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr22:21923400-21930600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:21924000-21929000	Enhancers	Liver	Liver
8	chr22:21924000-21934000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:21924200-21929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr22:21924200-21929000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr22:21924200-21929200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:21924400-21928600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:21924400-21941800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:21924400-21947400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:21924600-21929200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:21924600-21929200	Enhancers	Fetal Intestine Large	intestine
17	chr22:21924800-21928800	Genic enhancers	Primary T cells from cord blood	blood
18	chr22:21924800-21942000	Weak transcription	Fetal Brain Male	brain
19	chr22:21925000-21941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:21925600-21937400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:21925600-21946800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:21925800-21929200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr22:21925800-21946800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:21926200-21929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:21926200-21932600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:21926200-21932800	Weak transcription	Brain Anterior Caudate	brain
27	chr22:21926200-21937200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr22:21926400-21928800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:21926600-21929000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:21926600-21929000	Enhancers	Adipose Nuclei	Adipose
31	chr22:21926600-21929000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:21926800-21928600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr22:21926800-21928600	Enhancers	Fetal Kidney	kidney
34	chr22:21926800-21929000	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr22:21926800-21929000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:21926800-21929200	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:21927000-21928800	Enhancers	Fetal Lung	lung
38	chr22:21927000-21929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:21927000-21929000	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr22:21927000-21929000	Enhancers	Right Ventricle	heart
41	chr22:21927000-21929200	Enhancers	HepG2	liver
42	chr22:21927000-21929400	Enhancers	Pancreas	Pancrea
43	chr22:21927200-21928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:21927200-21928800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:21927200-21928800	Enhancers	Ovary	ovary
46	chr22:21927200-21929000	Enhancers	Colonic Mucosa	Colon
47	chr22:21927200-21929000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr22:21927200-21929000	Enhancers	Psoas Muscle	Psoas
49	chr22:21927200-21929000	Genic enhancers	NHLF	lung
50	chr22:21927200-21929200	Genic enhancers	Fetal Intestine Small	intestine

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