Variant report

Variant	rs2122087
Chromosome Location	chr2:187322845-187322846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10172850	0.85[ASN][1000 genomes]
rs10804004	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931245	0.85[ASN][1000 genomes]
rs11673938	0.85[ASN][1000 genomes]
rs12467891	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469301	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12470370	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12473076	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12476313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12478370	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12612249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614800	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12615675	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12623611	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993773	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12998229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999247	0.99[ASN][1000 genomes]
rs12999438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13009502	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13011581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015996	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13016181	0.83[ASN][1000 genomes]
rs13016273	0.89[AFR][1000 genomes]
rs13017038	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018154	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13018467	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023992	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13024310	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13025505	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029473	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13029766	0.96[ASN][1000 genomes]
rs13029818	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029980	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13030324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13421394	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1375326	0.85[ASN][1000 genomes]
rs1448856	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1448858	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1451874	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470230	0.85[ASN][1000 genomes]
rs1975594	0.88[ASN][1000 genomes]
rs2044919	0.85[ASN][1000 genomes]
rs2084485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084486	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119865	0.83[ASN][1000 genomes]
rs2305409	0.85[ASN][1000 genomes]
rs3768775	0.85[ASN][1000 genomes]
rs3768776	0.85[ASN][1000 genomes]
rs4144785	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144786	0.85[ASN][1000 genomes]
rs4144822	0.85[ASN][1000 genomes]
rs4271735	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4341896	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4363995	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4430906	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4569437	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4608482	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4666703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4666704	0.85[ASN][1000 genomes]
rs4666705	0.85[ASN][1000 genomes]
rs4667090	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667093	0.84[ASN][1000 genomes]
rs4667094	0.84[ASN][1000 genomes]
rs4667095	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667097	0.88[ASN][1000 genomes]
rs4667098	0.87[ASN][1000 genomes]
rs4667099	0.87[ASN][1000 genomes]
rs4667100	0.85[ASN][1000 genomes]
rs4667101	0.85[ASN][1000 genomes]
rs4667102	0.85[ASN][1000 genomes]
rs4667103	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56347348	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434181	0.86[ASN][1000 genomes]
rs6434182	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434183	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434184	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704957	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6712627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6715735	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6717081	0.88[ASN][1000 genomes]
rs6732188	0.88[ASN][1000 genomes]
rs6732449	0.87[ASN][1000 genomes]
rs6734700	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6740632	0.85[ASN][1000 genomes]
rs6741184	0.85[ASN][1000 genomes]
rs6747289	0.87[ASN][1000 genomes]
rs6749314	0.86[ASN][1000 genomes]
rs6754179	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7556814	0.88[ASN][1000 genomes]
rs7562659	0.87[ASN][1000 genomes]
rs7570883	0.87[ASN][1000 genomes]
rs7573296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576323	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7579391	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7580038	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7581081	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586276	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7587410	0.86[ASN][1000 genomes]
rs7593093	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595269	0.88[ASN][1000 genomes]
rs7597285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs988110	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001927	chr2:187264940-187325667	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997835	chr2:187265730-187327561	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv536081	chr2:187265730-187327561	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187297800-187331200	Weak transcription	Left Ventricle	heart
2	chr2:187302200-187323200	Weak transcription	Ovary	ovary
3	chr2:187303800-187323000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:187308000-187323800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:187308800-187323000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:187313600-187327000	Weak transcription	Pancreas	Pancrea
7	chr2:187315600-187330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:187317000-187323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:187317800-187323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:187318200-187323200	Weak transcription	Fetal Kidney	kidney
11	chr2:187319600-187323000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:187319800-187323000	Weak transcription	HSMM	muscle
13	chr2:187320600-187323000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:187320600-187347400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:187320800-187325200	Weak transcription	Liver	Liver
16	chr2:187321000-187323000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:187321200-187323000	Enhancers	HMEC	breast
18	chr2:187321200-187328800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:187321400-187323000	Enhancers	NH-A	brain
20	chr2:187321400-187325200	Weak transcription	HepG2	liver
21	chr2:187321600-187323400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:187322600-187323400	Enhancers	Dnd41	blood
23	chr2:187322600-187345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:187322800-187323000	Enhancers	Psoas Muscle	Psoas
25	chr2:187322800-187323000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:187322800-187323200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:187322800-187323200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:187322800-187323200	Enhancers	Fetal Intestine Large	intestine
29	chr2:187322800-187323200	Enhancers	Fetal Intestine Small	intestine

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