Variant report

Variant	rs7559964
Chromosome Location	chr2:32333866-32333867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10490360	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11124274	0.82[ASN][1000 genomes]
rs11124275	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11124276	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11124277	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676938	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11681731	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11683931	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686061	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11691879	0.81[EUR][1000 genomes]
rs12465124	0.89[ASN][1000 genomes]
rs12474443	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12611678	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12614686	0.80[ASN][1000 genomes]
rs12617289	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12617290	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12618002	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12620922	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1265341	0.80[EUR][1000 genomes]
rs12989936	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12992743	0.83[ASN][1000 genomes]
rs13000753	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13007972	0.86[ASN][1000 genomes]
rs13008192	0.87[ASN][1000 genomes]
rs13017189	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13022197	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024004	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13029752	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033833	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13431540	0.91[ASN][1000 genomes]
rs17767988	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212678	0.85[EUR][1000 genomes]
rs212679	0.89[EUR][1000 genomes]
rs212695	0.84[EUR][1000 genomes]
rs212698	0.80[EUR][1000 genomes]
rs212699	0.80[EUR][1000 genomes]
rs212701	0.80[EUR][1000 genomes]
rs212715	0.89[EUR][1000 genomes]
rs212716	0.89[EUR][1000 genomes]
rs212717	0.89[EUR][1000 genomes]
rs212718	0.88[EUR][1000 genomes]
rs212723	0.81[EUR][1000 genomes]
rs212724	0.83[EUR][1000 genomes]
rs212725	0.83[EUR][1000 genomes]
rs212726	0.83[EUR][1000 genomes]
rs212727	0.83[EUR][1000 genomes]
rs212728	0.83[EUR][1000 genomes]
rs212730	0.83[EUR][1000 genomes]
rs212731	0.83[EUR][1000 genomes]
rs212733	0.80[EUR][1000 genomes]
rs212735	0.83[EUR][1000 genomes]
rs212737	0.83[EUR][1000 genomes]
rs212739	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212745	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212746	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212760	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs216544	0.89[ASN][1000 genomes]
rs2235134	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280967	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2280969	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2294176	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2294179	0.87[ASN][1000 genomes]
rs2365555	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2365558	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2566483	0.86[EUR][1000 genomes]
rs34856365	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35650265	0.81[EUR][1000 genomes]
rs36014814	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs374743	0.84[EUR][1000 genomes]
rs3752916	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3752917	0.84[ASN][1000 genomes]
rs3769603	0.83[ASN][1000 genomes]
rs3769604	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769606	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3851308	0.84[ASN][1000 genomes]
rs408813	0.86[EUR][1000 genomes]
rs428002	0.85[EUR][1000 genomes]
rs435572	0.82[EUR][1000 genomes]
rs443609	0.85[EUR][1000 genomes]
rs455060	0.83[EUR][1000 genomes]
rs466126	0.85[EUR][1000 genomes]
rs467523	0.84[ASN][1000 genomes]
rs469305	0.82[EUR][1000 genomes]
rs494569	0.80[EUR][1000 genomes]
rs4952247	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952249	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952250	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56208031	0.85[ASN][1000 genomes]
rs56740303	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59966205	0.86[EUR][1000 genomes]
rs6543649	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs659239	0.86[EUR][1000 genomes]
rs67157050	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6725184	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6738349	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6747488	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748621	0.80[ASN][1000 genomes]
rs6749336	0.80[EUR][1000 genomes]
rs6758024	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6760105	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761417	0.85[ASN][1000 genomes]
rs678251	0.82[ASN][1000 genomes]
rs72862234	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7561519	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7566162	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573543	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7575139	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7577408	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7577696	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7581032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7581340	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586448	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7600173	0.80[EUR][1000 genomes]
rs7600885	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7601267	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7604559	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7605242	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608127	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7608229	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9677104	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9750659	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9752631	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
5	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:32297600-32360600	Weak transcription	Osteobl	bone
7	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
8	chr2:32300000-32339600	Weak transcription	HepG2	liver
9	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
10	chr2:32313200-32360600	Weak transcription	NH-A	brain
11	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:32316200-32343200	Weak transcription	HSMM	muscle
13	chr2:32322200-32353400	Weak transcription	K562	blood
14	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:32326000-32352200	Weak transcription	HSMMtube	muscle
16	chr2:32330200-32334000	Strong transcription	Fetal Thymus	thymus
17	chr2:32330400-32334000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32330800-32334400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr2:32330800-32334400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:32331200-32341000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:32331400-32341200	Weak transcription	Stomach Mucosa	stomach
23	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
24	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
25	chr2:32331600-32334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:32331600-32334200	Strong transcription	Fetal Intestine Large	intestine
27	chr2:32331600-32334200	Strong transcription	Dnd41	blood
28	chr2:32331600-32338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:32331600-32341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:32331600-32341600	Weak transcription	Aorta	Aorta
31	chr2:32331600-32341600	Weak transcription	Esophagus	oesophagus
32	chr2:32331600-32343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:32331600-32343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:32331600-32344000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
40	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
41	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:32331600-32390200	Weak transcription	Gastric	stomach
43	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
44	chr2:32331800-32334200	Strong transcription	Brain Germinal Matrix	brain
45	chr2:32331800-32336000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:32331800-32337200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:32331800-32338800	Weak transcription	Thymus	Thymus
48	chr2:32331800-32340800	Weak transcription	Placenta	Placenta
49	chr2:32331800-32341600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:32331800-32343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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