Variant report

Variant	rs4952249
Chromosome Location	chr2:32343673-32343674
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10490360	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11124274	0.82[ASN][1000 genomes]
rs11124275	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11124276	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11124277	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676938	0.83[ASN][1000 genomes]
rs11678119	0.83[ASN][1000 genomes]
rs11681731	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11683760	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11683842	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11683931	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11686061	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11689817	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11694630	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12465124	0.95[ASN][1000 genomes]
rs12474443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12611678	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12614686	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12617289	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617290	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618002	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12620922	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12989936	0.81[ASN][1000 genomes]
rs12992743	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12995952	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13000753	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13007972	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13008192	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13017189	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13022197	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13024004	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13029752	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13033833	0.81[AFR][1000 genomes]
rs13431540	0.88[ASN][1000 genomes]
rs17767988	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212678	0.84[EUR][1000 genomes]
rs212679	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212695	0.83[EUR][1000 genomes]
rs212700	0.81[EUR][1000 genomes]
rs212715	0.86[EUR][1000 genomes]
rs212716	0.86[EUR][1000 genomes]
rs212717	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs212718	0.85[EUR][1000 genomes]
rs212724	0.81[EUR][1000 genomes]
rs212725	0.81[EUR][1000 genomes]
rs212726	0.81[EUR][1000 genomes]
rs212727	0.81[EUR][1000 genomes]
rs212728	0.81[EUR][1000 genomes]
rs212730	0.81[EUR][1000 genomes]
rs212731	0.81[EUR][1000 genomes]
rs212733	0.82[EUR][1000 genomes]
rs212735	0.81[EUR][1000 genomes]
rs212737	0.81[EUR][1000 genomes]
rs212739	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212745	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212746	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212760	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs216544	0.86[ASN][1000 genomes]
rs2235134	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280967	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280969	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2280973	0.81[ASN][1000 genomes]
rs2294176	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2294179	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2365555	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2365558	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2566483	0.83[EUR][1000 genomes]
rs2886393	0.84[ASN][1000 genomes]
rs34856365	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34976640	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs35641550	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35650265	0.80[ASN][1000 genomes]
rs36014814	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374743	0.81[EUR][1000 genomes]
rs3752916	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3752917	0.93[ASN][1000 genomes]
rs3769603	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3769604	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769606	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3851308	0.93[ASN][1000 genomes]
rs3851310	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs408813	0.84[EUR][1000 genomes]
rs428002	0.82[EUR][1000 genomes]
rs443609	0.83[EUR][1000 genomes]
rs455060	0.81[EUR][1000 genomes]
rs466126	0.87[EUR][1000 genomes]
rs467523	0.82[ASN][1000 genomes]
rs4952247	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4952250	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56208031	0.95[ASN][1000 genomes]
rs56740303	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59966205	0.84[EUR][1000 genomes]
rs6543647	0.80[ASN][1000 genomes]
rs6543649	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs659239	0.83[EUR][1000 genomes]
rs67157050	0.83[ASN][1000 genomes]
rs6723154	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6725184	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6737500	0.81[ASN][1000 genomes]
rs6738349	0.90[EUR][1000 genomes]
rs6747488	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748621	0.81[ASN][1000 genomes]
rs6749336	0.81[ASN][1000 genomes]
rs6758024	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6760105	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6761417	0.95[ASN][1000 genomes]
rs72862234	0.83[ASN][1000 genomes]
rs7559964	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7561519	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7566162	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7572964	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7573543	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7575139	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7577408	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7577696	0.83[ASN][1000 genomes]
rs7581032	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7581340	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586448	0.81[ASN][1000 genomes]
rs7592239	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7592356	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7600173	0.80[ASN][1000 genomes]
rs7600885	0.82[ASN][1000 genomes]
rs7601267	0.83[ASN][1000 genomes]
rs7604289	0.85[AFR][1000 genomes]
rs7604559	0.82[ASN][1000 genomes]
rs7605242	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7608127	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7608229	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9677104	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9750659	0.84[ASN][1000 genomes]
rs9752631	0.88[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:112 , 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	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
4	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:32297600-32360600	Weak transcription	Osteobl	bone
6	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
7	chr2:32313200-32360600	Weak transcription	NH-A	brain
8	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:32322200-32353400	Weak transcription	K562	blood
10	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:32326000-32352200	Weak transcription	HSMMtube	muscle
12	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
14	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
15	chr2:32331600-32344000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
21	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
22	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:32331600-32390200	Weak transcription	Gastric	stomach
24	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
25	chr2:32331800-32343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:32331800-32344000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:32331800-32350400	Weak transcription	Lung	lung
28	chr2:32331800-32351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:32331800-32353400	Weak transcription	Fetal Kidney	kidney
30	chr2:32331800-32353600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:32331800-32360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:32332000-32353800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:32332200-32361400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:32332200-32362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:32332400-32350400	Weak transcription	Left Ventricle	heart
37	chr2:32332800-32350600	Weak transcription	Ovary	ovary
38	chr2:32332800-32352400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:32333000-32350600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:32333000-32353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:32333000-32358200	Weak transcription	A549	lung
43	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:32333200-32344000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:32333200-32353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:32333400-32352400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:32333600-32353000	Weak transcription	Fetal Lung	lung
49	chr2:32334000-32348800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:32334200-32348800	Weak transcription	Dnd41	blood

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