Variant report

Variant	rs72823788
Chromosome Location	chr2:99213080-99213081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10199199	0.82[EUR][1000 genomes]
rs10496327	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10514774	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1139829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11537554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11884553	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11888595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11892744	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11896729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901568	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11902825	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052639	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12617721	0.88[EUR][1000 genomes]
rs12618524	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619665	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12622341	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13402379	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1516085	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1587835	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031139	0.83[EUR][1000 genomes]
rs17031146	0.83[EUR][1000 genomes]
rs17031905	0.87[EUR][1000 genomes]
rs17032120	0.88[EUR][1000 genomes]
rs17032866	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033136	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17033813	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034171	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034241	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17444095	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17446058	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17502889	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504774	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17505088	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17505326	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17506535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17513468	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1847550	0.84[EUR][1000 genomes]
rs2230388	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278206	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278207	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278208	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278212	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278213	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278214	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2309390	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3203856	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34906456	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3729568	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754871	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754872	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754875	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754877	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754878	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754879	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754880	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754881	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754883	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754884	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754885	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754886	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754888	0.88[EUR][1000 genomes]
rs3754889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3754890	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3754891	0.88[EUR][1000 genomes]
rs3754893	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3769698	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3769701	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769708	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769709	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769712	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769713	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769715	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769716	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769717	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769719	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769723	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769724	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769725	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769726	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769727	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769728	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769729	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769730	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769733	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769734	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769735	0.91[EUR][1000 genomes]
rs3769736	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769737	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769738	0.88[EUR][1000 genomes]
rs3769740	0.87[EUR][1000 genomes]
rs3769741	0.87[EUR][1000 genomes]
rs3769743	0.87[EUR][1000 genomes]
rs3820941	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820943	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3820945	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4596026	0.88[EUR][1000 genomes]
rs4599165	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4850874	0.87[EUR][1000 genomes]
rs4850875	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4850876	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4850877	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4850878	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4850879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851131	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4851136	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4851140	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4851141	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851142	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851144	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851145	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55900716	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55934321	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56091613	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56118505	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56141907	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56197140	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56232707	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56240302	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56333112	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56357378	0.83[EUR][1000 genomes]
rs58778964	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61180742	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6728891	0.83[EUR][1000 genomes]
rs6736755	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753380	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753515	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72819965	0.83[EUR][1000 genomes]
rs72819970	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819971	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819972	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819981	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819996	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72820002	0.87[EUR][1000 genomes]
rs72821904	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72821907	0.89[EUR][1000 genomes]
rs72821908	0.88[EUR][1000 genomes]
rs72821920	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821924	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821930	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821939	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821943	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821951	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821955	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72821956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72821965	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823792	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823794	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823796	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823801	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7562232	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7585747	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7585939	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7588254	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs961242	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99163000-99215000	Weak transcription	HMEC	breast
2	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:99177400-99216200	Weak transcription	NH-A	brain
4	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
5	chr2:99181600-99215600	Weak transcription	Small Intestine	intestine
6	chr2:99186800-99215600	Weak transcription	NHEK	skin
7	chr2:99187200-99216600	Weak transcription	NHLF	lung
8	chr2:99194000-99216200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
10	chr2:99195200-99214800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:99195400-99216200	Weak transcription	Osteobl	bone
12	chr2:99199400-99214800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:99199600-99214800	Weak transcription	K562	blood
14	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:99200400-99214000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:99200400-99216400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:99200600-99214000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:99200800-99213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:99200800-99213800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:99200800-99214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:99200800-99216200	Weak transcription	Fetal Kidney	kidney
22	chr2:99201000-99214000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:99201000-99214800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:99201200-99213200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:99201200-99217800	Weak transcription	Esophagus	oesophagus
26	chr2:99201600-99214000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:99201800-99213400	Weak transcription	HepG2	liver
28	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
29	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:99203400-99216200	Weak transcription	Ovary	ovary
31	chr2:99203400-99216400	Weak transcription	Aorta	Aorta
32	chr2:99203800-99214000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:99205600-99214000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:99206200-99216000	Weak transcription	Right Ventricle	heart
35	chr2:99207200-99213800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:99207200-99215400	Weak transcription	HSMMtube	muscle
37	chr2:99207200-99216200	Weak transcription	Gastric	stomach
38	chr2:99207400-99214000	Weak transcription	Hela-S3	cervix
39	chr2:99207400-99215600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:99208200-99214600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:99208200-99214800	Weak transcription	HUVEC	blood vessel
42	chr2:99208200-99215000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:99208200-99215400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:99208400-99213800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:99208400-99214000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:99208400-99214000	Weak transcription	Left Ventricle	heart
47	chr2:99208400-99215200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:99208400-99216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:99208600-99215200	Weak transcription	Brain Anterior Caudate	brain
50	chr2:99208800-99213200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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