Variant report

Variant	rs4108243
Chromosome Location	chr12:57779821-57779822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10783823	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876976	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876977	0.91[EUR][1000 genomes]
rs10876978	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876980	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876981	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876983	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11172165	0.85[EUR][1000 genomes]
rs11172169	0.83[ASN][1000 genomes]
rs11172170	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11172177	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172190	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172191	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172205	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172211	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172214	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11172222	0.81[ASN][1000 genomes]
rs12230111	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12369598	0.87[ASN][1000 genomes]
rs12423654	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12579911	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12582640	0.86[ASN][1000 genomes]
rs12812140	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1284252	0.83[EUR][1000 genomes]
rs1798710	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2063778	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280139	0.80[ASN][1000 genomes]
rs28504983	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35032945	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760228	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760236	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760244	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760306	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760308	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760348	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760356	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4760357	0.80[EUR][1000 genomes]
rs481196	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs491750	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs492749	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs512223	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs533975	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs537482	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs543410	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs560048	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs568793	0.85[EUR][1000 genomes]
rs575153	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581136	0.85[EUR][1000 genomes]
rs6581139	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7132367	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7133366	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7303070	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7307059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7309659	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7398058	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7980310	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9738004	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
6	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
9	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:57736600-57782400	Weak transcription	HSMM	muscle
11	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
15	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
16	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
17	chr12:57761200-57787400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:57761400-57780400	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:57761400-57783600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:57761400-57789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:57762200-57782600	Weak transcription	Hela-S3	cervix
22	chr12:57762800-57784200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:57762800-57784200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
25	chr12:57763000-57782800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
27	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
28	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:57763400-57785800	Weak transcription	Dnd41	blood
30	chr12:57763600-57783000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:57763600-57784200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:57764400-57782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:57764800-57782200	Weak transcription	Left Ventricle	heart
34	chr12:57764800-57782200	Weak transcription	NH-A	brain
35	chr12:57765200-57789200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:57765400-57780000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:57765600-57787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:57766000-57787800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:57766200-57782200	Weak transcription	Ovary	ovary
40	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
42	chr12:57766400-57783600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:57766600-57782400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:57766600-57782600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:57766600-57786200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:57766800-57782000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:57766800-57782200	Weak transcription	Osteobl	bone
48	chr12:57766800-57783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:57767000-57780600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:57767000-57782200	Weak transcription	NHLF	lung

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