Variant report

Variant	rs10771549
Chromosome Location	chr12:29696884-29696885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10400534	0.82[ASN][1000 genomes]
rs10400541	0.85[ASN][1000 genomes]
rs10771545	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771547	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843443	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843446	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050270	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050271	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050273	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050278	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050280	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050281	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050284	0.83[ASN][1000 genomes]
rs11050288	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050291	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050292	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050293	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050295	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050296	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050297	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050298	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050299	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050300	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050301	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050302	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611194	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371221	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581671	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810291	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12820673	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1326758	0.83[ASN][1000 genomes]
rs159696	0.85[ASN][1000 genomes]
rs159701	0.84[ASN][1000 genomes]
rs159703	0.83[ASN][1000 genomes]
rs159704	0.83[ASN][1000 genomes]
rs159705	0.83[ASN][1000 genomes]
rs1988548	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2060569	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113879	0.82[EUR][1000 genomes]
rs2113880	0.82[EUR][1000 genomes]
rs2288131	0.91[ASN][1000 genomes]
rs2288132	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288133	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288230	0.82[EUR][1000 genomes]
rs2350532	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs299444	0.87[ASN][1000 genomes]
rs299445	0.87[ASN][1000 genomes]
rs299455	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299456	0.93[ASN][1000 genomes]
rs299457	0.93[ASN][1000 genomes]
rs299459	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs299462	0.91[EUR][1000 genomes]
rs299463	0.91[EUR][1000 genomes]
rs299464	0.91[EUR][1000 genomes]
rs299465	0.91[EUR][1000 genomes]
rs299466	0.91[EUR][1000 genomes]
rs299472	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs299475	0.87[EUR][1000 genomes]
rs34020170	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34187264	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34555972	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35111056	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35536095	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35741143	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs375109	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931201	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931204	0.83[ASN][1000 genomes]
rs60500145	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487837	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7294502	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7301491	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306397	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310555	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310895	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7314549	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971202	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300191	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9300192	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9738399	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv983497	chr12:29696128-29702801	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
2	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
8	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart
9	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:29682200-29697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:29688200-29699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29689400-29700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:29691200-29698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:29691200-29709200	Weak transcription	HMEC	breast
17	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
18	chr12:29695400-29697400	Enhancers	Fetal Stomach	stomach
19	chr12:29695600-29697000	Enhancers	Fetal Brain Male	brain
20	chr12:29695800-29697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:29695800-29697200	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:29695800-29698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:29695800-29699000	Weak transcription	Psoas Muscle	Psoas
24	chr12:29696400-29697200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:29696400-29698800	Weak transcription	Ovary	ovary
26	chr12:29696400-29706000	Weak transcription	Aorta	Aorta
27	chr12:29696600-29698000	Enhancers	NHLF	lung
28	chr12:29696600-29698800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:29696600-29699000	Weak transcription	Right Atrium	heart
30	chr12:29696600-29699000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:29696600-29699200	Weak transcription	HSMMtube	muscle
32	chr12:29696600-29700000	Weak transcription	Adipose Nuclei	Adipose
33	chr12:29696600-29705600	Weak transcription	Osteobl	bone
34	chr12:29696800-29697000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:29696800-29697200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:29696800-29698600	Weak transcription	NHDF-Ad	bronchial
37	chr12:29696800-29698800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:29696800-29699000	Weak transcription	HSMM	muscle
39	chr12:29696800-29699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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