Variant report

Variant	rs72952411
Chromosome Location	chr3:112062920-112062921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10804500	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10934166	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10934167	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10934169	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10934170	0.86[EUR][1000 genomes]
rs11708769	0.86[EUR][1000 genomes]
rs11710561	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11712036	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11719721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11917566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11917581	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12629421	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12630238	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12630278	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12633029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12634619	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12635015	0.86[EUR][1000 genomes]
rs12635872	0.92[EUR][1000 genomes]
rs12639474	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16859469	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16859507	0.86[EUR][1000 genomes]
rs1814987	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1879511	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1906520	0.81[EUR][1000 genomes]
rs2895395	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2895396	0.86[EUR][1000 genomes]
rs4355253	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4355254	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57025230	0.95[EUR][1000 genomes]
rs57661530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58425909	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59202208	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59744939	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60204227	0.81[EUR][1000 genomes]
rs62264124	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278831	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278832	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278833	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278834	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278835	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278836	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278837	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278838	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278839	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278841	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62278842	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278844	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278846	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278847	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62278848	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278849	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278850	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278853	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278854	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62278855	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62278856	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6764384	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6787841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6788309	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6789161	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6801708	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6801739	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72950242	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72950273	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72952437	0.86[EUR][1000 genomes]
rs72952454	0.81[EUR][1000 genomes]
rs72952463	0.81[EUR][1000 genomes]
rs7639471	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7653490	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs869042	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9834347	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9863371	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9867245	0.86[EUR][1000 genomes]
rs9868582	0.86[ASN][1000 genomes]
rs9990215	0.92[ASN][1000 genomes]
rs9990216	0.92[ASN][1000 genomes]
rs9990220	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112052600-112066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:112052800-112076200	Weak transcription	Right Ventricle	heart
3	chr3:112053200-112066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:112053200-112076400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:112053800-112063800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:112053800-112064200	Weak transcription	Fetal Intestine Large	intestine
7	chr3:112054000-112065800	Weak transcription	Fetal Kidney	kidney
8	chr3:112054000-112068600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:112054200-112063800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:112054200-112064000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:112054800-112063400	Weak transcription	Ovary	ovary
12	chr3:112054800-112063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:112054800-112066400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:112054800-112076800	Weak transcription	Lung	lung
15	chr3:112054800-112083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:112055000-112063400	Weak transcription	Brain Germinal Matrix	brain
17	chr3:112055200-112068800	Weak transcription	Fetal Intestine Small	intestine
18	chr3:112055400-112063800	Weak transcription	Fetal Stomach	stomach
19	chr3:112055600-112080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:112055800-112076400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:112056000-112063800	Weak transcription	Thymus	Thymus
22	chr3:112056200-112065400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:112056400-112064000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:112056600-112064600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:112056600-112076400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:112057600-112063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:112057800-112063200	Weak transcription	Fetal Brain Male	brain
28	chr3:112057800-112067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:112057800-112068800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:112058600-112067400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:112058800-112063000	Weak transcription	Brain Anterior Caudate	brain
32	chr3:112058800-112063200	Weak transcription	Adipose Nuclei	Adipose
33	chr3:112058800-112063200	Weak transcription	Aorta	Aorta
34	chr3:112058800-112063200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:112058800-112063400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:112058800-112063400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:112058800-112063800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:112058800-112064000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:112058800-112069800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:112059000-112066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:112059200-112069000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr3:112059600-112066600	Weak transcription	Brain Substantia Nigra	brain
43	chr3:112059600-112075000	Strong transcription	Fetal Thymus	thymus
44	chr3:112059800-112065600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:112060000-112063200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:112060000-112063400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:112060200-112063800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:112060200-112064200	Weak transcription	Placenta	Placenta
49	chr3:112060600-112063200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr3:112060800-112063200	Weak transcription	Fetal Brain Female	brain

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