Variant report

Variant	rs72961730
Chromosome Location	chr3:52986622-52986623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs34397833	1.00[AMR][1000 genomes]
rs35981653	1.00[AMR][1000 genomes]
rs56665986	0.90[AFR][1000 genomes]
rs56835905	0.85[AFR][1000 genomes]
rs56895623	0.92[AFR][1000 genomes]
rs57273027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57465047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57561909	0.87[AFR][1000 genomes]
rs57640885	1.00[AMR][1000 genomes]
rs57654423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58249114	0.92[AFR][1000 genomes]
rs58888768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59224641	0.90[AFR][1000 genomes]
rs59838592	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60207422	1.00[AMR][1000 genomes]
rs60648378	0.90[AFR][1000 genomes]
rs60805548	1.00[AMR][1000 genomes]
rs61324750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61331336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61437303	0.85[AFR][1000 genomes]
rs61438885	0.85[AFR][1000 genomes]
rs6776862	1.00[AMR][1000 genomes]
rs6798309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6798669	0.92[AFR][1000 genomes]
rs72954390	1.00[AMR][1000 genomes]
rs72954402	1.00[AMR][1000 genomes]
rs72959475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959482	0.92[AFR][1000 genomes]
rs72959487	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959499	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961704	0.92[AFR][1000 genomes]
rs72961705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961708	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961711	1.00[AMR][1000 genomes]
rs72961724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965340	0.92[AFR][1000 genomes]
rs72965348	0.92[AFR][1000 genomes]
rs72965358	0.92[AFR][1000 genomes]
rs72965359	0.92[AFR][1000 genomes]
rs72965366	0.85[AFR][1000 genomes]
rs72965370	0.90[AFR][1000 genomes]
rs72965381	0.89[AFR][1000 genomes]
rs7618417	0.92[AFR][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	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52961600-52987000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:52962400-52998200	Weak transcription	Lung	lung
5	chr3:52962400-53001600	Weak transcription	Brain Angular Gyrus	brain
6	chr3:52962400-53007000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:52964200-52995400	Weak transcription	Gastric	stomach
9	chr3:52964400-52988200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:52965000-52986800	Weak transcription	Thymus	Thymus
12	chr3:52965000-52998400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
14	chr3:52965600-53008200	Weak transcription	GM12878-XiMat	blood
15	chr3:52966400-53001600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:52969000-53008000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:52969200-52991000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:52969200-52996200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:52969200-52997400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:52975000-53008000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:52975200-53000600	Weak transcription	Hela-S3	cervix
22	chr3:52977000-52987000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:52980400-52996600	Weak transcription	Psoas Muscle	Psoas
25	chr3:52980800-52990000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:52983600-52988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:52984000-52998800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:52984400-52988200	Strong transcription	Fetal Stomach	stomach
29	chr3:52984400-53006000	Weak transcription	Fetal Heart	heart
30	chr3:52984600-53003000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:52985000-52988000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:52985200-52988400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:52985600-52987400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:52985800-52987000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:52985800-52987600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:52985800-52987600	Strong transcription	Fetal Intestine Large	intestine
37	chr3:52986000-52986800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:52986000-52986800	Strong transcription	Liver	Liver
39	chr3:52986000-52986800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:52986000-52987000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:52986000-52987800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:52986000-52987800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:52986000-52987800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:52986000-52988000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:52986000-52988200	Strong transcription	Dnd41	blood
46	chr3:52986200-52987600	Strong transcription	Placenta	Placenta
47	chr3:52986200-52987800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:52986200-52993800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:52986400-52986800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:52986400-52986800	Strong transcription	Duodenum Mucosa	Duodenum

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