Variant report

Variant	rs72960281
Chromosome Location	chr3:52802871-52802872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:

Variant related genes	Relation type
ENSG00000162267	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10510759	0.85[AMR][1000 genomes]
rs11510435	1.00[EUR][1000 genomes]
rs12107484	1.00[EUR][1000 genomes]
rs17052357	1.00[EUR][1000 genomes]
rs17052404	1.00[EUR][1000 genomes]
rs1987234	0.85[AMR][1000 genomes]
rs34173244	1.00[EUR][1000 genomes]
rs35920544	0.85[AMR][1000 genomes]
rs4532127	1.00[EUR][1000 genomes]
rs56134416	1.00[EUR][1000 genomes]
rs56156188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56259931	0.85[AMR][1000 genomes]
rs56276589	1.00[EUR][1000 genomes]
rs56665533	1.00[EUR][1000 genomes]
rs57008939	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57246324	0.85[AMR][1000 genomes]
rs57298447	1.00[EUR][1000 genomes]
rs57319306	0.85[AMR][1000 genomes]
rs57560655	0.85[AMR][1000 genomes]
rs57757646	1.00[EUR][1000 genomes]
rs57789542	1.00[EUR][1000 genomes]
rs57869735	1.00[EUR][1000 genomes]
rs57946083	1.00[EUR][1000 genomes]
rs58100002	0.85[AMR][1000 genomes]
rs58409398	1.00[EUR][1000 genomes]
rs58528592	1.00[EUR][1000 genomes]
rs58564212	1.00[EUR][1000 genomes]
rs58725214	0.85[AMR][1000 genomes]
rs59638016	1.00[EUR][1000 genomes]
rs59869286	1.00[EUR][1000 genomes]
rs60040519	1.00[EUR][1000 genomes]
rs60058353	1.00[EUR][1000 genomes]
rs60256157	1.00[EUR][1000 genomes]
rs60311166	1.00[EUR][1000 genomes]
rs60415551	0.85[AMR][1000 genomes]
rs60770874	1.00[EUR][1000 genomes]
rs60823713	0.85[AMR][1000 genomes]
rs60830326	1.00[EUR][1000 genomes]
rs60916588	0.85[AMR][1000 genomes]
rs61220667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61538294	1.00[EUR][1000 genomes]
rs6445536	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762788	1.00[EUR][1000 genomes]
rs6769720	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780005	0.87[EUR][1000 genomes]
rs6780397	1.00[EUR][1000 genomes]
rs72947580	0.85[AMR][1000 genomes]
rs72947589	0.85[AMR][1000 genomes]
rs72950424	1.00[EUR][1000 genomes]
rs72950430	0.85[AMR][1000 genomes]
rs72950432	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950437	1.00[EUR][1000 genomes]
rs72960212	1.00[EUR][1000 genomes]
rs72960237	1.00[EUR][1000 genomes]
rs72960240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960260	1.00[EUR][1000 genomes]
rs72960274	1.00[EUR][1000 genomes]
rs72960285	1.00[EUR][1000 genomes]
rs72965177	1.00[EUR][1000 genomes]
rs72965181	1.00[EUR][1000 genomes]
rs73839126	1.00[EUR][1000 genomes]
rs73839129	1.00[EUR][1000 genomes]
rs7619643	1.00[AMR][1000 genomes]
rs7645785	1.00[EUR][1000 genomes]
rs764636	1.00[EUR][1000 genomes]
rs7647992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648016	0.85[AMR][1000 genomes]
rs934839	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
2	chr3:52767600-52803400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:52768000-52803600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52768800-52803000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:52774000-52803400	Weak transcription	K562	blood
6	chr3:52783200-52803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:52784800-52804000	Weak transcription	Aorta	Aorta
8	chr3:52786200-52803600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:52786400-52803600	Weak transcription	Stomach Mucosa	stomach
10	chr3:52786400-52803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:52787600-52803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:52787600-52803600	Weak transcription	Colonic Mucosa	Colon
13	chr3:52787800-52803600	Weak transcription	Gastric	stomach
14	chr3:52787800-52804000	Weak transcription	Right Ventricle	heart
15	chr3:52788200-52803000	Weak transcription	Pancreas	Pancrea
16	chr3:52788200-52803600	Weak transcription	Esophagus	oesophagus
17	chr3:52791000-52803200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:52791400-52804000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:52794200-52803600	Weak transcription	Ovary	ovary
20	chr3:52794200-52803600	Weak transcription	Thymus	Thymus
21	chr3:52794200-52803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:52795200-52803400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:52798000-52803400	Weak transcription	Fetal Heart	heart
24	chr3:52798000-52803600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:52798000-52804000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:52799800-52803000	Weak transcription	Fetal Brain Male	brain
27	chr3:52799800-52803400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:52800200-52803400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:52800200-52803400	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:52800200-52803600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:52800400-52803400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:52800400-52803400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:52800400-52803400	Weak transcription	Brain Angular Gyrus	brain
34	chr3:52800400-52803400	Weak transcription	Brain Germinal Matrix	brain
35	chr3:52800400-52803400	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:52800400-52803600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:52800400-52803600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:52800400-52803600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:52800400-52803600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:52800400-52803600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:52800400-52803600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:52800400-52803600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:52800400-52803600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:52800400-52803600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:52800400-52803600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:52800400-52803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:52800400-52803600	Weak transcription	Small Intestine	intestine
48	chr3:52800400-52803600	Weak transcription	A549	lung
49	chr3:52800400-52803600	Weak transcription	GM12878-XiMat	blood
50	chr3:52800400-52803600	Weak transcription	HSMMtube	muscle

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