Variant report

Variant	rs72920918
Chromosome Location	chr3:28958038-28958039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10510612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1500010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022076	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17022080	0.90[ASN][1000 genomes]
rs17022084	0.90[ASN][1000 genomes]
rs17022110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17022129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17022147	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17022169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17022186	0.88[ASN][1000 genomes]
rs17022195	0.93[ASN][1000 genomes]
rs1909602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1965351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2221153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4016429	0.93[ASN][1000 genomes]
rs55744505	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs57529509	0.93[ASN][1000 genomes]
rs58720305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58767158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59357000	0.93[ASN][1000 genomes]
rs59924449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60187021	0.90[ASN][1000 genomes]
rs60896865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60978369	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61579277	0.90[ASN][1000 genomes]
rs66470677	0.93[ASN][1000 genomes]
rs66504654	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs67397931	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72920904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72920911	1.00[AMR][1000 genomes]
rs72920919	0.88[ASN][1000 genomes]
rs72920921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72920923	1.00[AMR][1000 genomes]
rs72920927	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72920940	0.93[ASN][1000 genomes]
rs72920943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72920955	1.00[AMR][1000 genomes]
rs72920958	1.00[AMR][1000 genomes]
rs72920962	1.00[AMR][1000 genomes]
rs72925894	1.00[AMR][1000 genomes]
rs72927814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927837	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72927847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72927849	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7434023	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs952628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv590011	chr3:28780713-29044437	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv876653	chr3:28819123-29366164	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv876654	chr3:28882980-29105082	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv590023	chr3:28926923-29038253	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv998023	chr3:28939535-29207462	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv590024	chr3:28947691-29192092	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv590025	chr3:28947691-29201460	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28955800-28959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:28956200-28958200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:28956800-28958800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:28957000-28958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:28957200-28958200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:28957200-28958600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:28957400-28958200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:28957400-28958200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:28957400-28958200	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:28957400-28958200	Flanking Active TSS	NH-A	brain
11	chr3:28957400-28958200	Flanking Active TSS	Osteobl	bone
12	chr3:28957400-28958600	Enhancers	Primary B cells from cord blood	blood
13	chr3:28957400-28958600	Enhancers	HMEC	breast
14	chr3:28957400-28958800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr3:28957400-28958800	Active TSS	Right Atrium	heart
16	chr3:28957600-28958200	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:28957600-28958200	Active TSS	Brain Angular Gyrus	brain
18	chr3:28957600-28958200	Enhancers	Fetal Brain Female	brain
19	chr3:28957600-28958200	Flanking Active TSS	GM12878-XiMat	blood
20	chr3:28957600-28958600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:28957600-28958800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:28957600-28958800	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:28957600-28958800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr3:28957600-28958800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr3:28957600-28958800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:28957600-28958800	Active TSS	Brain Substantia Nigra	brain
27	chr3:28957600-28958800	Enhancers	Lung	lung
28	chr3:28957800-28958200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:28957800-28958200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:28957800-28958200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr3:28957800-28958200	Flanking Active TSS	HUVEC	blood vessel
32	chr3:28957800-28958400	Enhancers	Fetal Thymus	thymus
33	chr3:28957800-28958400	Active TSS	Psoas Muscle	Psoas
34	chr3:28957800-28958400	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:28957800-28958400	Weak transcription	HSMM	muscle
36	chr3:28957800-28958600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:28957800-28958600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:28957800-28958600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:28957800-28958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:28957800-28958600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:28957800-28958600	Active TSS	Aorta	Aorta
42	chr3:28957800-28958600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:28957800-28958800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:28957800-28958800	Active TSS	Ovary	ovary
45	chr3:28957800-28959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:28958000-28958200	Flanking Active TSS	Fetal Lung	lung
47	chr3:28958000-28958400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr3:28958000-28958400	Active TSS	Colon Smooth Muscle	Colon
49	chr3:28958000-28958400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr3:28958000-28958400	Active TSS	Stomach Smooth Muscle	stomach

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