Variant report

Variant	rs72965350
Chromosome Location	chr3:53044936-53044937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs28696085	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3806693	1.00[ASN][1000 genomes]
rs55794978	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885034	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56835905	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57940327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58309671	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840385	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59515578	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60744886	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61285888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61297461	1.00[AFR][1000 genomes]
rs61437303	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61438885	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6772715	0.90[AFR][1000 genomes]
rs72961763	0.90[AFR][1000 genomes]
rs72965343	0.99[AFR][1000 genomes]
rs72965345	1.00[ASN][1000 genomes]
rs72965354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965361	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965366	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7631487	1.00[ASN][1000 genomes]
rs9819608	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9822686	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv3823	chr3:53003659-53051063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763768	chr3:53023211-53045925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv876799	chr3:53024216-53060637	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv517046	chr3:53026714-53046216	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv437713	chr3:53026714-53055522	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv590319	chr3:53027983-53046216	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv590320	chr3:53027983-53055842	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv590321	chr3:53027983-53062661	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv997853	chr3:53028375-53045913	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv590328	chr3:53028375-53046216	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1000857	chr3:53031724-53045913	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1000733	chr3:53031724-53053645	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv999029	chr3:53032013-53045913	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv590339	chr3:53033295-53046216	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:53020600-53057000	Weak transcription	Dnd41	blood
5	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:53025600-53061600	Weak transcription	Lung	lung
7	chr3:53027600-53061600	Weak transcription	Liver	Liver
8	chr3:53027800-53051000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:53030200-53059400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:53030400-53052400	Weak transcription	Primary T cells from cord blood	blood
11	chr3:53030800-53050400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:53032800-53051600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
14	chr3:53033200-53057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:53033600-53056200	Weak transcription	Fetal Stomach	stomach
16	chr3:53033800-53045200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:53033800-53052800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:53033800-53053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:53033800-53060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
23	chr3:53041400-53053600	Weak transcription	Fetal Thymus	thymus
24	chr3:53043000-53046000	Enhancers	GM12878-XiMat	blood
25	chr3:53043200-53045600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:53043400-53045200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:53043600-53045200	Enhancers	Fetal Heart	heart
28	chr3:53043600-53045800	Enhancers	HepG2	liver
29	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
30	chr3:53044000-53045000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:53044000-53045200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:53044000-53045400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:53044000-53045400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:53044000-53045600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:53044000-53045800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:53044200-53045200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:53044200-53045400	Enhancers	Adipose Nuclei	Adipose
38	chr3:53044200-53045400	Enhancers	Fetal Muscle Trunk	muscle
39	chr3:53044200-53045400	Enhancers	Psoas Muscle	Psoas
40	chr3:53044200-53045600	Enhancers	Left Ventricle	heart
41	chr3:53044200-53046000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:53044200-53046400	Enhancers	Right Atrium	heart
43	chr3:53044400-53045000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:53044400-53045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:53044400-53050400	Weak transcription	A549	lung
46	chr3:53044400-53052400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:53044400-53056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:53044600-53045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:53044600-53048800	Weak transcription	Pancreas	Pancrea
50	chr3:53044600-53050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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