Variant report

Variant	rs58065683
Chromosome Location	chr2:112756581-112756582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10207726	0.98[ASN][1000 genomes]
rs1113419	0.93[EUR][1000 genomes]
rs11884641	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11884693	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11887652	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893308	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11902247	0.90[EUR][1000 genomes]
rs12466812	0.83[EUR][1000 genomes]
rs12469210	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470338	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474039	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12477716	0.84[EUR][1000 genomes]
rs1400321	0.84[EUR][1000 genomes]
rs1400324	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400325	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1516629	0.83[EUR][1000 genomes]
rs17174870	0.83[EUR][1000 genomes]
rs17175275	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17175331	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17835605	0.82[EUR][1000 genomes]
rs2001201	0.92[ASN][1000 genomes]
rs2001444	0.82[EUR][1000 genomes]
rs28377357	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3811632	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811640	0.87[ASN][1000 genomes]
rs4278932	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4349353	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4434006	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521048	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528767	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55708724	0.83[EUR][1000 genomes]
rs55728465	0.83[EUR][1000 genomes]
rs55766181	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55785997	0.82[EUR][1000 genomes]
rs55792453	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55799805	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55812028	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55972521	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56272510	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57116599	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57640566	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57732600	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58641606	0.83[EUR][1000 genomes]
rs59650987	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61583444	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6710733	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6712080	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6729037	0.83[EUR][1000 genomes]
rs6730521	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6737989	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6738237	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7563113	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7568632	0.84[EUR][1000 genomes]
rs7575552	0.84[EUR][1000 genomes]
rs7578057	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867311	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112718400-112776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:112723400-112758400	Weak transcription	Dnd41	blood
4	chr2:112723400-112789200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:112726200-112767600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:112730800-112770400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:112732600-112771200	Strong transcription	Liver	Liver
8	chr2:112733200-112789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:112740400-112768400	Weak transcription	Colonic Mucosa	Colon
10	chr2:112741400-112777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:112741400-112777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:112741600-112761800	Weak transcription	Small Intestine	intestine
13	chr2:112742000-112761200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:112742000-112776800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:112742400-112765800	Weak transcription	Placenta	Placenta
16	chr2:112742600-112761600	Weak transcription	Esophagus	oesophagus
17	chr2:112743000-112758000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:112744200-112777000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:112744200-112777200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:112744400-112767800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:112744600-112757000	Weak transcription	Fetal Kidney	kidney
22	chr2:112744600-112774000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:112746200-112761800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:112748600-112757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:112749200-112756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:112751400-112756800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:112751600-112756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:112751600-112759400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:112751800-112757800	Strong transcription	Left Ventricle	heart
30	chr2:112752400-112757800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:112752600-112759400	Weak transcription	Fetal Heart	heart
32	chr2:112753000-112761200	Weak transcription	Lung	lung
33	chr2:112753000-112784000	Weak transcription	Fetal Lung	lung
34	chr2:112753200-112757200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:112753200-112761400	Weak transcription	Stomach Mucosa	stomach
36	chr2:112753400-112761200	Weak transcription	Pancreas	Pancrea
37	chr2:112753600-112761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:112753600-112771600	Strong transcription	HepG2	liver
39	chr2:112753800-112761400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:112754200-112767800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:112754400-112767800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:112754600-112758200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:112755000-112757000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:112755000-112757200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:112755000-112757600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:112755200-112758600	Weak transcription	Primary T cells from cord blood	blood
47	chr2:112755200-112761200	Weak transcription	Spleen	Spleen
48	chr2:112755400-112789200	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:112755600-112758400	Weak transcription	HUVEC	blood vessel
50	chr2:112755600-112767600	Weak transcription	Fetal Muscle Leg	muscle

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