Variant report

Variant	rs72901315
Chromosome Location	chr2:187388472-187388473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10181681	0.91[EUR][1000 genomes]
rs10497672	0.90[EUR][1000 genomes]
rs11675633	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675656	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690758	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692347	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11888432	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898666	0.80[EUR][1000 genomes]
rs11901465	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11903027	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13392819	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13394241	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13401304	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428033	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1448848	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1448849	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16827968	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16827994	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868383	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869031	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2084488	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2197139	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2370688	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2887826	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35642346	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56137171	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61434493	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6709401	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6728382	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6744717	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72895449	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72897386	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72901322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579259	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7584137	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7603088	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917285	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
4	chr2:187367200-187396800	Weak transcription	Gastric	stomach
5	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
8	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
10	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
11	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
18	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:187380400-187389200	Weak transcription	Fetal Lung	lung
20	chr2:187381800-187406600	Weak transcription	NHEK	skin
21	chr2:187383000-187397000	Weak transcription	K562	blood
22	chr2:187383400-187388600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:187384200-187397800	Weak transcription	A549	lung
25	chr2:187386200-187388600	Weak transcription	Aorta	Aorta
26	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
27	chr2:187386200-187395800	Weak transcription	NH-A	brain
28	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:187386200-187398400	Weak transcription	Liver	Liver
31	chr2:187386200-187405200	Weak transcription	HSMM	muscle
32	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:187386400-187390200	Weak transcription	Fetal Intestine Large	intestine
34	chr2:187386600-187389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:187386600-187389000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:187386800-187388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:187386800-187388800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:187386800-187390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:187386800-187390600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:187386800-187392000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:187386800-187397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:187386800-187397400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:187386800-187397600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:187387000-187388600	Weak transcription	Fetal Brain Female	brain
45	chr2:187387000-187388800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:187387000-187389000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:187387000-187389200	Weak transcription	Fetal Stomach	stomach
48	chr2:187387000-187390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:187387000-187395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:187387200-187389000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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