Variant report

Variant	rs12439473
Chromosome Location	chr15:73057671-73057672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11072380	0.86[ASN][1000 genomes]
rs11072383	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072389	1.00[ASN][1000 genomes]
rs11856110	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12437473	1.00[ASN][1000 genomes]
rs12439200	1.00[ASN][1000 genomes]
rs12591690	0.98[ASN][1000 genomes]
rs12594320	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902361	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12906007	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12916236	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916448	0.87[ASN][1000 genomes]
rs1346165	0.86[ASN][1000 genomes]
rs16957257	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16957297	0.88[ASN][1000 genomes]
rs2304598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28562097	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28648660	1.00[ASN][1000 genomes]
rs28737436	1.00[ASN][1000 genomes]
rs28801790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28827493	1.00[ASN][1000 genomes]
rs28866048	0.88[ASN][1000 genomes]
rs34660767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4777541	1.00[ASN][1000 genomes]
rs6495017	0.88[ASN][1000 genomes]
rs6495018	0.81[ASN][1000 genomes]
rs7170394	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172397	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175918	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7182854	0.98[ASN][1000 genomes]
rs8023358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024644	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8026559	0.88[ASN][1000 genomes]
rs8031691	1.00[ASN][1000 genomes]
rs8036269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:73041800-73071000	Strong transcription	Liver	Liver
3	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:73042200-73058600	Strong transcription	A549	lung
5	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
8	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
9	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
11	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
12	chr15:73044000-73058600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
14	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:73045400-73059800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:73045400-73060800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
22	chr15:73045800-73059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:73046200-73059200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:73046600-73058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:73046600-73059200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:73046800-73059000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:73046800-73060600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:73049000-73059800	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:73049000-73063800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:73049200-73059000	Weak transcription	Stomach Mucosa	stomach
33	chr15:73049200-73059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:73049400-73058200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:73050400-73058400	Weak transcription	Colonic Mucosa	Colon
36	chr15:73050400-73059200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr15:73050400-73060600	Weak transcription	Gastric	stomach
38	chr15:73051000-73059600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:73051200-73058600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:73051200-73058600	Strong transcription	Adipose Nuclei	Adipose
41	chr15:73051200-73058800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:73051200-73058800	Weak transcription	Fetal Brain Female	brain
43	chr15:73051200-73058800	Weak transcription	HUVEC	blood vessel
44	chr15:73051200-73060200	Weak transcription	NH-A	brain
45	chr15:73051200-73060800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:73051200-73060800	Weak transcription	Right Ventricle	heart
47	chr15:73051200-73062600	Weak transcription	Brain Angular Gyrus	brain
48	chr15:73051200-73062600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:73051800-73058800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:73051800-73059000	Weak transcription	HMEC	breast

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