Variant report

Variant	rs12591690
Chromosome Location	chr15:73031017-73031018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11072380	0.88[ASN][1000 genomes]
rs11072383	0.93[ASN][1000 genomes]
rs11072389	0.98[ASN][1000 genomes]
rs11856110	0.90[ASN][1000 genomes]
rs12437473	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439200	0.98[ASN][1000 genomes]
rs12439473	0.98[ASN][1000 genomes]
rs12591728	0.86[EUR][1000 genomes]
rs12594320	0.96[ASN][1000 genomes]
rs12898814	0.96[EUR][1000 genomes]
rs12902361	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12906007	0.91[ASN][1000 genomes]
rs12916236	0.99[ASN][1000 genomes]
rs12916448	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346165	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16957257	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16957297	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2162268	0.86[EUR][1000 genomes]
rs2304598	0.99[ASN][1000 genomes]
rs28397892	0.89[EUR][1000 genomes]
rs28562097	0.98[ASN][1000 genomes]
rs28648660	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28737436	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28801790	0.99[ASN][1000 genomes]
rs28827493	0.98[ASN][1000 genomes]
rs28866048	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33923961	0.83[EUR][1000 genomes]
rs34660767	0.99[ASN][1000 genomes]
rs4777541	0.98[ASN][1000 genomes]
rs6495017	0.86[ASN][1000 genomes]
rs7162166	0.86[EUR][1000 genomes]
rs7170394	0.93[ASN][1000 genomes]
rs7172397	0.93[ASN][1000 genomes]
rs7175918	0.93[ASN][1000 genomes]
rs7182854	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8023358	0.93[ASN][1000 genomes]
rs8024644	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8026559	0.90[ASN][1000 genomes]
rs8031691	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036269	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
2	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
4	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:73005000-73031800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:73018800-73032000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:73018800-73033400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:73019000-73032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:73019400-73031600	Strong transcription	Primary T cells from cord blood	blood
11	chr15:73020600-73034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
13	chr15:73021200-73034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:73021400-73033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:73021800-73032200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:73021800-73033000	Strong transcription	Primary B cells from cord blood	blood
18	chr15:73022000-73033400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:73022800-73032800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:73022800-73032800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:73022800-73033600	Strong transcription	Liver	Liver
22	chr15:73022800-73034400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:73023000-73033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:73023200-73033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:73023400-73032600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:73023600-73031200	Strong transcription	Fetal Brain Female	brain
27	chr15:73023600-73031800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:73023600-73032200	Strong transcription	Lung	lung
29	chr15:73023600-73033200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:73023800-73031400	Strong transcription	Ovary	ovary
31	chr15:73024400-73032200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:73024400-73046800	Weak transcription	Fetal Kidney	kidney
33	chr15:73024800-73031600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:73024800-73044000	Weak transcription	HMEC	breast
35	chr15:73025800-73034400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:73026000-73034000	Strong transcription	Fetal Lung	lung
37	chr15:73026000-73034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:73026600-73031200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:73026600-73031200	Strong transcription	Fetal Stomach	stomach
40	chr15:73026600-73031800	Strong transcription	Osteobl	bone
41	chr15:73026600-73032800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:73026600-73033600	Strong transcription	Adipose Nuclei	Adipose
43	chr15:73026600-73035400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:73026800-73031600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:73026800-73032000	Weak transcription	Fetal Heart	heart
46	chr15:73026800-73032200	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:73026800-73032400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:73027000-73032000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:73027000-73034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:73027200-73031400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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