Variant report

Variant	rs12591362
Chromosome Location	chr15:99893371-99893372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99892876..99894985-chr15:99896171..99899011,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10902542	0.88[AMR][1000 genomes]
rs11247069	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11247070	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11247071	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11247076	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11247077	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11247078	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12439820	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12440060	0.93[AMR][1000 genomes]
rs12441965	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12441996	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12442505	0.98[AMR][1000 genomes]
rs12591088	0.83[AMR][1000 genomes]
rs12591268	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12591894	0.89[AMR][1000 genomes]
rs12591897	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12591991	0.93[AMR][1000 genomes]
rs12592035	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12592064	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12592097	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12592717	0.83[AMR][1000 genomes]
rs12592864	0.89[AFR][1000 genomes]
rs12593076	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12593192	0.85[AMR][1000 genomes]
rs12593456	0.89[AMR][1000 genomes]
rs12593549	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12594123	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12594250	0.91[AMR][1000 genomes]
rs12594607	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12594709	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12594851	0.87[AMR][1000 genomes]
rs12595099	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12595545	0.89[AMR][1000 genomes]
rs12901547	0.89[AMR][1000 genomes]
rs12902590	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12904240	0.89[AMR][1000 genomes]
rs12906323	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12906924	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12907938	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12908049	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12910952	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12914149	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12914665	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12917176	0.83[AMR][1000 genomes]
rs1510058	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2048302	0.84[AFR][1000 genomes]
rs2048303	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2048304	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2089708	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2136629	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2862141	0.86[AMR][1000 genomes]
rs34087342	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34139963	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34258129	0.86[AMR][1000 genomes]
rs34423043	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34429509	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34448644	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34569062	0.87[AMR][1000 genomes]
rs34583616	0.87[AMR][1000 genomes]
rs34623694	0.98[AMR][1000 genomes]
rs34817204	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34908347	0.93[AMR][1000 genomes]
rs34971332	0.98[AMR][1000 genomes]
rs35103557	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35108411	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35137571	0.89[AMR][1000 genomes]
rs35405100	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35703983	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35714966	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs36074799	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3784602	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3961782	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4360910	0.89[AMR][1000 genomes]
rs71403442	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7163435	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7169355	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7171061	0.89[AMR][1000 genomes]
rs7172501	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7176859	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7177149	0.98[AMR][1000 genomes]
rs8029457	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8029885	0.87[AMR][1000 genomes]
rs8031904	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8033266	0.89[AMR][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	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	60 gene(s)	inside rSNPs	diseases
3	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv1052683	chr15:99869631-99924685	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv542521	chr15:99869631-99924685	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99859400-99906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:99863200-99899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:99864400-99902200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:99867200-99926600	Weak transcription	NHEK	skin
5	chr15:99869600-99893400	Weak transcription	Aorta	Aorta
6	chr15:99871600-99895200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:99872000-99906600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:99872000-99912600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:99872600-99909000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:99872800-99906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:99872800-99911400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:99873200-99894800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:99874400-99893400	Weak transcription	Lung	lung
14	chr15:99874400-99903400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:99874600-99895400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:99874600-99906600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:99876200-99902200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:99877000-99893400	Weak transcription	Adipose Nuclei	Adipose
19	chr15:99877800-99906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:99878000-99901600	Weak transcription	Thymus	Thymus
21	chr15:99878200-99906600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:99880000-99906200	Weak transcription	Small Intestine	intestine
23	chr15:99881000-99903000	Weak transcription	Fetal Intestine Small	intestine
24	chr15:99881400-99906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:99881600-99903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:99882000-99905000	Weak transcription	Brain Anterior Caudate	brain
27	chr15:99882200-99903800	Weak transcription	Fetal Lung	lung
28	chr15:99882200-99908600	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:99882600-99906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:99882600-99908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:99882600-99911200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:99882600-99925200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:99882800-99893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:99882800-99906200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:99882800-99908600	Weak transcription	Placenta	Placenta
36	chr15:99884400-99901600	Weak transcription	Left Ventricle	heart
37	chr15:99884400-99905200	Weak transcription	Gastric	stomach
38	chr15:99884400-99910400	Weak transcription	Brain Substantia Nigra	brain
39	chr15:99884600-99910800	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:99885200-99906000	Weak transcription	NHDF-Ad	bronchial
41	chr15:99885400-99894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:99885400-99911800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:99885400-99916000	Weak transcription	Fetal Heart	heart
44	chr15:99886600-99906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:99886600-99911400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:99886600-99931400	Weak transcription	Esophagus	oesophagus
47	chr15:99889800-99896200	Weak transcription	A549	lung
48	chr15:99890000-99901400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:99890200-99893400	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:99890800-99900000	Weak transcription	GM12878-XiMat	blood

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