Variant report

Variant	rs12908472
Chromosome Location	chr15:62186502-62186503
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	chr15:62178968..62180848-chr15:62186299..62188013,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519157	0.83[ASN][1000 genomes]
rs11071642	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11632425	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11634163	0.90[ASN][1000 genomes]
rs11635980	0.81[ASN][1000 genomes]
rs12437684	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440524	0.81[ASN][1000 genomes]
rs12898423	0.94[ASN][1000 genomes]
rs12906423	0.89[EUR][1000 genomes]
rs12908081	0.90[EUR][1000 genomes]
rs12911564	0.89[EUR][1000 genomes]
rs12915295	0.90[EUR][1000 genomes]
rs12915825	0.90[EUR][1000 genomes]
rs12916268	0.90[EUR][1000 genomes]
rs13379492	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379947	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1425270	0.84[EUR][1000 genomes]
rs17271193	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17271305	0.90[ASN][1000 genomes]
rs1981916	0.89[EUR][1000 genomes]
rs1981917	0.90[EUR][1000 genomes]
rs2414753	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414755	0.90[EUR][1000 genomes]
rs28373613	0.80[EUR][1000 genomes]
rs28411984	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513564	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34965045	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35967150	0.91[ASN][1000 genomes]
rs3743297	0.90[EUR][1000 genomes]
rs3784634	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4283171	0.90[EUR][1000 genomes]
rs4587915	0.84[EUR][1000 genomes]
rs4774427	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775453	0.90[EUR][1000 genomes]
rs5006593	0.94[ASN][1000 genomes]
rs62008532	0.81[ASN][1000 genomes]
rs7172967	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177173	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7179506	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8027751	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8032681	0.90[EUR][1000 genomes]
rs8034216	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8034335	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8034914	0.94[ASN][1000 genomes]
rs8039105	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904284	chr15:62123600-62243197	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904285	chr15:62146598-62246864	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv904286	chr15:62146598-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv904287	chr15:62146598-62338797	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv569641	chr15:62155282-62287456	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv904289	chr15:62156690-62287456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv516639	chr15:62175134-62340126	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv904290	chr15:62175134-62356386	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv569642	chr15:62178695-62243197	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv904291	chr15:62178695-62287456	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv904292	chr15:62178695-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv904293	chr15:62178695-62338797	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv904294	chr15:62178695-62356386	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv457176	chr15:62178695-62519658	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv569643	chr15:62178695-62519658	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
2	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
3	chr15:62142600-62209200	Weak transcription	K562	blood
4	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
5	chr15:62144000-62194600	Weak transcription	Fetal Lung	lung
6	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
7	chr15:62149000-62198000	Weak transcription	Fetal Kidney	kidney
8	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
9	chr15:62154200-62198200	Weak transcription	NH-A	brain
10	chr15:62162600-62195200	Weak transcription	Fetal Stomach	stomach
11	chr15:62163000-62198400	Weak transcription	Osteobl	bone
12	chr15:62165600-62198400	Weak transcription	Thymus	Thymus
13	chr15:62173400-62198200	Weak transcription	Left Ventricle	heart
14	chr15:62181800-62198800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:62182600-62197200	Weak transcription	HSMM	muscle
16	chr15:62182600-62198400	Weak transcription	Fetal Thymus	thymus
17	chr15:62183000-62198200	Weak transcription	HUVEC	blood vessel
18	chr15:62184000-62187600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:62184000-62190000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:62184000-62190000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:62184200-62186600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr15:62184200-62187200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr15:62184200-62187600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:62184200-62188000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:62184200-62188200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr15:62184400-62186800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr15:62184400-62187000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr15:62184400-62187200	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr15:62184400-62187200	ZNF genes & repeats	GM12878-XiMat	blood
30	chr15:62184600-62187000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:62184600-62187000	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr15:62184600-62187400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:62184600-62188000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:62185000-62187200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr15:62185000-62187400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr15:62185000-62199600	Weak transcription	Stomach Mucosa	stomach
38	chr15:62185000-62221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:62185200-62186800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:62185400-62186600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr15:62185600-62187200	Strong transcription	A549	lung
42	chr15:62185600-62188200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:62185600-62189000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:62185600-62194400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:62185600-62194600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:62185600-62194600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:62185600-62195200	Weak transcription	Ovary	ovary
48	chr15:62185600-62197000	Weak transcription	Brain Substantia Nigra	brain
49	chr15:62185600-62197200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:62185600-62198000	Weak transcription	Rectal Smooth Muscle	rectum

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