Variant report

Variant	rs12440748
Chromosome Location	chr15:62313497-62313498
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10519144	0.96[ASN][1000 genomes]
rs10519154	0.85[ASN][1000 genomes]
rs12232347	0.95[ASN][1000 genomes]
rs12439027	0.96[ASN][1000 genomes]
rs12439366	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440611	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12441358	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12441436	0.82[ASN][1000 genomes]
rs12441791	0.82[ASN][1000 genomes]
rs12442506	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12442569	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591667	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12594218	0.81[AMR][1000 genomes]
rs12594396	0.96[ASN][1000 genomes]
rs12595158	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364809	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1559673	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17238110	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17238127	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17238189	0.96[ASN][1000 genomes]
rs17238210	0.92[ASN][1000 genomes]
rs17303831	0.82[ASN][1000 genomes]
rs17303866	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17303873	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2113935	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34516157	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35057371	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35592904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36143406	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784635	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809516	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774426	0.96[ASN][1000 genomes]
rs4775446	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775452	0.96[ASN][1000 genomes]
rs4775456	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7177538	0.96[ASN][1000 genomes]
rs72747848	0.82[ASN][1000 genomes]
rs72747849	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72747852	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72747853	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72747855	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72747856	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72747868	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72747869	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72747870	0.85[ASN][1000 genomes]
rs72747874	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72747879	0.96[ASN][1000 genomes]
rs72747895	0.96[ASN][1000 genomes]
rs72747896	0.96[ASN][1000 genomes]
rs72747901	0.96[ASN][1000 genomes]
rs72749703	0.96[ASN][1000 genomes]
rs72749733	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72749742	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72749744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72749754	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72749772	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8030161	0.95[ASN][1000 genomes]
rs8033347	0.81[AMR][1000 genomes]
rs963023	0.96[ASN][1000 genomes]
rs9635356	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788739	0.96[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv471247	chr15:62202481-62519658	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv569645	chr15:62202482-62319307	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv569646	chr15:62202482-62519658	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS 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
14	nsv904298	chr15:62218689-62338797	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv569648	chr15:62239697-62340126	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1044748	chr15:62276183-62521856	Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv542405	chr15:62276183-62521856	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
2	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:62230800-62317200	Weak transcription	Pancreas	Pancrea
4	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
5	chr15:62259400-62327200	Weak transcription	HepG2	liver
6	chr15:62264000-62323800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:62264000-62324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:62265600-62338200	Weak transcription	Stomach Mucosa	stomach
9	chr15:62276400-62326800	Weak transcription	Thymus	Thymus
10	chr15:62276400-62345000	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:62276600-62327600	Weak transcription	NHLF	lung
12	chr15:62276800-62317000	Weak transcription	Psoas Muscle	Psoas
13	chr15:62282200-62319000	Weak transcription	Fetal Brain Female	brain
14	chr15:62282200-62327800	Weak transcription	Colonic Mucosa	Colon
15	chr15:62282400-62314200	Weak transcription	Fetal Brain Male	brain
16	chr15:62287400-62322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:62288600-62327600	Weak transcription	HMEC	breast
18	chr15:62288600-62336600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:62297000-62315000	Weak transcription	K562	blood
20	chr15:62298200-62314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:62300000-62314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:62300000-62314800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:62300000-62327600	Weak transcription	Hela-S3	cervix
24	chr15:62300000-62327800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:62300000-62334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:62300200-62327600	Weak transcription	NH-A	brain
27	chr15:62300400-62351400	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:62300600-62319000	Weak transcription	HSMMtube	muscle
29	chr15:62300600-62322200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:62300600-62327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:62300600-62327600	Weak transcription	Brain Angular Gyrus	brain
32	chr15:62300600-62327600	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:62300600-62330600	Weak transcription	Aorta	Aorta
34	chr15:62300600-62330600	Weak transcription	Fetal Intestine Small	intestine
35	chr15:62300600-62337600	Weak transcription	Fetal Stomach	stomach
36	chr15:62300600-62342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:62300600-62345800	Weak transcription	Gastric	stomach
38	chr15:62300600-62351800	Weak transcription	Lung	lung
39	chr15:62300800-62314800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:62300800-62324400	Weak transcription	Brain Germinal Matrix	brain
41	chr15:62300800-62327600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:62300800-62351600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:62301200-62322200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:62301400-62327600	Weak transcription	Osteobl	bone
45	chr15:62301600-62314200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:62301600-62334400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:62301600-62336000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:62302200-62351600	Weak transcription	Fetal Thymus	thymus
49	chr15:62302200-62351600	Weak transcription	Ovary	ovary
50	chr15:62302400-62336200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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