Variant report

Variant	rs2126420
Chromosome Location	chr15:34554157-34554158
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	chr15:34553058..34555521-chr15:34561938..34565007,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12591967	0.89[ASN][1000 genomes]
rs12594569	0.88[AFR][1000 genomes]
rs168335	0.84[ASN][1000 genomes]
rs16958910	0.89[ASN][1000 genomes]
rs16958954	0.87[ASN][1000 genomes]
rs2085966	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2126421	0.89[ASN][1000 genomes]
rs2644245	0.84[ASN][1000 genomes]
rs2705348	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28539755	0.80[ASN][1000 genomes]
rs347804	0.80[ASN][1000 genomes]
rs347805	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs347806	0.83[ASN][1000 genomes]
rs347807	0.83[ASN][1000 genomes]
rs347810	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs347812	0.85[AFR][1000 genomes]
rs347813	0.82[AFR][1000 genomes]
rs347817	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs347818	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs347819	0.80[ASN][1000 genomes]
rs347822	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs347824	0.81[ASN][1000 genomes]
rs347842	0.87[ASN][1000 genomes]
rs347843	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs347847	0.83[ASN][1000 genomes]
rs347848	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs347849	0.83[ASN][1000 genomes]
rs347851	0.83[ASN][1000 genomes]
rs347858	0.87[ASN][1000 genomes]
rs347866	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs380248	0.80[ASN][1000 genomes]
rs383029	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs405080	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs419179	0.84[AFR][1000 genomes]
rs426634	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs436552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs440025	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs442006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs449053	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56207527	0.95[ASN][1000 genomes]
rs56388838	0.95[ASN][1000 genomes]
rs57715165	0.84[ASN][1000 genomes]
rs57875866	0.87[ASN][1000 genomes]
rs59802332	0.85[ASN][1000 genomes]
rs60114685	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs60539207	0.88[ASN][1000 genomes]
rs6495660	0.82[ASN][1000 genomes]
rs7163919	0.88[ASN][1000 genomes]
rs7164902	0.87[ASN][1000 genomes]
rs7175028	0.80[ASN][1000 genomes]
rs7176009	0.80[ASN][1000 genomes]
rs7176426	0.80[ASN][1000 genomes]
rs7181260	0.95[ASN][1000 genomes]
rs73374434	0.84[ASN][1000 genomes]
rs73390084	0.88[ASN][1000 genomes]
rs73392004	0.88[ASN][1000 genomes]
rs7495538	0.88[ASN][1000 genomes]
rs8025057	0.82[ASN][1000 genomes]
rs8041425	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs8043005	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2126420	KATNBL1	cis	Esophagus Muscularis	GTEx
rs2126420	SLC12A6	cis	Thyroid	GTEx
rs2126420	NOP10	cis	Thyroid	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34520200-34555600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr15:34528600-34554600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:34529000-34554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:34533000-34555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:34533000-34556600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:34533000-34564000	Weak transcription	NHLF	lung
8	chr15:34533200-34557400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:34533200-34562800	Weak transcription	Pancreas	Pancrea
10	chr15:34543000-34568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:34543200-34558800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:34544600-34554400	Weak transcription	NHDF-Ad	bronchial
13	chr15:34544600-34559000	Weak transcription	A549	lung
14	chr15:34545400-34555400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:34546600-34555800	Weak transcription	Hela-S3	cervix
16	chr15:34546600-34556400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:34546800-34554400	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:34546800-34554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:34546800-34554800	Weak transcription	Gastric	stomach
20	chr15:34546800-34555000	Weak transcription	Right Ventricle	heart
21	chr15:34546800-34556400	Weak transcription	Brain Germinal Matrix	brain
22	chr15:34546800-34556400	Weak transcription	Fetal Brain Female	brain
23	chr15:34546800-34556600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:34546800-34557000	Weak transcription	NHEK	skin
25	chr15:34546800-34567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:34546800-34568000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:34546800-34569400	Weak transcription	Ovary	ovary
28	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
30	chr15:34547000-34556600	Weak transcription	Brain Angular Gyrus	brain
31	chr15:34547400-34554600	Weak transcription	Esophagus	oesophagus
32	chr15:34547400-34562800	Weak transcription	HSMMtube	muscle
33	chr15:34547400-34564200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
35	chr15:34547800-34555200	Enhancers	Fetal Heart	heart
36	chr15:34548200-34558800	Weak transcription	Fetal Stomach	stomach
37	chr15:34548200-34563800	Weak transcription	Osteobl	bone
38	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:34548600-34565400	Weak transcription	Fetal Intestine Large	intestine
40	chr15:34548800-34554600	Weak transcription	Thymus	Thymus
41	chr15:34548800-34556400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:34549200-34556800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:34549200-34563600	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:34549200-34567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
46	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:34550800-34556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:34551000-34558800	Weak transcription	HepG2	liver
49	chr15:34551000-34559400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:34551000-34562000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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