Variant report

Variant	rs11724522
Chromosome Location	chr4:104033129-104033130
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	chr4:104031883..104034408-chr4:104035975..104039985,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10516498	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1054707	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724309	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11724466	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725048	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11727029	0.91[ASN][1000 genomes]
rs11729856	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11730764	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730765	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734318	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737673	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12500951	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504143	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12504262	0.94[ASN][1000 genomes]
rs12505289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505908	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506065	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506157	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506198	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507348	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508269	0.97[ASN][1000 genomes]
rs12511516	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512468	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1381658	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17215694	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215785	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217431	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17217592	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17283027	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17283077	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17283194	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17522932	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306478	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2866633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714833	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756268	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756269	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765086	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775972	0.99[ASN][1000 genomes]
rs3796982	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796983	0.93[ASN][1000 genomes]
rs3974474	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55895342	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56126326	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256243	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56378042	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56412006	0.94[ASN][1000 genomes]
rs58648171	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58888668	0.91[ASN][1000 genomes]
rs59192877	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59341670	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61355145	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533057	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66869812	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6822891	0.88[ASN][1000 genomes]
rs6825519	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6830791	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836162	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837114	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840401	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665040	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665042	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665048	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665052	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665056	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665063	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72665071	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665093	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72665096	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72666812	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746829	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7662455	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7664021	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666067	0.97[ASN][1000 genomes]
rs7668568	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675057	0.93[ASN][1000 genomes]
rs7686105	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7690059	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3409373	chr4:104032628-104035476	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3325628	chr4:104032728-104035676	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3419727	chr4:104032853-104035601	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11724522	BDH2	cis	Skin Sun Exposed Lower leg	GTEx
rs11724522	BDH2	cis	Thyroid	GTEx
rs11724522	BDH2	cis	lung	GTEx
rs11724522	BDH2	cis	Nerve Tibial	GTEx
rs11724522	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs11724522	BDH2	cis	Esophagus Muscularis	GTEx
rs11724522	BDH2	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104033600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:104021000-104049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:104021000-104049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:104021000-104056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:104021000-104058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
7	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
8	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
9	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
10	chr4:104021200-104045800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:104026200-104033200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:104026200-104033400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:104026600-104033200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:104026800-104046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:104027000-104033200	Strong transcription	Fetal Thymus	thymus
19	chr4:104027200-104033200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:104027200-104033200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:104027200-104033200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:104027200-104033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:104027200-104033200	Strong transcription	HMEC	breast
24	chr4:104027200-104033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:104027200-104033400	Strong transcription	Dnd41	blood
26	chr4:104027200-104033800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:104027600-104038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:104027800-104033200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:104028000-104033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:104028200-104033200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:104029000-104033200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:104029000-104056200	Weak transcription	Fetal Lung	lung
33	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:104030200-104036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:104030200-104039000	Weak transcription	NHDF-Ad	bronchial
37	chr4:104030200-104042400	Weak transcription	HepG2	liver
38	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
40	chr4:104030400-104049400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:104030400-104053000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:104030800-104055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:104031000-104033200	Strong transcription	K562	blood
44	chr4:104031000-104039200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:104031200-104039200	Weak transcription	NHLF	lung
46	chr4:104031200-104047000	Weak transcription	Thymus	Thymus
47	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
48	chr4:104031400-104053000	Weak transcription	Fetal Intestine Large	intestine
49	chr4:104031400-104057600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:104032000-104039200	Weak transcription	HSMM	muscle

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