Variant report

Variant	rs11730764
Chromosome Location	chr4:104045810-104045811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:104043146..104047491-chr4:104049639..104052308,4	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10516498	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1054707	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724309	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11724466	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724522	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725048	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11727029	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11729856	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11730765	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734318	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737673	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12500951	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504143	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12504262	0.94[ASN][1000 genomes]
rs12505289	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505908	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506157	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506198	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507348	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508269	0.97[ASN][1000 genomes]
rs12511516	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512468	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1381658	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17215694	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215785	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215862	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217431	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17217592	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17283027	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17283077	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17283194	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17522932	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306478	0.99[ASN][1000 genomes]
rs2866633	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714833	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756268	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756269	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765086	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775972	0.99[ASN][1000 genomes]
rs3796982	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796983	0.93[ASN][1000 genomes]
rs3974474	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55895342	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56126326	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256243	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56378042	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56412006	0.94[ASN][1000 genomes]
rs58648171	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58888668	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59192877	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59341670	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61355145	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533057	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66869812	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6822891	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6825519	0.94[ASN][1000 genomes]
rs6830791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836162	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837114	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840401	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665040	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665042	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665048	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665052	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665054	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665056	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665063	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72665071	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665093	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72665096	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72666812	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736048	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746829	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7662455	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7664021	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666067	0.97[ASN][1000 genomes]
rs7668568	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675057	0.93[ASN][1000 genomes]
rs7686105	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7690059	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11730764	BDH2	cis	Thyroid	GTEx
rs11730764	BDH2	cis	Artery Tibial	GTEx
rs11730764	BDH2	cis	Esophagus Muscularis	GTEx
rs11730764	BDH2	cis	Nerve Tibial	GTEx
rs11730764	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs11730764	BDH2	cis	Skin Sun Exposed Lower leg	GTEx
rs11730764	BDH2	cis	lung	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:104021000-104049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:104021000-104056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:104021000-104058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
6	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
7	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
8	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
9	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:104026800-104046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:104029000-104056200	Weak transcription	Fetal Lung	lung
14	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
18	chr4:104030400-104049400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:104030400-104053000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:104030800-104055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:104031200-104047000	Weak transcription	Thymus	Thymus
22	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
23	chr4:104031400-104053000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:104031400-104057600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:104032000-104049200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:104032200-104053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:104032200-104053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:104032400-104049200	Weak transcription	A549	lung
29	chr4:104032400-104049200	Weak transcription	GM12878-XiMat	blood
30	chr4:104032600-104049400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:104032600-104050200	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:104033200-104054200	Weak transcription	NH-A	brain
33	chr4:104034800-104049400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:104034800-104050800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:104035200-104057800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr4:104036200-104050000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:104038200-104095800	Strong transcription	Fetal Thymus	thymus
38	chr4:104039200-104058400	Weak transcription	Left Ventricle	heart
39	chr4:104039200-104077400	Strong transcription	Dnd41	blood
40	chr4:104040200-104049200	Weak transcription	NHDF-Ad	bronchial
41	chr4:104040200-104049600	Weak transcription	NHLF	lung
42	chr4:104041600-104053000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:104043200-104049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:104044600-104070600	Weak transcription	HepG2	liver
45	chr4:104044800-104053200	Weak transcription	K562	blood
46	chr4:104045000-104046000	Weak transcription	NHEK	skin
47	chr4:104045000-104047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:104045000-104047800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:104045000-104048800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:104045000-104049000	Weak transcription	Primary hematopoietic stem cells	blood

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