Variant report

Variant	rs6837114
Chromosome Location	chr4:104118223-104118224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104117492..104119427-chr4:104178040..104180048,2	K562	blood:
2	chr4:104100637..104104241-chr4:104117488..104119575,3	K562	blood:
3	chr4:103996203..103997965-chr4:104116814..104119178,2	K562	blood:

Variant related genes	Relation type
ENSG00000164038	Chromatin interaction
ENSG00000138778	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10516498	0.93[ASN][1000 genomes]
rs1054707	0.93[ASN][1000 genomes]
rs11724309	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11724466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11724522	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11725048	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11727029	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11729856	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11730764	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730765	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11734318	0.90[ASN][1000 genomes]
rs11737673	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12500951	0.93[ASN][1000 genomes]
rs12504143	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504262	0.87[ASN][1000 genomes]
rs12505289	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12505908	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12506065	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12506157	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12506198	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507348	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12508269	0.90[ASN][1000 genomes]
rs12511516	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12512468	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1381658	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17215694	0.93[ASN][1000 genomes]
rs17215785	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17215862	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17217431	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217592	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17283027	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17283077	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17283194	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17522932	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306478	0.91[ASN][1000 genomes]
rs2866633	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35714833	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3756268	0.93[ASN][1000 genomes]
rs3756269	0.93[ASN][1000 genomes]
rs3765086	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775972	0.91[ASN][1000 genomes]
rs3796982	0.93[ASN][1000 genomes]
rs3796983	0.86[ASN][1000 genomes]
rs3974474	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55895342	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56126326	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56138287	0.81[ASN][1000 genomes]
rs56256243	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56378042	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56412006	0.87[ASN][1000 genomes]
rs58648171	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58888668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59192877	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59341670	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61355145	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533057	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66869812	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6822891	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6825519	0.87[ASN][1000 genomes]
rs6830791	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6836162	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840401	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665040	0.93[ASN][1000 genomes]
rs72665042	0.93[ASN][1000 genomes]
rs72665048	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665052	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665054	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665056	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665063	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72665071	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72665093	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665096	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72666812	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736048	0.93[ASN][1000 genomes]
rs746829	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7662455	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7664021	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666067	0.90[ASN][1000 genomes]
rs7668568	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7675057	0.86[ASN][1000 genomes]
rs7686105	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7690059	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6837114	BDH2	cis	lung	GTEx
rs6837114	BDH2	cis	Nerve Tibial	GTEx
rs6837114	BDH2	cis	Esophagus Muscularis	GTEx
rs6837114	BDH2	cis	Artery Tibial	GTEx
rs6837114	BDH2	cis	Skin Sun Exposed Lower leg	GTEx
rs6837114	BDH2	cis	Thyroid	GTEx
rs6837114	BDH2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104058200-104118400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:104073600-104118400	Weak transcription	Fetal Kidney	kidney
3	chr4:104089800-104119000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:104090000-104118600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:104090000-104119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:104095200-104118800	Weak transcription	Adipose Nuclei	Adipose
7	chr4:104097000-104119000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:104100800-104118400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:104101000-104118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:104104600-104119000	Weak transcription	Ovary	ovary
11	chr4:104106800-104119000	Weak transcription	Stomach Mucosa	stomach
12	chr4:104113400-104118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:104113800-104118400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:104113800-104118400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:104116000-104118800	Weak transcription	Placenta	Placenta
16	chr4:104116200-104118600	Weak transcription	Brain Substantia Nigra	brain
17	chr4:104117000-104118400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:104117200-104118400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr4:104117600-104118600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:104117600-104118600	Enhancers	Fetal Heart	heart
21	chr4:104117800-104118800	Flanking Active TSS	HUVEC	blood vessel
22	chr4:104117800-104120200	Active TSS	NHDF-Ad	bronchial
23	chr4:104118000-104118400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:104118000-104118400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:104118000-104118400	Enhancers	Fetal Stomach	stomach
26	chr4:104118000-104118400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:104118000-104118400	Flanking Active TSS	Osteobl	bone
28	chr4:104118000-104118600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:104118000-104118600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:104118000-104118600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:104118000-104118600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:104118000-104118600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:104118000-104118600	Flanking Active TSS	HepG2	liver
34	chr4:104118000-104118600	Flanking Active TSS	HMEC	breast
35	chr4:104118000-104118800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr4:104118000-104118800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:104118000-104118800	Flanking Active TSS	Dnd41	blood
38	chr4:104118000-104118800	Flanking Active TSS	NHEK	skin
39	chr4:104118000-104119200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:104118000-104120000	Active TSS	A549	lung
41	chr4:104118000-104120200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr4:104118000-104120200	Active TSS	GM12878-XiMat	blood
43	chr4:104118000-104120400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:104118000-104120400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:104118000-104120400	Active TSS	NHLF	lung
46	chr4:104118200-104118400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:104118200-104118400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:104118200-104118400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:104118200-104118400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:104118200-104118400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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