Variant report

Variant	rs34638402
Chromosome Location	chr7:27661736-27661737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1000317	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12155171	0.92[EUR][1000 genomes]
rs12532737	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13227521	0.80[EUR][1000 genomes]
rs13227574	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13231645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13236065	0.93[EUR][1000 genomes]
rs13236908	0.82[EUR][1000 genomes]
rs13241127	0.89[AMR][1000 genomes]
rs34578407	0.85[EUR][1000 genomes]
rs35105727	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35232956	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35536764	0.92[EUR][1000 genomes]
rs35733141	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35771883	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35816118	0.81[AMR][1000 genomes]
rs35925990	0.80[EUR][1000 genomes]
rs36069602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36114463	0.86[EUR][1000 genomes]
rs4391326	0.83[EUR][1000 genomes]
rs4719901	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4722725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944455	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6968631	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969043	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969207	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71539525	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71539526	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71539527	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71539529	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71555704	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1802647	chr7:27658495-27673924	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34638402	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27651800-27674200	Weak transcription	Hela-S3	cervix
2	chr7:27654400-27696400	Weak transcription	Gastric	stomach
3	chr7:27655400-27665200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:27657200-27662200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:27657400-27661800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:27657400-27661800	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr7:27657400-27662600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr7:27658400-27662000	ZNF genes & repeats	Dnd41	blood
9	chr7:27658800-27687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:27658800-27688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:27659800-27672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:27659800-27675400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:27659800-27679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:27660000-27664400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:27660000-27667600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:27660000-27669800	Weak transcription	Left Ventricle	heart
17	chr7:27660000-27680600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:27660200-27661800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr7:27660200-27668000	Weak transcription	Osteobl	bone
20	chr7:27660200-27674600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:27660400-27668600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:27660400-27675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:27660400-27680200	Weak transcription	Fetal Kidney	kidney
24	chr7:27660600-27666600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:27660600-27667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:27660600-27674800	Weak transcription	Psoas Muscle	Psoas
27	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
28	chr7:27660800-27661800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr7:27660800-27661800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr7:27660800-27668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:27660800-27675600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:27660800-27676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:27661000-27661800	ZNF genes & repeats	Fetal Stomach	stomach
34	chr7:27661000-27661800	Strong transcription	Ovary	ovary
35	chr7:27661000-27666000	Weak transcription	Placenta	Placenta
36	chr7:27661000-27666000	Weak transcription	A549	lung
37	chr7:27661000-27666400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:27661000-27666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:27661000-27666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:27661000-27666600	Weak transcription	HSMM	muscle
41	chr7:27661000-27667400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:27661000-27675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:27661000-27675400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:27661000-27679600	Weak transcription	HSMMtube	muscle
45	chr7:27661000-27680600	Weak transcription	HepG2	liver
46	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:27661200-27661800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:27661200-27661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:27661200-27661800	ZNF genes & repeats	Aorta	Aorta
50	chr7:27661200-27661800	ZNF genes & repeats	Lung	lung

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