Variant report

Variant	rs34578407
Chromosome Location	chr7:27647919-27647920
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27646394..27648572-chr7:27650317..27653232,2	K562	blood:
2	chr7:27646490..27649640-chr7:27701348..27703322,3	K562	blood:
3	chr7:27647308..27649264-chr7:27813060..27815813,2	K562	blood:
4	chr7:27646423..27648425-chr7:27891373..27893179,2	K562	blood:
5	chr7:27646490..27648227-chr7:27701631..27703322,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000317	0.97[EUR][1000 genomes]
rs12155171	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12532737	0.82[EUR][1000 genomes]
rs12534656	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12539472	0.86[AMR][1000 genomes]
rs13224916	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13227521	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13227574	0.84[EUR][1000 genomes]
rs13231645	0.86[EUR][1000 genomes]
rs13232561	0.91[EUR][1000 genomes]
rs13236065	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13236908	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13241127	0.90[EUR][1000 genomes]
rs34638402	0.85[EUR][1000 genomes]
rs35105727	0.83[EUR][1000 genomes]
rs35232956	0.82[EUR][1000 genomes]
rs35536764	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35733141	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35771883	0.88[EUR][1000 genomes]
rs35816118	0.94[EUR][1000 genomes]
rs35925990	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36069602	0.86[EUR][1000 genomes]
rs4719896	0.88[EUR][1000 genomes]
rs4719901	0.95[EUR][1000 genomes]
rs4722725	0.81[EUR][1000 genomes]
rs6944455	0.85[EUR][1000 genomes]
rs6968631	0.83[EUR][1000 genomes]
rs6969043	0.83[EUR][1000 genomes]
rs6969207	0.83[EUR][1000 genomes]
rs71539523	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71539525	0.95[EUR][1000 genomes]
rs71539526	0.97[EUR][1000 genomes]
rs71539527	0.96[EUR][1000 genomes]
rs71539529	1.00[EUR][1000 genomes]
rs71555704	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34578407	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
4	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
5	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
6	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27644400-27649200	Enhancers	Fetal Intestine Small	intestine
15	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:27645000-27648200	Weak transcription	HSMMtube	muscle
17	chr7:27645000-27649000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:27646200-27648400	Weak transcription	NHEK	skin
21	chr7:27646200-27649200	Enhancers	Fetal Intestine Large	intestine
22	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
23	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:27646400-27648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:27646400-27648600	Enhancers	HepG2	liver
27	chr7:27646400-27650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:27646400-27650800	Weak transcription	NHDF-Ad	bronchial
29	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
31	chr7:27646600-27648400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:27646600-27648400	Weak transcription	NH-A	brain
33	chr7:27646600-27648800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:27646600-27649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:27646600-27649200	Enhancers	HUVEC	blood vessel
36	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:27646800-27648000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:27646800-27648200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:27646800-27648200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:27646800-27648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:27646800-27649400	Enhancers	A549	lung
43	chr7:27646800-27650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:27646800-27650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:27646800-27658800	Weak transcription	Osteobl	bone
48	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:27647000-27648400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:27647000-27648800	Weak transcription	Muscle Satellite Cultured Cells	--

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