Variant report

Variant	rs56024263
Chromosome Location	chr7:27633855-27633856
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	chr7:27632388..27634054-chr7:27634467..27637365,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1005128	0.84[EUR][1000 genomes]
rs1009252	0.85[EUR][1000 genomes]
rs1014373	0.81[EUR][1000 genomes]
rs1015750	0.82[EUR][1000 genomes]
rs1030003	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1052724	0.81[EUR][1000 genomes]
rs10807841	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10951171	0.84[EUR][1000 genomes]
rs10951172	0.84[EUR][1000 genomes]
rs11767188	0.82[EUR][1000 genomes]
rs12537499	0.82[EUR][1000 genomes]
rs12539707	0.84[EUR][1000 genomes]
rs12667235	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12668430	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12670415	0.84[EUR][1000 genomes]
rs12670771	0.80[EUR][1000 genomes]
rs12700817	0.82[EUR][1000 genomes]
rs12700819	0.82[EUR][1000 genomes]
rs12700822	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13226102	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13308974	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1404276	0.82[EUR][1000 genomes]
rs1404278	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1524532	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1524533	0.85[EUR][1000 genomes]
rs1554641	0.82[EUR][1000 genomes]
rs1608664	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1851913	0.81[EUR][1000 genomes]
rs1880370	0.82[EUR][1000 genomes]
rs1980329	0.87[EUR][1000 genomes]
rs2041714	0.81[EUR][1000 genomes]
rs2080245	0.81[EUR][1000 genomes]
rs2098315	0.81[EUR][1000 genomes]
rs2110526	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2110528	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2391443	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28416309	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28429439	0.87[EUR][1000 genomes]
rs3925338	0.82[EUR][1000 genomes]
rs4140899	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4348389	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4719898	0.81[EUR][1000 genomes]
rs4719900	0.81[EUR][1000 genomes]
rs4719902	0.82[EUR][1000 genomes]
rs4722719	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6462026	0.81[EUR][1000 genomes]
rs6462029	0.81[EUR][1000 genomes]
rs6462031	0.82[EUR][1000 genomes]
rs6462034	0.81[EUR][1000 genomes]
rs6462036	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6462037	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6947731	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6948814	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6955074	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6959126	0.83[EUR][1000 genomes]
rs6960834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6963585	0.82[EUR][1000 genomes]
rs6980382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs759269	0.82[EUR][1000 genomes]
rs7780431	0.82[EUR][1000 genomes]
rs7783447	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7789788	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806605	0.85[EUR][1000 genomes]
rs7811436	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9639552	0.81[EUR][1000 genomes]
rs9639553	0.81[EUR][1000 genomes]
rs9639560	0.84[EUR][1000 genomes]
rs978447	0.82[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
rs56024263	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27600600-27645600	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:27605800-27645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
6	chr7:27616000-27643400	Weak transcription	Fetal Lung	lung
7	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
8	chr7:27618400-27645000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:27619600-27634800	Weak transcription	Fetal Intestine Small	intestine
10	chr7:27619600-27635600	Weak transcription	Liver	Liver
11	chr7:27619800-27639800	Weak transcription	HepG2	liver
12	chr7:27619800-27643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:27624400-27636600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:27625200-27642600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:27625800-27639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:27625800-27645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
18	chr7:27626800-27641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:27626800-27646200	Weak transcription	Ovary	ovary
20	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:27627400-27640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:27627400-27641400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:27627400-27641600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:27627400-27645800	Weak transcription	HSMM	muscle
25	chr7:27627800-27645000	Weak transcription	NHDF-Ad	bronchial
26	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:27628400-27638400	Weak transcription	K562	blood
28	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:27629600-27641800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
32	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:27631400-27641600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:27631400-27643400	Weak transcription	Hela-S3	cervix
35	chr7:27632000-27638200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
37	chr7:27632400-27640200	Weak transcription	Adipose Nuclei	Adipose
38	chr7:27632800-27638400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:27632800-27640400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:27632800-27640800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:27633000-27638200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:27633000-27645800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:27633400-27645600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:27633400-27645600	Weak transcription	Osteobl	bone

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