Variant report

Variant	rs6462026
Chromosome Location	chr7:27562368-27562369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1005128	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1009252	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014373	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015265	0.83[AMR][1000 genomes]
rs1015750	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030003	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10447552	0.84[EUR][1000 genomes]
rs1052724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807841	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951169	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951171	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951172	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951175	0.85[EUR][1000 genomes]
rs1111647	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115346	0.81[EUR][1000 genomes]
rs1115347	0.82[EUR][1000 genomes]
rs11526176	1.00[ASN][1000 genomes]
rs11762342	0.84[EUR][1000 genomes]
rs11763449	0.84[EUR][1000 genomes]
rs11767188	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973492	0.84[EUR][1000 genomes]
rs12155430	0.84[EUR][1000 genomes]
rs12530626	0.81[EUR][1000 genomes]
rs12535844	0.83[EUR][1000 genomes]
rs12537499	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539707	0.90[EUR][1000 genomes]
rs12540276	1.00[ASN][1000 genomes]
rs12665991	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12667235	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667610	0.84[EUR][1000 genomes]
rs12668430	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670415	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12670771	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12672811	0.84[EUR][1000 genomes]
rs12673949	0.86[AMR][1000 genomes]
rs12700813	1.00[ASN][1000 genomes]
rs12700815	1.00[ASN][1000 genomes]
rs12700817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700819	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12700822	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13226102	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13227873	1.00[ASN][1000 genomes]
rs13242248	0.84[EUR][1000 genomes]
rs13244903	0.83[EUR][1000 genomes]
rs13308974	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1357760	1.00[ASN][1000 genomes]
rs1404276	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404278	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404282	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1524526	0.90[ASN][1000 genomes]
rs1524529	0.86[AMR][1000 genomes]
rs1524530	1.00[ASN][1000 genomes]
rs1524531	1.00[ASN][1000 genomes]
rs1524532	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524533	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608663	0.86[AMR][1000 genomes]
rs1608664	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851911	0.90[ASN][1000 genomes]
rs1851912	0.90[ASN][1000 genomes]
rs1851913	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880370	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980329	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980330	0.86[AMR][1000 genomes]
rs1986243	1.00[ASN][1000 genomes]
rs2037638	0.84[AMR][1000 genomes]
rs2041714	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041715	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2080245	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080246	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091171	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098315	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098316	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110528	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391443	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391445	0.82[AMR][1000 genomes]
rs2391446	0.82[AMR][1000 genomes]
rs2391449	0.82[EUR][1000 genomes]
rs2391452	0.84[EUR][1000 genomes]
rs2391453	0.83[EUR][1000 genomes]
rs28416309	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28429439	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34886410	1.00[ASN][1000 genomes]
rs3847001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925338	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140899	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42085	0.81[EUR][1000 genomes]
rs4348389	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719899	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4719900	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719902	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722719	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722724	0.85[EUR][1000 genomes]
rs4722728	0.81[EUR][1000 genomes]
rs56024263	0.81[EUR][1000 genomes]
rs56139857	0.84[EUR][1000 genomes]
rs6415251	0.81[EUR][1000 genomes]
rs6462029	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462031	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462032	1.00[ASN][1000 genomes]
rs6462033	0.86[AMR][1000 genomes]
rs6462034	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462036	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462037	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462038	0.84[EUR][1000 genomes]
rs6945993	0.84[EUR][1000 genomes]
rs6946075	1.00[ASN][1000 genomes]
rs6947731	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948814	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949496	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955074	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956484	1.00[ASN][1000 genomes]
rs6957674	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958467	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6959126	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6959495	0.81[EUR][1000 genomes]
rs6960834	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963421	0.83[EUR][1000 genomes]
rs6963585	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964190	1.00[ASN][1000 genomes]
rs6966587	0.82[EUR][1000 genomes]
rs6966918	1.00[ASN][1000 genomes]
rs6970104	0.84[EUR][1000 genomes]
rs6974052	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974387	0.84[EUR][1000 genomes]
rs6974932	0.83[EUR][1000 genomes]
rs6980382	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723699	1.00[ASN][1000 genomes]
rs723700	1.00[ASN][1000 genomes]
rs7455882	1.00[ASN][1000 genomes]
rs759269	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759270	0.82[AMR][1000 genomes]
rs759271	0.82[AMR][1000 genomes]
rs7779240	1.00[ASN][1000 genomes]
rs7780431	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783447	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786973	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7789788	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790498	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7794292	0.90[ASN][1000 genomes]
rs7806605	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806812	0.84[EUR][1000 genomes]
rs7811436	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs940525	1.00[ASN][1000 genomes]
rs940526	1.00[ASN][1000 genomes]
rs9639552	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639553	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639559	0.86[AMR][1000 genomes]
rs9639560	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974883	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs978447	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6462026	HIBADH	cis	multi-tissue	Pritchard
rs6462026	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27550600-27563400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:27551200-27563800	Weak transcription	Left Ventricle	heart
3	chr7:27551600-27563800	Weak transcription	Placenta	Placenta
4	chr7:27552600-27564800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:27552600-27568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:27553000-27563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:27553200-27581000	Weak transcription	Fetal Heart	heart
8	chr7:27553600-27564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:27553800-27564600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:27554400-27564000	Weak transcription	K562	blood
11	chr7:27555000-27568600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:27555800-27581000	Weak transcription	Gastric	stomach
13	chr7:27556000-27562800	Weak transcription	Aorta	Aorta
14	chr7:27556000-27563800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:27556000-27579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:27556000-27581600	Weak transcription	HMEC	breast
17	chr7:27556200-27564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:27556400-27564400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:27556400-27584400	Weak transcription	NHEK	skin
20	chr7:27556400-27586400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:27556600-27563800	Weak transcription	Fetal Kidney	kidney
22	chr7:27556600-27563800	Weak transcription	Dnd41	blood
23	chr7:27556600-27568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:27556600-27569000	Weak transcription	NHDF-Ad	bronchial
25	chr7:27556800-27568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:27557000-27564200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:27557200-27573400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:27557600-27564200	Enhancers	Fetal Lung	lung
29	chr7:27558000-27579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:27558200-27563600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:27558200-27563600	Weak transcription	Ovary	ovary
32	chr7:27558200-27563800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:27558200-27563800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:27558200-27564600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:27558200-27566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:27558400-27563800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:27558400-27563800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:27558400-27564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:27558400-27565200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:27558600-27563800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:27558600-27565200	Weak transcription	HepG2	liver
42	chr7:27558600-27566400	Weak transcription	Fetal Intestine Small	intestine
43	chr7:27558600-27568200	Weak transcription	Right Ventricle	heart
44	chr7:27558800-27563800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:27558800-27563800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:27559400-27564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:27559400-27584200	Weak transcription	Pancreas	Pancrea
48	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
49	chr7:27559600-27564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:27559800-27564400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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