Variant report

Variant	rs759269
Chromosome Location	chr7:27592347-27592348
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	chr7:27578194..27581554-chr7:27590667..27593383,3	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs1005128	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1009252	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014373	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015265	0.87[AMR][1000 genomes]
rs1015750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030003	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10447552	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1052724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052741	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807841	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951169	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951171	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951172	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951173	0.81[AMR][1000 genomes]
rs10951175	0.87[EUR][1000 genomes]
rs1111647	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115346	0.82[EUR][1000 genomes]
rs1115347	0.84[EUR][1000 genomes]
rs11526176	1.00[ASN][1000 genomes]
rs11762342	0.85[EUR][1000 genomes]
rs11763449	0.85[EUR][1000 genomes]
rs11767188	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973492	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12155430	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12530626	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12535844	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12537499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539707	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12540063	0.81[AMR][1000 genomes]
rs12540276	1.00[ASN][1000 genomes]
rs12665991	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12667235	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667610	0.85[EUR][1000 genomes]
rs12668430	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670415	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12670771	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12672811	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12673949	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12700813	1.00[ASN][1000 genomes]
rs12700815	1.00[ASN][1000 genomes]
rs12700817	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700819	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12700822	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12700823	0.81[AMR][1000 genomes]
rs12700824	0.81[AMR][1000 genomes]
rs13226102	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13227873	1.00[ASN][1000 genomes]
rs13242248	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13244903	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13246464	0.84[AMR][1000 genomes]
rs13308974	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1357760	1.00[ASN][1000 genomes]
rs1404276	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404278	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404282	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1524526	0.90[ASN][1000 genomes]
rs1524529	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1524530	1.00[ASN][1000 genomes]
rs1524531	1.00[ASN][1000 genomes]
rs1524532	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524533	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554641	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608663	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1608664	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851911	0.90[ASN][1000 genomes]
rs1851912	0.90[ASN][1000 genomes]
rs1851913	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880370	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980329	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980330	0.90[AMR][1000 genomes]
rs1986243	1.00[ASN][1000 genomes]
rs2037638	0.90[AMR][1000 genomes]
rs2041714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041715	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2080245	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080246	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091171	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098315	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098316	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110526	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110528	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391443	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391444	0.84[AMR][1000 genomes]
rs2391445	0.88[AMR][1000 genomes]
rs2391446	0.88[AMR][1000 genomes]
rs2391449	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391452	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2391453	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28416309	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28429439	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34886410	1.00[ASN][1000 genomes]
rs3847001	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925338	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140899	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42085	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4348389	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719898	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719899	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4719900	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719902	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722719	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722724	0.86[EUR][1000 genomes]
rs4722728	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56024263	0.82[EUR][1000 genomes]
rs56139857	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6415251	0.83[EUR][1000 genomes]
rs6462026	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462029	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462031	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462032	1.00[ASN][1000 genomes]
rs6462033	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6462034	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462036	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462037	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462038	0.85[EUR][1000 genomes]
rs6462039	0.81[AMR][1000 genomes]
rs6944610	0.80[EUR][1000 genomes]
rs6945993	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6946075	1.00[ASN][1000 genomes]
rs6947731	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948460	0.85[AMR][1000 genomes]
rs6948814	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949496	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954905	0.81[AMR][1000 genomes]
rs6955074	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956484	1.00[ASN][1000 genomes]
rs6957674	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958467	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6959126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6959495	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6960834	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963421	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6963585	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964190	1.00[ASN][1000 genomes]
rs6966091	0.81[AMR][1000 genomes]
rs6966587	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6966918	1.00[ASN][1000 genomes]
rs6970104	0.85[EUR][1000 genomes]
rs6974052	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974387	0.85[EUR][1000 genomes]
rs6974932	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6976178	0.80[AMR][1000 genomes]
rs6980382	0.94[AMR][1000 genomes];0.95[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]
rs759270	0.88[AMR][1000 genomes]
rs759271	0.88[AMR][1000 genomes]
rs7779240	1.00[ASN][1000 genomes]
rs7780431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783447	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786973	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7789788	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790498	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7794292	0.90[ASN][1000 genomes]
rs7806605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806812	0.85[EUR][1000 genomes]
rs7808275	0.81[AMR][1000 genomes]
rs7811436	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs940525	1.00[ASN][1000 genomes]
rs940526	1.00[ASN][1000 genomes]
rs961723	0.81[AMR][1000 genomes]
rs961724	0.81[AMR][1000 genomes]
rs961725	0.81[AMR][1000 genomes]
rs9639552	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639553	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639559	0.90[AMR][1000 genomes]
rs9639560	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974883	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs978447	0.99[AMR][1000 genomes];1.00[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs759269	HIBADH	cis	multi-tissue	Pritchard
rs759269	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
2	chr7:27559800-27593000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:27566800-27593200	Weak transcription	Lung	lung
4	chr7:27569600-27602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:27579000-27596000	Weak transcription	Right Ventricle	heart
6	chr7:27580600-27615000	Weak transcription	Aorta	Aorta
7	chr7:27581400-27594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:27581400-27600200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:27581400-27617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:27581600-27594400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:27581600-27600200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:27581600-27602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:27581800-27603000	Weak transcription	Fetal Lung	lung
14	chr7:27582200-27603000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
16	chr7:27582800-27592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:27582800-27592600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:27582800-27593000	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:27582800-27594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:27582800-27595400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:27582800-27600200	Weak transcription	NHDF-Ad	bronchial
22	chr7:27582800-27604800	Weak transcription	Fetal Kidney	kidney
23	chr7:27582800-27615000	Weak transcription	Placenta	Placenta
24	chr7:27582800-27615200	Weak transcription	Ovary	ovary
25	chr7:27583000-27593000	Weak transcription	Liver	Liver
26	chr7:27583200-27592800	Weak transcription	Fetal Intestine Small	intestine
27	chr7:27583200-27598800	Weak transcription	Fetal Intestine Large	intestine
28	chr7:27586800-27594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:27586800-27594400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:27587200-27594400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:27587400-27602600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:27587800-27600200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:27587800-27602600	Weak transcription	HSMM	muscle
34	chr7:27588600-27594800	Weak transcription	A549	lung
35	chr7:27588600-27596400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:27589400-27594200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:27589400-27594400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:27589600-27594400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:27590200-27594200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:27590200-27594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:27591400-27593400	Active TSS	Brain Cingulate Gyrus	brain
42	chr7:27591600-27593200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:27591600-27593400	Active TSS	Brain Anterior Caudate	brain
44	chr7:27591800-27593200	Active TSS	Brain Angular Gyrus	brain
45	chr7:27592000-27592600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:27592000-27593600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr7:27592200-27592400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:27592200-27592400	Enhancers	Brain Substantia Nigra	brain
49	chr7:27592200-27592800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:27592200-27593200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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