Variant report

Variant	rs11762342
Chromosome Location	chr7:27661933-27661934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1005128	0.87[EUR][1000 genomes]
rs10081338	0.81[AMR][1000 genomes]
rs10081339	0.81[AMR][1000 genomes]
rs1009252	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1014373	0.84[EUR][1000 genomes]
rs1015750	0.85[EUR][1000 genomes]
rs1030003	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10447552	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486548	0.81[AMR][1000 genomes]
rs1052724	0.84[EUR][1000 genomes]
rs1052741	0.82[EUR][1000 genomes]
rs10807841	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10951169	0.81[EUR][1000 genomes]
rs10951171	0.87[EUR][1000 genomes]
rs10951172	0.86[EUR][1000 genomes]
rs10951173	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10951175	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951176	1.00[ASN][1000 genomes]
rs1111647	0.81[EUR][1000 genomes]
rs1115346	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115347	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764753	0.81[AMR][1000 genomes]
rs11766457	0.80[ASN][1000 genomes]
rs11767188	0.85[EUR][1000 genomes]
rs11973492	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111584	0.81[EUR][1000 genomes]
rs12155430	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12164139	0.93[ASN][1000 genomes]
rs12530626	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12531518	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12531952	0.87[ASN][1000 genomes]
rs12535844	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537499	0.85[EUR][1000 genomes]
rs12539707	0.82[EUR][1000 genomes]
rs12540063	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12665991	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667235	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12667610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668430	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12670415	0.86[EUR][1000 genomes]
rs12670771	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12672811	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700817	0.85[EUR][1000 genomes]
rs12700819	0.85[EUR][1000 genomes]
rs12700822	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12700823	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700824	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700825	0.81[AMR][1000 genomes]
rs12700828	0.81[AMR][1000 genomes]
rs12700829	0.81[AMR][1000 genomes]
rs12700830	0.81[AMR][1000 genomes]
rs13226102	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13242248	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244903	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246464	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13308974	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1404276	0.85[EUR][1000 genomes]
rs1404278	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1524526	0.81[ASN][1000 genomes]
rs1524532	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1524533	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1554641	0.85[EUR][1000 genomes]
rs1608664	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1851913	0.84[EUR][1000 genomes]
rs1880370	0.85[EUR][1000 genomes]
rs1980329	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2041714	0.84[EUR][1000 genomes]
rs2080245	0.84[EUR][1000 genomes]
rs2080246	0.82[EUR][1000 genomes]
rs2091171	0.82[EUR][1000 genomes]
rs2098315	0.84[EUR][1000 genomes]
rs2098316	0.82[EUR][1000 genomes]
rs2110526	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2110528	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2160125	0.81[AMR][1000 genomes]
rs2391443	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2391447	0.81[AMR][1000 genomes]
rs2391449	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2391452	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391453	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391454	0.81[AMR][1000 genomes]
rs28416309	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28429439	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3847001	0.82[EUR][1000 genomes]
rs3925338	0.85[EUR][1000 genomes]
rs4140899	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs42085	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs42087	0.81[AMR][1000 genomes]
rs42111	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4348389	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4719898	0.84[EUR][1000 genomes]
rs4719900	0.84[EUR][1000 genomes]
rs4719902	0.85[EUR][1000 genomes]
rs4722719	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4722724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4722728	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123216	0.94[ASN][1000 genomes]
rs56139857	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58747588	0.93[ASN][1000 genomes]
rs6415251	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6462026	0.84[EUR][1000 genomes]
rs6462029	0.84[EUR][1000 genomes]
rs6462031	0.85[EUR][1000 genomes]
rs6462034	0.84[EUR][1000 genomes]
rs6462036	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462037	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6462038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462039	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6944610	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6945993	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947731	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6948460	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948814	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6949496	0.82[EUR][1000 genomes]
rs6954905	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6955074	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6957378	0.81[AMR][1000 genomes]
rs6957674	0.82[EUR][1000 genomes]
rs6959126	0.86[EUR][1000 genomes]
rs6959495	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960834	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6961429	0.87[ASN][1000 genomes]
rs6963421	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963585	0.85[EUR][1000 genomes]
rs6966091	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6966587	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974052	0.81[EUR][1000 genomes]
rs6974387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974932	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980382	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs759269	0.85[EUR][1000 genomes]
rs7778320	0.93[ASN][1000 genomes]
rs7779990	0.81[AMR][1000 genomes]
rs7780431	0.85[EUR][1000 genomes]
rs7782422	0.82[EUR][1000 genomes]
rs7783447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7789788	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7790498	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794292	0.81[ASN][1000 genomes]
rs7805086	1.00[ASN][1000 genomes]
rs7806415	0.81[AMR][1000 genomes]
rs7806605	0.88[EUR][1000 genomes]
rs7806812	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808275	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7809748	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7811436	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs961723	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs961724	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs961725	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9639552	0.84[EUR][1000 genomes]
rs9639553	0.84[EUR][1000 genomes]
rs9639560	0.87[EUR][1000 genomes]
rs978447	0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11762342	HIBADH	cis	multi-tissue	Pritchard
rs11762342	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 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	chr7:27657400-27662600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr7:27658400-27662000	ZNF genes & repeats	Dnd41	blood
7	chr7:27658800-27687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:27658800-27688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:27659800-27672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:27659800-27675400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:27659800-27679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:27660000-27664400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:27660000-27667600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:27660000-27669800	Weak transcription	Left Ventricle	heart
15	chr7:27660000-27680600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:27660200-27668000	Weak transcription	Osteobl	bone
17	chr7:27660200-27674600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:27660400-27668600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:27660400-27675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:27660400-27680200	Weak transcription	Fetal Kidney	kidney
21	chr7:27660600-27666600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:27660600-27667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:27660600-27674800	Weak transcription	Psoas Muscle	Psoas
24	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
25	chr7:27660800-27668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:27660800-27675600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:27660800-27676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:27661000-27666000	Weak transcription	Placenta	Placenta
29	chr7:27661000-27666000	Weak transcription	A549	lung
30	chr7:27661000-27666400	Weak transcription	Adipose Nuclei	Adipose
31	chr7:27661000-27666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:27661000-27666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:27661000-27666600	Weak transcription	HSMM	muscle
34	chr7:27661000-27667400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:27661000-27675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:27661000-27675400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:27661000-27679600	Weak transcription	HSMMtube	muscle
38	chr7:27661000-27680600	Weak transcription	HepG2	liver
39	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:27661200-27662200	Weak transcription	Fetal Lung	lung
41	chr7:27661200-27667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:27661200-27675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:27661400-27666600	Weak transcription	Liver	Liver
45	chr7:27661400-27668600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:27661400-27669800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:27661400-27670000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:27661400-27675200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:27661400-27688800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:27661400-27700800	Weak transcription	Thymus	Thymus

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