Variant report

Variant	rs7790498
Chromosome Location	chr7:27653207-27653208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27646394..27648572-chr7:27650317..27653232,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1005128	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10081338	0.88[AMR][1000 genomes]
rs10081339	0.88[AMR][1000 genomes]
rs1009252	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1014373	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1015265	0.82[AMR][1000 genomes]
rs1015750	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1030003	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10447552	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10486548	0.88[AMR][1000 genomes]
rs1052724	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1052741	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10807841	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10951169	0.82[EUR][1000 genomes]
rs10951171	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10951172	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10951173	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10951175	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951176	0.93[ASN][1000 genomes]
rs1111647	0.82[EUR][1000 genomes]
rs1115346	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1115347	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762342	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11763449	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764753	0.88[AMR][1000 genomes]
rs11767188	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11973492	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155430	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12164139	1.00[ASN][1000 genomes]
rs12530626	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12531518	0.88[AMR][1000 genomes]
rs12531952	0.80[ASN][1000 genomes]
rs12535844	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12537499	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12539707	0.84[EUR][1000 genomes]
rs12540063	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12665991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667235	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12667610	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12668430	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12670415	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12670771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672811	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12700817	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12700819	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12700822	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12700823	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12700824	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12700825	0.88[AMR][1000 genomes]
rs12700828	0.88[AMR][1000 genomes]
rs12700829	0.88[AMR][1000 genomes]
rs12700830	0.88[AMR][1000 genomes]
rs13226102	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13242248	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13244903	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13246464	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13308974	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404276	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1404278	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1524526	0.87[ASN][1000 genomes]
rs1524532	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1524533	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1554641	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1608664	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1851913	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1880370	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1980329	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2041714	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2080245	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2080246	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2091171	0.83[EUR][1000 genomes]
rs2098315	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2098316	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2110526	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2110528	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160125	0.88[AMR][1000 genomes]
rs2391443	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2391445	0.83[AMR][1000 genomes]
rs2391446	0.83[AMR][1000 genomes]
rs2391447	0.88[AMR][1000 genomes]
rs2391448	0.84[AMR][1000 genomes]
rs2391449	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2391451	0.86[AMR][1000 genomes]
rs2391452	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391453	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391454	0.88[AMR][1000 genomes]
rs28416309	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28429439	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3847001	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3925338	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4140899	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs42085	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42087	0.88[AMR][1000 genomes]
rs42092	0.86[AMR][1000 genomes]
rs42111	0.87[EUR][1000 genomes]
rs4348389	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4719898	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4719900	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4719902	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4722719	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4722724	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722726	0.87[AMR][1000 genomes]
rs4722728	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56123216	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56139857	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58747588	1.00[ASN][1000 genomes]
rs6415251	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6462026	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6462029	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6462031	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6462034	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6462036	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6462037	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6462038	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462039	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6943883	0.87[AMR][1000 genomes]
rs6944610	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6945993	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6946305	0.85[AMR][1000 genomes]
rs6947731	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6948460	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948814	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6949496	0.84[EUR][1000 genomes]
rs6954905	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6955074	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6957378	0.88[AMR][1000 genomes]
rs6957674	0.83[EUR][1000 genomes]
rs6959126	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6959495	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6960834	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961429	0.80[ASN][1000 genomes]
rs6963421	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6963585	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6966091	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6966587	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6970104	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6974052	0.82[EUR][1000 genomes]
rs6974387	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6974932	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980382	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs759269	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs759270	0.83[AMR][1000 genomes]
rs759271	0.83[AMR][1000 genomes]
rs7778320	1.00[ASN][1000 genomes]
rs7779990	0.88[AMR][1000 genomes]
rs7780431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7782422	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7783447	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7789788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7794292	0.87[ASN][1000 genomes]
rs7805086	0.93[ASN][1000 genomes]
rs7806415	0.88[AMR][1000 genomes]
rs7806605	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7806812	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7808275	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7809748	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7811436	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs961723	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs961724	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs961725	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9639552	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9639553	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9639560	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs978447	0.86[AMR][1000 genomes];0.86[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	esv3418683	chr7:27651777-27653975	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7790498	HIBADH	cis	multi-tissue	Pritchard
rs7790498	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
2	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
3	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
18	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:27646800-27658800	Weak transcription	Osteobl	bone
23	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:27647000-27655800	Weak transcription	Ovary	ovary
25	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
27	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:27648600-27655600	Weak transcription	HepG2	liver
30	chr7:27648600-27659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:27648800-27657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:27648800-27658200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:27648800-27658200	Weak transcription	HSMMtube	muscle
34	chr7:27649000-27655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:27649000-27658400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:27649200-27655000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:27649200-27655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:27649200-27655600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:27649200-27655600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:27649200-27658000	Weak transcription	K562	blood
41	chr7:27649200-27659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:27649400-27654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:27649400-27655600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:27650000-27657000	Weak transcription	A549	lung
45	chr7:27650800-27654400	Weak transcription	HSMM	muscle
46	chr7:27651200-27655400	Weak transcription	Liver	Liver
47	chr7:27651200-27655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:27651200-27655600	Weak transcription	Fetal Lung	lung
49	chr7:27651200-27655600	Weak transcription	Left Ventricle	heart
50	chr7:27651200-27655800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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