Variant report

Variant	rs2391448
Chromosome Location	chr7:27678185-27678186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10081338	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10081339	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015265	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10447552	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10486548	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951173	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951175	0.81[EUR][1000 genomes]
rs11764753	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11973492	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12155430	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12530626	0.82[AMR][1000 genomes]
rs12531518	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535844	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12540063	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665991	0.84[AMR][1000 genomes]
rs12670771	0.84[AMR][1000 genomes]
rs12672811	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12673949	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12700823	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12700824	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700825	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700828	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700830	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242248	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13244903	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13246464	0.85[AMR][1000 genomes]
rs1404282	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1524529	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1608663	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1980330	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2041715	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160125	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391444	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391445	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391446	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391447	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391449	0.81[AMR][1000 genomes]
rs2391451	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391452	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2391453	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2391454	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42085	0.86[AMR][1000 genomes]
rs42087	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42088	0.82[ASN][1000 genomes]
rs42092	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42098	0.82[ASN][1000 genomes]
rs4722726	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4722728	0.86[AMR][1000 genomes]
rs56123216	0.81[AMR][1000 genomes]
rs56139857	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462033	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6462039	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943883	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945993	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6946305	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948460	0.86[AMR][1000 genomes]
rs6954905	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957378	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959495	0.86[AMR][1000 genomes]
rs6963421	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6966091	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966587	0.86[AMR][1000 genomes]
rs6974932	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs759270	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs759271	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7779990	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782422	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786973	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7790498	0.84[AMR][1000 genomes]
rs7806415	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808275	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961723	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs961724	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs961725	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9639559	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs974883	0.83[AMR][1000 genomes];0.84[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2391448	HIBADH	cis	multi-tissue	Pritchard
rs2391448	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs2391448	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27654400-27696400	Weak transcription	Gastric	stomach
2	chr7:27658800-27687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27658800-27688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:27659800-27679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:27660000-27680600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:27660400-27680200	Weak transcription	Fetal Kidney	kidney
7	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
8	chr7:27661000-27679600	Weak transcription	HSMMtube	muscle
9	chr7:27661000-27680600	Weak transcription	HepG2	liver
10	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:27661400-27688800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
14	chr7:27661600-27681000	Weak transcription	NHEK	skin
15	chr7:27661800-27680200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:27661800-27681400	Weak transcription	Pancreas	Pancrea
17	chr7:27661800-27686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:27661800-27692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:27661800-27694400	Weak transcription	Lung	lung
20	chr7:27662400-27686800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:27662600-27688200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:27662800-27688000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:27664400-27680400	Weak transcription	NH-A	brain
24	chr7:27664600-27681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:27664800-27688200	Weak transcription	K562	blood
26	chr7:27665000-27680400	Weak transcription	NHDF-Ad	bronchial
27	chr7:27665000-27681000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:27665000-27686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:27665600-27680000	Weak transcription	HUVEC	blood vessel
30	chr7:27666200-27683200	Weak transcription	Esophagus	oesophagus
31	chr7:27667000-27680800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:27667200-27686000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:27668400-27687400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:27668600-27686800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:27668800-27679000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:27669400-27680200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:27670400-27679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:27670400-27681000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:27670400-27686200	Weak transcription	Fetal Stomach	stomach
40	chr7:27671000-27679600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:27671400-27701600	Weak transcription	Spleen	Spleen
42	chr7:27671600-27680000	Weak transcription	HSMM	muscle
43	chr7:27671600-27680200	Weak transcription	NHLF	lung
44	chr7:27673000-27679600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:27673400-27679000	Weak transcription	Fetal Intestine Small	intestine
46	chr7:27673600-27679000	Weak transcription	Fetal Intestine Large	intestine
47	chr7:27674000-27700800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:27674600-27680800	Weak transcription	Left Ventricle	heart
49	chr7:27674800-27686800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:27674800-27695200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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