Variant report

Variant	rs777014
Chromosome Location	chr3:47907719-47907720
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	chr3:47877782..47879462-chr3:47906492..47908037,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1013431	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1060407	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061003	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130150	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11130152	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11130154	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1137524	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11707679	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11710199	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13074973	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13075457	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13075795	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13077230	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13093830	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1530646	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1550914	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1665982	0.82[EUR][1000 genomes]
rs1684942	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17290490	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs184388	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2053767	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2121754	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2166770	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2166772	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631721	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28637561	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2882668	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs319680	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs319681	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs319682	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319684	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319685	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319686	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319687	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319688	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs319689	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319690	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319691	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319692	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs319694	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs319696	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34025851	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34750113	0.89[EUR][1000 genomes]
rs35199727	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35314534	0.82[EUR][1000 genomes]
rs35582375	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35943823	0.81[EUR][1000 genomes]
rs3732529	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772399	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3888	0.82[ASN][1000 genomes]
rs3915654	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4293721	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4296617	0.82[EUR][1000 genomes]
rs4392441	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4599334	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858860	0.82[ASN][1000 genomes]
rs4858871	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4858887	0.81[EUR][1000 genomes]
rs5012971	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60446735	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442090	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442091	0.82[EUR][1000 genomes]
rs6770467	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6770477	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6772396	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6773208	0.87[ASN][1000 genomes]
rs6783629	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6806820	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7374516	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7426976	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7427418	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7429990	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7430879	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7430913	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7619882	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7627645	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7649981	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653368	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs777015	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777017	0.92[EUR][1000 genomes]
rs796566	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs800762	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs810334	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9811277	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9812875	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9814961	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9842649	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9846062	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9854454	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9862913	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
2	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs777014	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs777014	MRPS18AP1	cis	Nerve Tibial	GTEx
rs777014	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs777014	ZNF589	cis	Nerve Tibial	GTEx
rs777014	MRPS18AP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
5	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
6	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47878800-47908400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:47884600-47918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:47885000-47914800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:47889800-47910000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:47889800-47912600	Weak transcription	Fetal Heart	heart
13	chr3:47891000-47908400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:47891200-47908600	Weak transcription	Fetal Kidney	kidney
15	chr3:47891400-47909600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:47891400-47912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:47894200-47912200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:47894800-47917400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:47894800-47919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:47896600-47919600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:47896800-47913200	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:47899000-47908400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:47899000-47908400	Weak transcription	Stomach Mucosa	stomach
24	chr3:47899000-47908600	Weak transcription	Hela-S3	cervix
25	chr3:47899000-47910800	Weak transcription	Fetal Brain Male	brain
26	chr3:47899000-47911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:47899000-47919000	Weak transcription	Right Atrium	heart
28	chr3:47902200-47908400	Weak transcription	Fetal Lung	lung
29	chr3:47903800-47915800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:47904000-47915000	Strong transcription	Ovary	ovary
31	chr3:47904000-47915600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:47904000-47918600	Strong transcription	Osteobl	bone
33	chr3:47904200-47913600	Strong transcription	Brain Germinal Matrix	brain
34	chr3:47904200-47915400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:47904200-47917400	Strong transcription	HSMM	muscle
36	chr3:47904200-47917400	Strong transcription	NH-A	brain
37	chr3:47904200-47917600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:47904200-47918600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:47904400-47909400	Strong transcription	Left Ventricle	heart
40	chr3:47904400-47912400	Strong transcription	Fetal Intestine Large	intestine
41	chr3:47904400-47915200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:47904400-47916400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:47904600-47912800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:47904600-47915000	Strong transcription	Colon Smooth Muscle	Colon
45	chr3:47904600-47918600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:47904600-47918800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:47904600-47919000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:47904800-47909200	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:47904800-47909400	Strong transcription	Placenta	Placenta
50	chr3:47904800-47913000	Strong transcription	Gastric	stomach

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