Variant report

Variant	rs35582375
Chromosome Location	chr3:47871129-47871130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47871108..47875546-chr3:47876904..47881221,5	K562	blood:
2	chr3:47820608..47822821-chr3:47870608..47873437,2	K562	blood:
3	chr3:47867135..47871638-chr3:47884570..47887611,4	K562	blood:

Variant related genes	Relation type
ENSG00000132153	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1013431	0.83[ASN][1000 genomes]
rs1060407	0.81[ASN][1000 genomes]
rs1061003	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11130145	0.82[AMR][1000 genomes]
rs11130146	0.83[AMR][1000 genomes]
rs11130147	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11130148	0.84[EUR][1000 genomes]
rs11130150	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130152	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11130154	0.86[AFR][1000 genomes]
rs1137524	0.92[ASN][1000 genomes]
rs11707679	0.81[ASN][1000 genomes]
rs11708849	0.87[EUR][1000 genomes]
rs11710199	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11712464	0.84[EUR][1000 genomes]
rs11714942	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11927129	0.84[EUR][1000 genomes]
rs12495204	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12498027	0.81[AMR][1000 genomes]
rs13063042	0.81[AMR][1000 genomes]
rs13064183	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13070035	0.82[EUR][1000 genomes]
rs13074973	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13075457	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13075795	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13077230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079407	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13081356	0.82[AMR][1000 genomes]
rs13086149	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13091913	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13093830	0.81[ASN][1000 genomes]
rs13094264	0.84[EUR][1000 genomes]
rs13098128	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1486915	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1550914	0.85[ASN][1000 genomes]
rs1684942	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17079785	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17290490	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184388	0.90[ASN][1000 genomes]
rs2030596	0.81[AFR][1000 genomes]
rs2047559	0.85[AFR][1000 genomes]
rs2053767	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2101398	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2121754	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2133601	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2140335	0.83[AMR][1000 genomes]
rs2166770	0.85[ASN][1000 genomes]
rs2166772	0.83[ASN][1000 genomes]
rs2631721	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28637561	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2882668	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs319680	0.93[AFR][1000 genomes]
rs319681	0.82[ASN][1000 genomes]
rs319682	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs319684	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs319685	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs319686	0.92[ASN][1000 genomes]
rs319687	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs319688	0.82[AFR][1000 genomes]
rs319689	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs319690	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs319691	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs319692	0.94[ASN][1000 genomes]
rs319693	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319694	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319695	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319696	0.92[ASN][1000 genomes]
rs34025851	0.92[ASN][1000 genomes]
rs34249203	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34351471	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34569417	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34777284	0.82[EUR][1000 genomes]
rs34906469	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35148469	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35199727	0.81[ASN][1000 genomes]
rs35698005	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3732529	0.92[ASN][1000 genomes]
rs3772399	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3888	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3915654	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4293721	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4599334	0.82[ASN][1000 genomes]
rs4858846	0.81[AMR][1000 genomes]
rs4858851	0.83[EUR][1000 genomes]
rs4858853	0.86[EUR][1000 genomes]
rs4858857	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4858860	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858863	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858871	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5012971	0.83[AFR][1000 genomes]
rs55823596	0.87[EUR][1000 genomes]
rs56376646	0.84[EUR][1000 genomes]
rs60446735	0.92[ASN][1000 genomes]
rs61181421	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62263561	0.87[EUR][1000 genomes]
rs62263575	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442074	0.81[AMR][1000 genomes]
rs6442079	0.84[EUR][1000 genomes]
rs6442081	0.84[EUR][1000 genomes]
rs6442082	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6442083	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6442085	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6442086	0.88[EUR][1000 genomes]
rs6442090	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6768699	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6770467	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6770477	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6772301	0.81[AMR][1000 genomes]
rs6772396	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6773208	0.85[ASN][1000 genomes]
rs6776963	0.89[EUR][1000 genomes]
rs6777632	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6783629	0.91[ASN][1000 genomes]
rs6785669	0.83[EUR][1000 genomes]
rs6786001	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6792350	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6792497	0.80[AFR][1000 genomes]
rs6792737	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6806820	0.85[ASN][1000 genomes]
rs6806860	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72906488	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73085151	0.87[EUR][1000 genomes]
rs7374516	0.85[ASN][1000 genomes]
rs7426976	0.83[ASN][1000 genomes]
rs7427418	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7430879	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7430913	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7612219	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7618758	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7619882	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7627645	0.83[AFR][1000 genomes]
rs7629850	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7637372	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7637950	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7638103	0.84[EUR][1000 genomes]
rs7645846	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7649393	0.84[EUR][1000 genomes]
rs7649981	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7653368	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs777014	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs777015	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs777017	0.82[ASN][1000 genomes]
rs796566	0.92[ASN][1000 genomes]
rs800762	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs810334	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9757517	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9811277	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9812875	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9814961	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9842649	0.88[ASN][1000 genomes]
rs9846062	0.85[ASN][1000 genomes]
rs9850154	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9854454	0.85[ASN][1000 genomes]
rs9862913	0.83[ASN][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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs35582375	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs35582375	MRPS18AP1	cis	Nerve Tibial	GTEx
rs35582375	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs35582375	ZNF589	cis	Nerve Tibial	GTEx
rs35582375	DHX30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47873400	Weak transcription	Fetal Brain Male	brain
2	chr3:47867800-47882000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:47867800-47882000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:47867800-47882400	Weak transcription	Small Intestine	intestine
5	chr3:47867800-47882400	Weak transcription	Stomach Mucosa	stomach
6	chr3:47867800-47882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:47867800-47899200	Strong transcription	Fetal Brain Female	brain
8	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:47868000-47882200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:47868000-47882800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:47868000-47903000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:47868200-47871400	Strong transcription	A549	lung
14	chr3:47868200-47872000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:47868200-47878600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:47868200-47879400	Weak transcription	Right Atrium	heart
17	chr3:47868200-47882000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:47868200-47882800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr3:47868200-47892200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:47868200-47902400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:47868400-47871400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr3:47868400-47871400	Strong transcription	NH-A	brain
23	chr3:47868400-47874200	Strong transcription	Brain Angular Gyrus	brain
24	chr3:47868400-47876400	Strong transcription	Brain Substantia Nigra	brain
25	chr3:47868400-47881800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:47868400-47882000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr3:47868400-47882000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:47868400-47884400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:47868400-47891000	Strong transcription	Fetal Muscle Leg	muscle
30	chr3:47868400-47891200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:47868400-47891400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:47868400-47899200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:47868400-47901200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:47868400-47902400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:47868400-47903000	Strong transcription	Placenta	Placenta
36	chr3:47868400-47903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:47868400-47903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
40	chr3:47868600-47871200	Strong transcription	NHDF-Ad	bronchial
41	chr3:47868600-47873000	Strong transcription	Aorta	Aorta
42	chr3:47868600-47873200	Strong transcription	Brain Hippocampus Middle	brain
43	chr3:47868600-47874400	Strong transcription	Ovary	ovary
44	chr3:47868600-47876200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:47868600-47879400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:47868600-47880800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:47868600-47882400	Weak transcription	Fetal Heart	heart
48	chr3:47868600-47893600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:47868600-47899000	Strong transcription	Thymus	Thymus
50	chr3:47868600-47899200	Strong transcription	Primary monocytes fromperipheralblood	blood

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