Variant report

Variant	rs7545118
Chromosome Location	chr1:46071323-46071324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:46071266-46071526	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45986118..45988566-chr1:46070732..46072707,2	K562	blood:
2	chr1:46048568..46053199-chr1:46070794..46073826,5	K562	blood:
3	chr1:45985746..45988873-chr1:46066734..46072707,7	K562	blood:

Variant related genes	Relation type
NASP	TF binding region
ENSG00000117450	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10430105	0.83[AMR][1000 genomes]
rs10749856	0.81[AMR][1000 genomes]
rs10789467	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10789468	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10789470	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1084086	0.82[AMR][1000 genomes]
rs10890333	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890334	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890335	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890336	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890337	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10890340	0.85[AMR][1000 genomes]
rs10890341	0.83[AMR][1000 genomes]
rs10890342	0.82[AMR][1000 genomes]
rs10890343	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10890344	0.81[AMR][1000 genomes]
rs11211142	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11211145	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211146	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211147	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211149	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211151	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211152	0.88[AMR][1000 genomes]
rs11211157	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11211158	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11211159	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11211161	0.83[AMR][1000 genomes]
rs11211162	0.83[AMR][1000 genomes]
rs11211163	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11211165	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11211166	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11211168	0.81[AMR][1000 genomes]
rs11211169	0.81[AMR][1000 genomes]
rs11211170	0.81[AMR][1000 genomes]
rs1135812	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1135850	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12022673	0.84[AMR][1000 genomes]
rs12023439	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12024590	0.85[AMR][1000 genomes]
rs12025613	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12027622	0.85[AMR][1000 genomes]
rs12037459	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12037803	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12041197	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12041677	0.83[AMR][1000 genomes]
rs12043945	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12045096	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12045451	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12047629	0.81[AMR][1000 genomes]
rs12048866	0.85[AMR][1000 genomes]
rs12049027	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12070775	0.85[AMR][1000 genomes]
rs12081175	0.85[AMR][1000 genomes]
rs12091503	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1250	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1541131	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1547924	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1547925	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1972410	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2050376	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2152078	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2230657	0.84[ASN][1000 genomes]
rs2230658	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230659	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253862	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2275085	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2275086	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2991976	0.81[AMR][1000 genomes]
rs2991977	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2991978	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2991979	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2991981	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2991983	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2991985	0.88[ASN][1000 genomes]
rs2991986	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2991987	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2991988	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2991989	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3013595	0.81[ASN][1000 genomes]
rs3013596	0.81[ASN][1000 genomes]
rs3013597	0.81[ASN][1000 genomes]
rs3014210	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3014212	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3014213	0.82[AMR][1000 genomes]
rs3014234	0.83[AMR][1000 genomes]
rs3014235	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3014236	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3014237	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3014238	0.86[ASN][1000 genomes]
rs3014239	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3014240	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3014242	0.87[AMR][1000 genomes]
rs3014245	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3014246	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3014248	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3014249	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3014251	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811435	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3811436	0.85[AMR][1000 genomes]
rs4415615	0.82[AMR][1000 genomes]
rs4431884	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4439382	0.83[AMR][1000 genomes]
rs4468203	0.82[ASN][1000 genomes]
rs4559551	0.81[AMR][1000 genomes]
rs4564187	0.81[AMR][1000 genomes]
rs4586014	0.83[AMR][1000 genomes]
rs4607935	0.85[AMR][1000 genomes]
rs4609469	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4660312	0.82[ASN][1000 genomes]
rs4660313	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4660879	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4660880	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4660882	0.82[ASN][1000 genomes]
rs5021934	0.82[ASN][1000 genomes]
rs518216	0.80[ASN][1000 genomes]
rs563799	0.83[AMR][1000 genomes]
rs61784793	0.83[AMR][1000 genomes]
rs61784795	0.83[AMR][1000 genomes]
rs61784796	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6429574	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6429575	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs659437	0.80[ASN][1000 genomes]
rs6656279	0.81[ASN][1000 genomes]
rs6658700	0.81[AMR][1000 genomes]
rs6665808	0.80[ASN][1000 genomes]
rs66682726	0.82[AMR][1000 genomes]
rs6671802	0.81[ASN][1000 genomes]
rs6690926	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6694889	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6699418	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6699444	0.83[AMR][1000 genomes]
rs6703748	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688483	0.81[ASN][1000 genomes]
rs7529699	0.85[AMR][1000 genomes]
rs7547414	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8179296	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8179402	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9429171	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9429172	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9793568	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
3	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7545118	MAST2	cis	Thyroid	GTEx
rs7545118	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs7545118	GPBP1L1	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
2	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
3	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:46055200-46090400	Strong transcription	Dnd41	blood
14	chr1:46055800-46071600	Weak transcription	Left Ventricle	heart
15	chr1:46056000-46079000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:46056200-46071800	Weak transcription	Fetal Brain Male	brain
17	chr1:46056800-46073400	Weak transcription	Right Ventricle	heart
18	chr1:46056800-46074000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:46057000-46072600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:46057400-46073000	Weak transcription	Gastric	stomach
21	chr1:46057400-46081600	Weak transcription	Psoas Muscle	Psoas
22	chr1:46057800-46072200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:46060800-46076200	Weak transcription	Esophagus	oesophagus
24	chr1:46061000-46072600	Weak transcription	Ovary	ovary
25	chr1:46061000-46072800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:46061000-46073000	Weak transcription	Aorta	Aorta
27	chr1:46061000-46073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:46061000-46073200	Weak transcription	Pancreas	Pancrea
29	chr1:46061000-46073200	Weak transcription	Spleen	Spleen
30	chr1:46061000-46076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:46061000-46078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:46061400-46072000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:46061400-46073200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:46061400-46073200	Weak transcription	Lung	lung
35	chr1:46061600-46072200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:46061600-46072600	Weak transcription	HSMMtube	muscle
37	chr1:46061600-46075200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:46061600-46075200	Weak transcription	Colonic Mucosa	Colon
39	chr1:46061800-46071800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:46062400-46072400	Weak transcription	HUVEC	blood vessel
41	chr1:46062400-46074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:46062600-46074200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:46062800-46071600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:46063800-46071600	Weak transcription	Fetal Kidney	kidney
45	chr1:46064800-46072000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:46066400-46073200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:46066600-46075000	Weak transcription	Fetal Heart	heart
48	chr1:46066800-46084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:46066800-46086800	Strong transcription	K562	blood
50	chr1:46067000-46086400	Strong transcription	H1 Cell Line	embryonic stem cell

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