Variant report

Variant	rs73926130
Chromosome Location	chr2:40446063-40446064
allele	C/T
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	MAFK	chr2:40445789-40446158	HepG2	liver:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974
2	MAFK	chr2:40445822-40446132	K562	blood:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974
3	MAFK	chr2:40445787-40446158	IMR90	lung:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974
4	MAFK	chr2:40445787-40446160	HepG2	liver:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974
5	STAT3	chr2:40445887-40446134	MCF10A-Er-Src	breast:	n/a	chr2:40445980-40445991 chr2:40445982-40445990
6	MAFF	chr2:40445787-40446159	HepG2	liver:	n/a	chr2:40445961-40445979
7	POLR2A	chr2:40445795-40446265	SK-N-MC	brain:	n/a	n/a
8	STAT3	chr2:40445930-40446106	MCF10A-Er-Src	breast:	n/a	chr2:40445980-40445991 chr2:40445982-40445990
9	MAFK	chr2:40445783-40446133	H1-hESC	embryonic stem cell:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974
10	FOXP2	chr2:40445900-40446147	SK-N-MC	brain:	n/a	n/a
11	MAFF	chr2:40445794-40446149	K562	blood:	n/a	chr2:40445961-40445979
12	POLR2A	chr2:40445861-40446338	SK-N-MC	brain:	n/a	n/a
13	MAFK	chr2:40445798-40446151	Hela-S3	cervix:	n/a	chr2:40445964-40445975 chr2:40445963-40445979 chr2:40445963-40445978 chr2:40445962-40445976 chr2:40445964-40445975 chr2:40445963-40445974 chr2:40445963-40445974

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10153786	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10167744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167955	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175778	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176352	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176641	1.00[ASN][1000 genomes]
rs10183585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199306	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202413	0.91[EUR][1000 genomes]
rs10207018	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207038	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490207	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884718	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884732	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885401	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887546	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887643	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891508	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891921	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894296	1.00[ASN][1000 genomes]
rs11894882	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895025	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899204	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11903986	1.00[ASN][1000 genomes]
rs12329007	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006841	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13383126	1.00[ASN][1000 genomes]
rs13384452	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385280	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389962	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398048	1.00[ASN][1000 genomes]
rs13398809	1.00[ASN][1000 genomes]
rs13400484	1.00[ASN][1000 genomes]
rs13403847	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13408531	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414508	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13428581	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428681	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366424	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1428574	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025234	1.00[ASN][1000 genomes]
rs17025260	1.00[ASN][1000 genomes]
rs17025271	1.00[ASN][1000 genomes]
rs17025453	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025510	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025570	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025628	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038992	1.00[ASN][1000 genomes]
rs17570537	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896712	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033230	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041827	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28380530	1.00[ASN][1000 genomes]
rs28660667	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374153	1.00[ASN][1000 genomes]
rs390579	1.00[ASN][1000 genomes]
rs400673	1.00[ASN][1000 genomes]
rs405416	1.00[ASN][1000 genomes]
rs423177	1.00[ASN][1000 genomes]
rs440387	1.00[ASN][1000 genomes]
rs56092525	0.92[EUR][1000 genomes]
rs6704907	1.00[ASN][1000 genomes]
rs6720270	1.00[ASN][1000 genomes]
rs6728644	1.00[ASN][1000 genomes]
rs6729089	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758015	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760003	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71439287	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924568	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924573	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73926129	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927124	1.00[ASN][1000 genomes]
rs741320	1.00[ASN][1000 genomes]
rs7562916	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563045	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563290	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567178	1.00[ASN][1000 genomes]
rs7570501	1.00[ASN][1000 genomes]
rs7570522	1.00[ASN][1000 genomes]
rs7575693	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583602	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589951	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601672	1.00[ASN][1000 genomes]
rs7601991	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602006	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602342	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602377	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605482	1.00[ASN][1000 genomes]
rs7607992	1.00[ASN][1000 genomes]
rs9309053	1.00[ASN][1000 genomes]
rs9653516	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40437200-40453200	Weak transcription	Right Ventricle	heart
3	chr2:40438000-40447200	Weak transcription	Fetal Brain Male	brain
4	chr2:40440600-40447400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:40441600-40446200	Weak transcription	NHDF-Ad	bronchial
6	chr2:40441600-40447400	Weak transcription	Left Ventricle	heart
7	chr2:40445000-40446400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:40445000-40447400	Weak transcription	NHLF	lung
9	chr2:40445200-40446200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:40445200-40446200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:40445200-40448200	Enhancers	Fetal Heart	heart
12	chr2:40445600-40446200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:40445600-40446600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:40445600-40448200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:40445800-40446200	Enhancers	Brain Germinal Matrix	brain
16	chr2:40445800-40446200	Enhancers	Fetal Kidney	kidney
17	chr2:40445800-40446200	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:40445800-40446400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:40445800-40446400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:40445800-40446400	Enhancers	Adipose Nuclei	Adipose
21	chr2:40445800-40446400	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:40445800-40446400	Enhancers	Ovary	ovary
23	chr2:40445800-40446400	Enhancers	HMEC	breast
24	chr2:40445800-40446600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:40445800-40446600	Enhancers	Fetal Lung	lung
26	chr2:40445800-40446600	Enhancers	Fetal Stomach	stomach
27	chr2:40445800-40446600	Enhancers	Dnd41	blood
28	chr2:40445800-40447800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:40445800-40447800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:40445800-40448000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:40445800-40448200	Enhancers	Colon Smooth Muscle	Colon
32	chr2:40446000-40446200	Enhancers	Psoas Muscle	Psoas
33	chr2:40446000-40446200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:40446000-40446400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:40446000-40446400	Enhancers	Fetal Intestine Large	intestine
36	chr2:40446000-40446400	Enhancers	Fetal Muscle Leg	muscle
37	chr2:40446000-40446400	Enhancers	Right Atrium	heart
38	chr2:40446000-40446600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:40446000-40446600	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:40446000-40446800	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:40446000-40447600	Enhancers	HSMMtube	muscle
42	chr2:40446000-40448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:40446000-40448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:40446000-40448000	Enhancers	Osteobl	bone
45	chr2:40446000-40448200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:40446000-40448200	Enhancers	HSMM	muscle

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