Variant report

Variant	rs73412466
Chromosome Location	chr15:45747791-45747792
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	TCF12	chr15:45746800-45747909	SK-N-SH	brain:	n/a	chr15:45747508-45747518
2	NFIC	chr15:45746811-45747836	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr15:45746771-45747880	SK-N-SH	brain:	n/a	chr15:45747508-45747518
4	POLR2A	chr15:45746881-45747816	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45745258..45747507-chr15:45747517..45749111,2	MCF-7	breast:
2	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
3	chr15:45737247..45739664-chr15:45747415..45750054,2	K562	blood:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000252285	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1005072	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153836	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153837	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153839	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153840	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153841	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153842	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153843	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1153844	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288647	1.00[EUR][1000 genomes]
rs1288848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288849	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288850	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288851	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288853	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288854	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288855	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288856	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288858	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288859	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288864	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295500	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295501	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426933	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426934	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547488	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547489	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547490	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559891	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559892	1.00[EUR][1000 genomes]
rs1629849	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629871	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648875	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943587	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16943691	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16943731	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16944196	1.00[EUR][1000 genomes]
rs1768457	1.00[EUR][1000 genomes]
rs1820519	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1834689	1.00[EUR][1000 genomes]
rs1834691	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059661	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059662	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412958	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433613	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433614	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433615	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433622	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433623	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433624	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433626	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433627	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433628	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453515	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2453516	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453517	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453520	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453521	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467861	1.00[EUR][1000 genomes]
rs2467874	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467875	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467876	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467879	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467880	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467882	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467883	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467884	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467885	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467886	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467887	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467888	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2467889	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486279	1.00[EUR][1000 genomes]
rs2486283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486284	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57255527	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57421622	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58694071	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493153	1.00[EUR][1000 genomes]
rs73410550	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410575	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410577	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412436	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412437	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412438	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412440	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412443	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412445	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412447	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412449	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412452	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412453	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412454	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412456	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412457	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412459	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412460	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412462	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412463	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412467	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412470	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73412473	1.00[EUR][1000 genomes]
rs73412479	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412484	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412488	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412490	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73414454	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8034420	1.00[EUR][1000 genomes]
rs937323	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937324	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937325	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672808	1.00[EUR][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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv442701	chr15:45737096-45748752	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45744200-45748400	Weak transcription	Lung	lung
2	chr15:45744800-45748600	Weak transcription	Fetal Intestine Small	intestine
3	chr15:45745200-45749800	Weak transcription	Liver	Liver
4	chr15:45746000-45747800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr15:45746000-45750000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:45746000-45750000	Enhancers	Stomach Mucosa	stomach
7	chr15:45746200-45749800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:45746200-45750000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:45746200-45750000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:45746200-45750000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:45746200-45750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:45746200-45750800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr15:45746400-45748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:45746400-45749800	Enhancers	Primary B cells from cord blood	blood
15	chr15:45746400-45749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:45746400-45750000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:45746400-45750000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:45746400-45750000	Enhancers	Placenta	Placenta
19	chr15:45746600-45749000	Enhancers	Thymus	Thymus
20	chr15:45746600-45749800	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:45746600-45750000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr15:45746600-45750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:45746600-45750000	Enhancers	HSMM	muscle
24	chr15:45746800-45747800	Enhancers	Primary T cells from cord blood	blood
25	chr15:45746800-45747800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:45746800-45747800	Enhancers	Adipose Nuclei	Adipose
27	chr15:45746800-45747800	Enhancers	Fetal Thymus	thymus
28	chr15:45746800-45747800	Active TSS	Rectal Smooth Muscle	rectum
29	chr15:45746800-45747800	Flanking Active TSS	A549	lung
30	chr15:45746800-45747800	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:45746800-45747800	Flanking Active TSS	Hela-S3	cervix
32	chr15:45746800-45747800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr15:45746800-45747800	Flanking Active TSS	Osteobl	bone
34	chr15:45746800-45748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:45746800-45749400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr15:45746800-45750000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:45746800-45750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:45746800-45750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:45746800-45750000	Enhancers	NHDF-Ad	bronchial
40	chr15:45746800-45750400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:45747000-45747800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:45747000-45747800	Enhancers	Fetal Muscle Leg	muscle
43	chr15:45747000-45747800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr15:45747000-45748400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:45747000-45748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:45747000-45750000	Weak transcription	Fetal Heart	heart
47	chr15:45747200-45748000	Enhancers	HSMMtube	muscle
48	chr15:45747200-45748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr15:45747200-45748600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:45747200-45748600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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