Variant report

Variant	rs72707530
Chromosome Location	chr15:43645820-43645821
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43645456..43647561-chr15:43650775..43652983,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10518812	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12899865	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12900259	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12905220	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12906017	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12906481	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12907870	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12908460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12911569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12911740	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12913977	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12914122	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16957680	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16957715	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16957730	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17723479	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17780417	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1814324	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2230451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34002293	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34178146	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34181131	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34212866	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34515241	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34591748	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34633582	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34657657	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34661349	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34697113	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34715468	0.85[AMR][1000 genomes]
rs34767197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34860428	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34921640	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35158584	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35160541	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35278805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35311230	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35326382	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35681736	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35903301	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35958032	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35975365	0.93[EUR][1000 genomes]
rs35992154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36078097	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs514438	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55748552	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55801120	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60018990	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62019432	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62019442	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62020574	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62020575	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62021176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62021180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66629206	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7048	0.90[AFR][1000 genomes]
rs71476435	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7168220	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7173383	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7176923	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7177146	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7177892	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7180812	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7181545	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7181634	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7181783	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7182292	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7183708	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709850	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709879	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8027748	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs72707530	TGM7	cis	Esophagus Mucosa	GTEx
rs72707530	ZSCAN29	cis	Esophagus Muscularis	GTEx
rs72707530	LCMT2	cis	Esophagus Mucosa	GTEx
rs72707530	TUBGCP4	cis	Artery Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43623200-43651000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:43623200-43651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:43623200-43651600	Weak transcription	Pancreas	Pancrea
4	chr15:43623400-43649200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:43623400-43650400	Weak transcription	Fetal Brain Male	brain
6	chr15:43623400-43651000	Weak transcription	Gastric	stomach
7	chr15:43623400-43651000	Weak transcription	Small Intestine	intestine
8	chr15:43623400-43653200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:43623600-43646000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:43623600-43646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:43623600-43646600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:43623600-43646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:43623600-43650400	Weak transcription	NH-A	brain
14	chr15:43623600-43650800	Weak transcription	HMEC	breast
15	chr15:43623600-43650800	Weak transcription	NHLF	lung
16	chr15:43623600-43651000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:43623600-43651000	Weak transcription	A549	lung
18	chr15:43623600-43653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:43623800-43646000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:43624000-43647000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:43625600-43647200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:43628400-43650400	Weak transcription	Primary B cells from cord blood	blood
23	chr15:43629000-43646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:43629200-43651000	Weak transcription	NHDF-Ad	bronchial
25	chr15:43630200-43650200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:43630400-43650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:43630800-43650600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:43631600-43650400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:43631800-43651000	Weak transcription	Esophagus	oesophagus
30	chr15:43633200-43650600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:43633800-43650800	Weak transcription	Osteobl	bone
32	chr15:43634000-43651000	Weak transcription	Aorta	Aorta
33	chr15:43635200-43646600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:43635400-43651000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:43637200-43647200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:43637400-43646200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:43638000-43646400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:43639000-43646000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:43639800-43650400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:43640400-43651000	Weak transcription	Fetal Kidney	kidney
41	chr15:43641000-43646000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr15:43641000-43647200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:43641200-43646400	Strong transcription	Fetal Muscle Leg	muscle
44	chr15:43641200-43652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:43641400-43650200	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:43641400-43650600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:43641600-43649800	Weak transcription	Placenta	Placenta
48	chr15:43641600-43652800	Weak transcription	Hela-S3	cervix
49	chr15:43641800-43646600	Strong transcription	Fetal Stomach	stomach
50	chr15:43642000-43646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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