Variant report

Variant	rs72731066
Chromosome Location	chr1:193104989-193104990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
2	chr1:193082431..193083952-chr1:193102861..193105016,2	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10494675	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10801186	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122868	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12123069	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12123750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123793	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12124921	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12124924	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12128125	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129126	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12135148	0.90[AFR][1000 genomes]
rs12135670	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137391	0.90[AFR][1000 genomes]
rs12141029	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141336	0.90[AFR][1000 genomes]
rs12141559	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12143361	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12143573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145761	0.90[AFR][1000 genomes]
rs1325196	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17526825	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17592121	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17592633	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17593120	0.90[AFR][1000 genomes]
rs28930673	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28930674	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6663374	0.90[AFR][1000 genomes]
rs6667917	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6682904	0.83[EUR][1000 genomes]
rs72731058	0.97[EUR][1000 genomes]
rs72731068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72740227	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72740228	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72740230	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72740261	0.90[AFR][1000 genomes]
rs72740270	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193108000	Weak transcription	Gastric	stomach
2	chr1:193092600-193109400	Weak transcription	Esophagus	oesophagus
3	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
5	chr1:193093800-193105800	Weak transcription	Right Atrium	heart
6	chr1:193093800-193109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
9	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:193094200-193112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
14	chr1:193094400-193109600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:193094600-193108600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:193094600-193110400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
18	chr1:193095000-193109000	Weak transcription	Spleen	Spleen
19	chr1:193095000-193124400	Strong transcription	Dnd41	blood
20	chr1:193095200-193108800	Weak transcription	Pancreas	Pancrea
21	chr1:193096000-193105600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:193098000-193105800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:193098800-193110800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:193098800-193111000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:193098800-193112200	Strong transcription	HSMM	muscle
27	chr1:193099000-193108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:193099000-193108000	Weak transcription	Fetal Stomach	stomach
29	chr1:193099000-193108800	Weak transcription	Lung	lung
30	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:193099200-193112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:193100000-193109000	Weak transcription	Right Ventricle	heart
33	chr1:193100000-193115000	Weak transcription	Fetal Brain Male	brain
34	chr1:193100400-193105200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:193100800-193107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:193101000-193108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:193101000-193115400	Weak transcription	Psoas Muscle	Psoas
38	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:193101400-193105000	Weak transcription	Thymus	Thymus
40	chr1:193101400-193105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:193101400-193105400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:193101400-193108600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:193101400-193111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
45	chr1:193101600-193105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:193101600-193105000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:193101600-193105000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:193101600-193105000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:193101600-193105000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:193101600-193105000	Weak transcription	Fetal Intestine Large	intestine

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