Variant report

Variant	rs72740259
Chromosome Location	chr1:193236606-193236607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494675	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801186	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10921331	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119992	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123793	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124921	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141559	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17528639	0.94[EUR][1000 genomes]
rs17592633	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28930673	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	0.97[EUR][1000 genomes]
rs6663374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	0.86[EUR][1000 genomes]
rs6685991	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740227	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740261	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817137	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3436652	chr1:193234354-193236902	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377374	chr1:193234704-193236677	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
4	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
7	chr1:193218200-193236800	Weak transcription	A549	lung
8	chr1:193218400-193239200	Weak transcription	Osteobl	bone
9	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
10	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:193227800-193237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:193228200-193236800	Weak transcription	Fetal Thymus	thymus
18	chr1:193228400-193237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:193228400-193239200	Weak transcription	Aorta	Aorta
20	chr1:193228400-193239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:193229600-193239200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:193229600-193240800	Weak transcription	Gastric	stomach
26	chr1:193230000-193236800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:193231200-193236800	Weak transcription	Fetal Lung	lung
28	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:193232000-193237200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
31	chr1:193232200-193238800	Weak transcription	Primary B cells from cord blood	blood
32	chr1:193232200-193239400	Weak transcription	HSMMtube	muscle
33	chr1:193232200-193239600	Weak transcription	NHLF	lung
34	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
35	chr1:193234000-193237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:193234000-193239400	Weak transcription	NH-A	brain
37	chr1:193234000-193239800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:193235200-193240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:193235400-193237000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:193235400-193237600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:193235400-193239400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:193235400-193240200	Weak transcription	GM12878-XiMat	blood
43	chr1:193235400-193242200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:193235400-193243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:193235600-193237400	Weak transcription	HSMM	muscle

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