Variant report

Variant	rs72738589
Chromosome Location	chr1:192989594-192989595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10489686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801170	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10921331	1.00[AFR][1000 genomes]
rs12118724	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123511	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132305	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134846	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12136893	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145609	1.00[AFR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes]
rs2887640	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35221108	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56022114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670264	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6685991	1.00[AFR][1000 genomes]
rs72738588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes]
rs72740246	1.00[AFR][1000 genomes]
rs7544830	0.86[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	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
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv3966	chr1:192976457-193004886	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:192963800-192990000	Weak transcription	HMEC	breast
4	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
6	chr1:192963800-193012400	Weak transcription	NHEK	skin
7	chr1:192963800-193019600	Weak transcription	Ovary	ovary
8	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
10	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
14	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:192972800-192991200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:192972800-192991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:192973200-192992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:192975400-192991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:192977600-192992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:192977600-193005200	Weak transcription	A549	lung
23	chr1:192979000-192990600	Weak transcription	Liver	Liver
24	chr1:192979000-192994400	Weak transcription	HepG2	liver
25	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:192980600-192990600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:192981200-192994600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:192981400-192994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:192982200-192991200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:192982400-192996400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:192982600-192992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:192982600-192995800	Weak transcription	Fetal Intestine Large	intestine
34	chr1:192982600-193002400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:192983000-192991200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:192983000-192991400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:192983000-193017800	Weak transcription	HSMMtube	muscle
38	chr1:192983200-192991200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:192983200-192994400	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:192983200-192995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:192983200-192996400	Weak transcription	Fetal Stomach	stomach
42	chr1:192983200-193000000	Weak transcription	Right Ventricle	heart
43	chr1:192983200-193012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:192983200-193018000	Weak transcription	Pancreas	Pancrea
45	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
46	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
47	chr1:192983800-192990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:192983800-192991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:192983800-192995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:192984000-192994000	Weak transcription	NH-A	brain

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