Variant report

Variant	rs73721262
Chromosome Location	chr7:127581141-127581142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs55673039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.87[AFR][1000 genomes]
rs57683992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57866092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57918669	1.00[AMR][1000 genomes]
rs58368490	1.00[AMR][1000 genomes]
rs58659499	0.87[AFR][1000 genomes]
rs60776739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.87[AFR][1000 genomes]
rs60865612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951386	1.00[AMR][1000 genomes]
rs6956334	0.81[AFR][1000 genomes]
rs73721003	1.00[AMR][1000 genomes]
rs73721028	0.81[AFR][1000 genomes]
rs73721029	0.81[AFR][1000 genomes]
rs73721249	0.87[AFR][1000 genomes]
rs73721251	0.87[AFR][1000 genomes]
rs73721255	0.87[AFR][1000 genomes]
rs73721260	0.87[AFR][1000 genomes]
rs73721265	0.87[AFR][1000 genomes]
rs73721267	0.87[AFR][1000 genomes]
rs73721268	0.81[AFR][1000 genomes]
rs73721270	0.81[AFR][1000 genomes]
rs73721274	0.81[AFR][1000 genomes]
rs73721275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721283	1.00[AMR][1000 genomes]
rs73721284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.84[AFR][1000 genomes]
rs73723043	1.00[AMR][1000 genomes]
rs73723044	1.00[AMR][1000 genomes]
rs73723056	1.00[AMR][1000 genomes]
rs73723057	1.00[AMR][1000 genomes]
rs73723058	1.00[AMR][1000 genomes]
rs73723059	1.00[AMR][1000 genomes]
rs73723060	1.00[AMR][1000 genomes]
rs73723061	1.00[AMR][1000 genomes]
rs73723062	1.00[AMR][1000 genomes]
rs73723063	1.00[AMR][1000 genomes]
rs73723064	1.00[AMR][1000 genomes]
rs73723066	1.00[AMR][1000 genomes]
rs73723067	1.00[AMR][1000 genomes]
rs73723068	1.00[AMR][1000 genomes]
rs73723070	1.00[AMR][1000 genomes]
rs73723071	1.00[AMR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127562200-127589800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:127567600-127581400	Strong transcription	K562	blood
3	chr7:127568200-127583400	Weak transcription	Fetal Heart	heart
4	chr7:127568200-127594000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
6	chr7:127570000-127583800	Weak transcription	Psoas Muscle	Psoas
7	chr7:127570000-127585800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:127570000-127591400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:127570600-127584600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
11	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
12	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127570800-127583600	Weak transcription	Lung	lung
14	chr7:127570800-127589200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:127570800-127599600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:127571400-127583600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:127571400-127589800	Weak transcription	Fetal Stomach	stomach
21	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:127571600-127582000	Weak transcription	Hela-S3	cervix
23	chr7:127571600-127582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:127571600-127583600	Weak transcription	Right Ventricle	heart
25	chr7:127571600-127584800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:127571600-127594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:127571800-127583000	Weak transcription	Thymus	Thymus
29	chr7:127571800-127583600	Weak transcription	Brain Substantia Nigra	brain
30	chr7:127571800-127584000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:127571800-127602800	Weak transcription	Aorta	Aorta
32	chr7:127572000-127582800	Weak transcription	Adipose Nuclei	Adipose
33	chr7:127572000-127583600	Weak transcription	Placenta	Placenta
34	chr7:127572000-127584200	Weak transcription	Left Ventricle	heart
35	chr7:127572200-127583600	Weak transcription	Fetal Lung	lung
36	chr7:127572400-127582400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:127573000-127582400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127573200-127588600	Weak transcription	Ovary	ovary
39	chr7:127573800-127583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:127574400-127582400	Weak transcription	HUVEC	blood vessel
41	chr7:127574400-127587600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127576400-127582400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:127576400-127583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:127576400-127584200	Weak transcription	Right Atrium	heart
45	chr7:127576400-127589000	Weak transcription	Fetal Kidney	kidney
46	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
47	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:127577400-127588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:127577600-127582000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:127577600-127583600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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