Variant report

Variant	rs72794386
Chromosome Location	chr5:127479278-127479279
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127477463..127479784-chr5:127489454..127492343,3	K562	blood:
2	chr1:217409270..217409986-chr5:127479273..127479788,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089	0.86[AFR][1000 genomes]
rs10478797	0.91[ASN][1000 genomes]
rs10519971	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13357283	0.94[ASN][1000 genomes]
rs17164310	0.90[AFR][1000 genomes]
rs17164395	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17839658	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3805603	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805608	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805610	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828656	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835944	0.82[AFR][1000 genomes]
rs56657382	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57249773	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887674	0.86[AFR][1000 genomes]
rs72792276	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72792279	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794361	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72794370	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72794379	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794392	0.93[AFR][1000 genomes]
rs72794396	0.93[AFR][1000 genomes]
rs72794401	0.82[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127423600-127494000	Weak transcription	K562	blood
2	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
3	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
4	chr5:127445200-127480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:127445400-127491800	Weak transcription	Psoas Muscle	Psoas
6	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
7	chr5:127451400-127490600	Weak transcription	Aorta	Aorta
8	chr5:127451600-127488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:127451800-127488600	Weak transcription	Osteobl	bone
10	chr5:127451800-127490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:127452000-127490400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127453600-127493800	Weak transcription	Liver	Liver
13	chr5:127453600-127525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:127454400-127493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
16	chr5:127457800-127487800	Weak transcription	Stomach Mucosa	stomach
17	chr5:127457800-127489400	Weak transcription	NHEK	skin
18	chr5:127460800-127525200	Weak transcription	Spleen	Spleen
19	chr5:127461200-127488400	Weak transcription	HSMMtube	muscle
20	chr5:127461600-127480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:127464200-127488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:127464400-127489800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:127464800-127497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:127465400-127486800	Weak transcription	GM12878-XiMat	blood
26	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:127467000-127489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:127467200-127500600	Weak transcription	Esophagus	oesophagus
29	chr5:127467600-127480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:127467600-127490200	Weak transcription	Lung	lung
31	chr5:127467600-127491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127467600-127525000	Weak transcription	Thymus	Thymus
33	chr5:127467800-127488800	Weak transcription	Fetal Intestine Small	intestine
34	chr5:127467800-127508000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:127468000-127489600	Weak transcription	Fetal Stomach	stomach
36	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
37	chr5:127468400-127480200	Weak transcription	Brain Angular Gyrus	brain
38	chr5:127468400-127480200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:127468800-127493800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:127469200-127524200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:127469800-127480600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:127469800-127504200	Weak transcription	Fetal Heart	heart
43	chr5:127471000-127483800	Weak transcription	HSMM	muscle
44	chr5:127471200-127515200	Weak transcription	Brain Germinal Matrix	brain
45	chr5:127471800-127499800	Weak transcription	NHLF	lung
46	chr5:127472400-127498800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:127473000-127488200	Weak transcription	HMEC	breast
48	chr5:127473400-127480000	Weak transcription	Brain Substantia Nigra	brain
49	chr5:127473400-127482200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:127473400-127487400	Weak transcription	Primary hematopoietic stem cells	blood

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