Variant report

Variant	rs72794121
Chromosome Location	chr5:112867162-112867163
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	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11747924	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748145	0.85[EUR][1000 genomes]
rs11748794	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12519323	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135630	0.81[ASN][1000 genomes]
rs17135753	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135754	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1833678	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2042222	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416281	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846722	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4122546	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705551	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705558	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705826	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57077871	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66490974	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66497221	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67020702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67103739	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67723806	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6859688	0.85[EUR][1000 genomes]
rs6861786	0.82[EUR][1000 genomes]
rs6864369	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6878001	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6882900	0.82[EUR][1000 genomes]
rs6883441	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6884704	0.88[ASN][1000 genomes]
rs6896469	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896501	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72805465	0.81[EUR][1000 genomes]
rs73241779	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73242809	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73247445	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7702833	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7707443	0.86[EUR][1000 genomes]
rs7729433	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs957777	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv969205	chr5:112860167-112867961	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112850400-112879200	Weak transcription	Gastric	stomach
3	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
4	chr5:112850600-112867600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:112850600-112868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
9	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
11	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
15	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:112856600-112867800	Weak transcription	HMEC	breast
17	chr5:112857000-112877600	Weak transcription	HepG2	liver
18	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
19	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:112861000-112869800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:112861400-112868600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:112861800-112869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:112862000-112867200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
29	chr5:112864400-112869600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112864800-112868000	ZNF genes & repeats	Dnd41	blood
31	chr5:112865200-112868800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr5:112865400-112867200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:112865400-112867400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr5:112865600-112867200	Strong transcription	Fetal Kidney	kidney
35	chr5:112865600-112867200	Strong transcription	K562	blood
36	chr5:112865600-112867600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:112865600-112867800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:112865600-112868000	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr5:112865600-112868800	ZNF genes & repeats	GM12878-XiMat	blood
40	chr5:112865600-112869000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112865800-112867400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr5:112865800-112867400	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr5:112866000-112868200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:112866200-112867400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:112866200-112868000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:112866200-112868000	ZNF genes & repeats	NHEK	skin
48	chr5:112866200-112868200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr5:112866200-112868200	ZNF genes & repeats	Fetal Lung	lung
50	chr5:112866400-112867400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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