Variant report

Variant	rs58917399
Chromosome Location	chr18:13525722-13525723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:13525706-13525972	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr18:13525703-13526039	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr18:13525682-13526106	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr18:13525712-13526039	A549	lung:	n/a	n/a
5	RAD21	chr18:13525556-13526175	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:13525610-13526067	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000267136	TF binding region
ENSG00000272746	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58025644	1.00[AMR][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	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:13499600-13539200	Weak transcription	Gastric	stomach
3	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:13507000-13536400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:13511600-13530400	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:13513200-13526600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr18:13513200-13538200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:13517000-13532400	Weak transcription	HepG2	liver
11	chr18:13517600-13526200	Weak transcription	Brain Germinal Matrix	brain
12	chr18:13517600-13526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:13517600-13532800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:13517600-13539000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:13517600-13539200	Weak transcription	Aorta	Aorta
16	chr18:13517800-13530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr18:13519000-13527000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:13519000-13529200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:13519000-13530200	Weak transcription	Fetal Lung	lung
20	chr18:13519400-13527000	Weak transcription	Fetal Stomach	stomach
21	chr18:13520400-13529200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr18:13520600-13530400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr18:13521200-13530200	Weak transcription	Adipose Nuclei	Adipose
24	chr18:13521400-13526800	Weak transcription	Brain Substantia Nigra	brain
25	chr18:13521400-13530400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:13521600-13539200	Weak transcription	Colonic Mucosa	Colon
27	chr18:13522000-13530000	Weak transcription	Fetal Muscle Leg	muscle
28	chr18:13522200-13535000	Strong transcription	Dnd41	blood
29	chr18:13522600-13529600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr18:13522800-13526600	Weak transcription	Brain Anterior Caudate	brain
31	chr18:13523200-13525800	Genic enhancers	Fetal Thymus	thymus
32	chr18:13523200-13527400	Strong transcription	Primary B cells from cord blood	blood
33	chr18:13523800-13526000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:13524000-13527600	Enhancers	Fetal Brain Male	brain
35	chr18:13524000-13536400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:13524000-13548400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr18:13524400-13530400	Strong transcription	Primary T cells from cord blood	blood
38	chr18:13524600-13526000	Enhancers	Left Ventricle	heart
39	chr18:13524800-13527600	Strong transcription	Spleen	Spleen
40	chr18:13524800-13530800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr18:13524800-13533000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13524800-13534000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:13525000-13525800	Enhancers	Psoas Muscle	Psoas
44	chr18:13525000-13528000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr18:13525000-13528000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:13525200-13525800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:13525200-13527000	Enhancers	Fetal Brain Female	brain
48	chr18:13525200-13528200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr18:13525200-13529400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:13525400-13525800	Strong transcription	Primary monocytes fromperipheralblood	blood

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