Variant report

Variant	rs8099189
Chromosome Location	chr18:13523316-13523317
allele	G/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	chr18:13523311-13523391	GM19239	blood:	n/a	n/a
2	CTCF	chr18:13523311-13523416	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr18:13523200-13523350	HBMEC	blood vessel:	n/a	n/a
4	RAD21	chr18:13523176-13523430	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr18:13523218-13523321	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:13523166-13523462	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr18:13523282-13523394	GM12892	blood:	n/a	n/a
8	CTCF	chr18:13523300-13523450	WERI-Rb-1	eye:	n/a	n/a
9	RAD21	chr18:13523160-13523496	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr18:13523270-13523403	GM19238	blood:	n/a	n/a
11	RAD21	chr18:13523246-13523458	HepG2	liver:	n/a	n/a
12	CTCF	chr18:13523260-13523410	HUVEC	blood vessel:	n/a	n/a
13	RAD21	chr18:13523082-13523465	H1-hESC	embryonic stem cell:	n/a	n/a

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6505823	0.89[CHB][hapmap]
rs9957909	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv1827877	chr18:13511622-13523462	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 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	chr18:13501600-13525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:13502800-13525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:13507000-13536400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:13511600-13530400	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:13513200-13526600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:13513200-13538200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:13513400-13523800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr18:13514000-13523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr18:13517000-13532400	Weak transcription	HepG2	liver
15	chr18:13517400-13525000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr18:13517600-13523600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:13517600-13523600	Weak transcription	Spleen	Spleen
18	chr18:13517600-13524800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:13517600-13526200	Weak transcription	Brain Germinal Matrix	brain
20	chr18:13517600-13526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:13517600-13532800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr18:13517600-13539000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:13517600-13539200	Weak transcription	Aorta	Aorta
24	chr18:13517800-13525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:13517800-13530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr18:13518200-13525400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr18:13519000-13523600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr18:13519000-13525200	Weak transcription	Fetal Brain Female	brain
29	chr18:13519000-13527000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:13519000-13529200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr18:13519000-13530200	Weak transcription	Fetal Lung	lung
32	chr18:13519200-13523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:13519400-13527000	Weak transcription	Fetal Stomach	stomach
34	chr18:13520400-13529200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:13520600-13524800	Weak transcription	Fetal Heart	heart
36	chr18:13520600-13530400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr18:13521200-13524600	Weak transcription	Left Ventricle	heart
38	chr18:13521200-13530200	Weak transcription	Adipose Nuclei	Adipose
39	chr18:13521400-13526800	Weak transcription	Brain Substantia Nigra	brain
40	chr18:13521400-13530400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr18:13521600-13524800	Weak transcription	Right Ventricle	heart
42	chr18:13521600-13539200	Weak transcription	Colonic Mucosa	Colon
43	chr18:13521800-13523400	Strong transcription	Liver	Liver
44	chr18:13522000-13530000	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:13522200-13535000	Strong transcription	Dnd41	blood
46	chr18:13522400-13524000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr18:13522400-13524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr18:13522600-13523400	Strong transcription	Primary T cells from cord blood	blood
49	chr18:13522600-13525000	Weak transcription	Psoas Muscle	Psoas
50	chr18:13522600-13529600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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