Variant report

Variant	rs8090627
Chromosome Location	chr18:13521591-13521592
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	USF2	chr18:13521519-13521822	Hela-S3	cervix:	n/a	chr18:13521675-13521684 chr18:13521675-13521684 chr18:13521673-13521686 chr18:13521676-13521685 chr18:13521673-13521684 chr18:13521669-13521690

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNMT-4	chr18:13519726-13522887	NONHSAT058443
2	lnc-FAM210A-4	chr18:13519731-13522887	ENSG00000267136.1

Variant related genes	Relation type
ENSG00000272746	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13381731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2567168	0.85[ASN][1000 genomes]
rs2847114	0.93[ASN][1000 genomes]
rs3909688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8089675	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8090616	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs890472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs890473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs890474	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9965287	1.00[CHD][hapmap];1.00[JPT][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:59 , 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	chr18:13512200-13521600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:13513200-13526600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:13513200-13538200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:13513400-13523800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr18:13514000-13523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr18:13517000-13532400	Weak transcription	HepG2	liver
16	chr18:13517400-13525000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:13517600-13523200	Weak transcription	Primary B cells from cord blood	blood
18	chr18:13517600-13523600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:13517600-13523600	Weak transcription	Spleen	Spleen
20	chr18:13517600-13524800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:13517600-13526200	Weak transcription	Brain Germinal Matrix	brain
22	chr18:13517600-13526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:13517600-13532800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr18:13517600-13539000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:13517600-13539200	Weak transcription	Aorta	Aorta
26	chr18:13517800-13523000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:13517800-13525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:13517800-13530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr18:13518200-13525400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr18:13519000-13523600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr18:13519000-13525200	Weak transcription	Fetal Brain Female	brain
32	chr18:13519000-13527000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:13519000-13529200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr18:13519000-13530200	Weak transcription	Fetal Lung	lung
35	chr18:13519200-13522400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr18:13519200-13523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:13519400-13521800	Weak transcription	Liver	Liver
38	chr18:13519400-13522400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr18:13519400-13527000	Weak transcription	Fetal Stomach	stomach
40	chr18:13520000-13522800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr18:13520000-13523000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr18:13520200-13521800	Enhancers	Right Atrium	heart
43	chr18:13520200-13522200	Weak transcription	Dnd41	blood
44	chr18:13520200-13522600	Weak transcription	Primary T cells from cord blood	blood
45	chr18:13520200-13522600	Enhancers	Psoas Muscle	Psoas
46	chr18:13520400-13522000	Enhancers	Fetal Muscle Leg	muscle
47	chr18:13520400-13529200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:13520600-13524800	Weak transcription	Fetal Heart	heart
49	chr18:13520600-13530400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr18:13520800-13521600	Enhancers	Right Ventricle	heart

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