Variant report

Variant	rs4121593
Chromosome Location	chr18:13511819-13511820
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10163734	0.83[JPT][hapmap]
rs12458741	0.82[JPT][hapmap]
rs12604898	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12607174	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12955640	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1648584	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1648585	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1648586	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1648587	0.82[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs1648588	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1648599	0.82[CEU][hapmap]
rs1785151	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1785152	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs1785181	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1785205	0.91[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1940914	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1940915	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1940916	0.91[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1940918	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1940921	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2027683	0.82[JPT][hapmap]
rs2163445	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28415200	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2847114	0.81[EUR][1000 genomes]
rs28553871	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28767549	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3097643	0.91[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3132835	0.91[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4121594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4796988	0.86[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6505819	0.83[JPT][hapmap]
rs7229109	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7230189	0.82[JPT][hapmap]
rs7233826	0.86[EUR][1000 genomes]
rs7234676	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7239669	0.83[JPT][hapmap]
rs7240391	0.91[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7240795	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7240858	0.87[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs7241010	0.83[JPT][hapmap]
rs7241766	0.82[JPT][hapmap]
rs7505922	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8091352	0.82[JPT][hapmap]
rs9952307	0.91[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9955173	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs9958211	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9958308	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9958406	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9958516	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9958760	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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:55 , 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	chr18:13499800-13514200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:13500000-13516800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:13500400-13517400	Weak transcription	Spleen	Spleen
7	chr18:13501400-13518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:13501600-13525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:13502800-13525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:13503000-13517000	Weak transcription	Adipose Nuclei	Adipose
12	chr18:13503000-13519200	Weak transcription	Pancreas	Pancrea
13	chr18:13503200-13514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr18:13503200-13517200	Weak transcription	Fetal Lung	lung
15	chr18:13503200-13521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr18:13503400-13512200	Weak transcription	Liver	Liver
17	chr18:13503400-13517400	Weak transcription	Aorta	Aorta
18	chr18:13503800-13512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:13506000-13515600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr18:13507000-13516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr18:13507000-13536400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:13508200-13512000	Enhancers	Psoas Muscle	Psoas
24	chr18:13509400-13512000	Weak transcription	Primary B cells from cord blood	blood
25	chr18:13509400-13513000	Weak transcription	Left Ventricle	heart
26	chr18:13509400-13513000	Weak transcription	Right Atrium	heart
27	chr18:13510200-13513600	Enhancers	Primary T cells from cord blood	blood
28	chr18:13510200-13515600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:13510600-13514000	Enhancers	Fetal Heart	heart
30	chr18:13510800-13512400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:13510800-13513000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:13510800-13514200	Enhancers	Primary hematopoietic stem cells	blood
33	chr18:13511000-13512000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr18:13511000-13513800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr18:13511000-13514000	Genic enhancers	Fetal Thymus	thymus
36	chr18:13511000-13514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:13511000-13515000	Enhancers	Fetal Muscle Leg	muscle
38	chr18:13511200-13512800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr18:13511200-13512800	Weak transcription	Dnd41	blood
40	chr18:13511200-13513000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr18:13511200-13513200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13511200-13513200	Enhancers	Thymus	Thymus
43	chr18:13511400-13513000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr18:13511600-13512000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:13511600-13512400	Enhancers	HUVEC	blood vessel
46	chr18:13511600-13512600	Enhancers	Primary B cells from peripheral blood	blood
47	chr18:13511600-13513200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr18:13511600-13513200	Enhancers	Brain Substantia Nigra	brain
49	chr18:13511600-13530400	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:13511800-13512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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