Variant report

Variant	rs484350
Chromosome Location	chr18:39664104-39664105
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11659568	0.89[EUR][1000 genomes]
rs11660388	0.89[EUR][1000 genomes]
rs11660513	0.89[EUR][1000 genomes]
rs12327365	0.89[EUR][1000 genomes]
rs12709716	0.84[EUR][1000 genomes]
rs12954202	0.87[EUR][1000 genomes]
rs1557419	0.89[EUR][1000 genomes]
rs1787173	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1788988	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1944967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2096896	0.90[EUR][1000 genomes]
rs2096897	0.90[EUR][1000 genomes]
rs2105680	0.90[EUR][1000 genomes]
rs3932738	0.90[EUR][1000 genomes]
rs3932739	0.90[EUR][1000 genomes]
rs4121811	0.87[EUR][1000 genomes]
rs4447506	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs477256	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500086	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503472	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs511605	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs514227	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs515626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517864	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs519465	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs523425	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs524793	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs525399	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs52911	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs530113	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531258	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs533028	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs535626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs536139	0.90[EUR][1000 genomes]
rs555734	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs559231	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs573835	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs577955	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582268	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs584380	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs587686	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590912	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs593248	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs600658	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs609301	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs620052	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs620344	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs622612	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs622939	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625896	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs627636	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs629481	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs638763	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs639656	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647512	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs649610	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664338	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs681048	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693020	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237998	0.84[EUR][1000 genomes]
rs948871	0.86[EUR][1000 genomes]
rs948872	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1057988	chr18:39618253-39713904	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1065792	chr18:39619676-39711798	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1057790	chr18:39621947-39705550	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2762006	chr18:39621947-39713916	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv1063952	chr18:39621947-39718600	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1064973	chr18:39623604-39711798	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv833631	chr18:39633503-39824091	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
4	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:39612200-39666400	Weak transcription	Gastric	stomach
6	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
7	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:39620800-39664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr18:39628600-39666200	Weak transcription	A549	lung
10	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:39644200-39674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:39644600-39665000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr18:39644800-39664200	Strong transcription	Liver	Liver
14	chr18:39644800-39665000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:39648200-39665400	Weak transcription	Spleen	Spleen
16	chr18:39648200-39666400	Weak transcription	Thymus	Thymus
17	chr18:39648200-39668200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:39649200-39665600	Weak transcription	HepG2	liver
19	chr18:39649200-39674600	Weak transcription	Fetal Intestine Small	intestine
20	chr18:39649600-39664400	Strong transcription	HSMM	muscle
21	chr18:39650400-39665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr18:39650600-39664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:39653000-39666200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:39653000-39683400	Weak transcription	Aorta	Aorta
25	chr18:39653400-39665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:39653400-39668000	Weak transcription	Pancreas	Pancrea
27	chr18:39653600-39669600	Weak transcription	NHLF	lung
28	chr18:39654000-39669600	Weak transcription	HSMMtube	muscle
29	chr18:39655800-39664200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:39655800-39665000	Strong transcription	GM12878-XiMat	blood
31	chr18:39656400-39664200	Strong transcription	Adipose Nuclei	Adipose
32	chr18:39656400-39664400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:39657000-39664200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr18:39657600-39669600	Weak transcription	Lung	lung
35	chr18:39657800-39664400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:39657800-39666200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:39657800-39666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr18:39657800-39668200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:39657800-39669000	Weak transcription	Fetal Brain Female	brain
40	chr18:39659000-39664600	Weak transcription	Small Intestine	intestine
41	chr18:39659000-39666400	Weak transcription	Hela-S3	cervix
42	chr18:39659000-39667600	Weak transcription	Colon Smooth Muscle	Colon
43	chr18:39659000-39668800	Weak transcription	Fetal Kidney	kidney
44	chr18:39659400-39664400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:39659400-39667200	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:39659600-39666400	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:39659800-39664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:39659800-39665400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:39659800-39668000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:39659800-39668200	Weak transcription	Brain Substantia Nigra	brain

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