Variant report

Variant	rs575366
Chromosome Location	chr18:39652824-39652825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10502776	1.00[CEU][hapmap]
rs1142044	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11873469	1.00[EUR][1000 genomes]
rs11873602	1.00[EUR][1000 genomes]
rs11874766	1.00[EUR][1000 genomes]
rs11874775	1.00[EUR][1000 genomes]
rs11874814	1.00[EUR][1000 genomes]
rs11874830	1.00[EUR][1000 genomes]
rs11876547	1.00[EUR][1000 genomes]
rs11876578	1.00[EUR][1000 genomes]
rs11877901	1.00[EUR][1000 genomes]
rs1540057	1.00[EUR][1000 genomes]
rs16975441	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16975447	1.00[EUR][1000 genomes]
rs16975463	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975466	1.00[EUR][1000 genomes]
rs16975521	1.00[EUR][1000 genomes]
rs2469471	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490578	1.00[EUR][1000 genomes]
rs493100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55655849	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563840	1.00[EUR][1000 genomes]
rs56411890	1.00[EUR][1000 genomes]
rs56751463	1.00[EUR][1000 genomes]
rs56979511	1.00[EUR][1000 genomes]
rs57208863	1.00[EUR][1000 genomes]
rs58298297	1.00[EUR][1000 genomes]
rs583163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58390786	1.00[EUR][1000 genomes]
rs584022	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586797	1.00[EUR][1000 genomes]
rs58881642	1.00[EUR][1000 genomes]
rs591870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593689	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910026	0.87[AMR][1000 genomes]
rs606366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608428	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616575	1.00[EUR][1000 genomes]
rs633541	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635560	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640460	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643772	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645148	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs647084	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6507453	1.00[EUR][1000 genomes]
rs6507454	1.00[EUR][1000 genomes]
rs655693	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659950	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6650669	1.00[EUR][1000 genomes]
rs667346	0.87[AMR][1000 genomes]
rs669235	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670429	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684091	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229485	1.00[EUR][1000 genomes]
rs7237185	1.00[EUR][1000 genomes]
rs7237815	1.00[EUR][1000 genomes]
rs7238919	1.00[EUR][1000 genomes]
rs7239880	1.00[EUR][1000 genomes]
rs7240066	1.00[EUR][1000 genomes]
rs7241399	1.00[EUR][1000 genomes]
rs7242077	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245131	1.00[EUR][1000 genomes]
rs7343027	1.00[EUR][1000 genomes]
rs73448558	1.00[EUR][1000 genomes]
rs73451096	1.00[EUR][1000 genomes]
rs73452235	1.00[EUR][1000 genomes]
rs73452297	1.00[EUR][1000 genomes]
rs73452300	1.00[EUR][1000 genomes]
rs73453013	1.00[EUR][1000 genomes]
rs73454552	1.00[EUR][1000 genomes]
rs73454573	1.00[EUR][1000 genomes]
rs73454580	1.00[EUR][1000 genomes]
rs73454581	1.00[EUR][1000 genomes]
rs73454593	1.00[EUR][1000 genomes]
rs73454596	1.00[EUR][1000 genomes]
rs73454602	1.00[EUR][1000 genomes]
rs73950814	1.00[EUR][1000 genomes]
rs8084037	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8085708	1.00[EUR][1000 genomes]
rs8089142	1.00[EUR][1000 genomes]
rs8090403	1.00[EUR][1000 genomes]
rs8095945	1.00[EUR][1000 genomes]
rs9948650	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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:120 , 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	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
3	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
4	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
6	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
7	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:39612200-39666400	Weak transcription	Gastric	stomach
9	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
10	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:39615400-39663400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:39619200-39656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:39619800-39662200	Weak transcription	Right Ventricle	heart
14	chr18:39620800-39664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:39621200-39657200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:39628600-39666200	Weak transcription	A549	lung
17	chr18:39630600-39658600	Weak transcription	Hela-S3	cervix
18	chr18:39631200-39659800	Weak transcription	Fetal Brain Male	brain
19	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr18:39639400-39664000	Weak transcription	K562	blood
21	chr18:39644200-39674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:39644400-39656800	Weak transcription	HUVEC	blood vessel
23	chr18:39644600-39654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:39644600-39654400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:39644600-39665000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:39644800-39653800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:39644800-39654400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:39644800-39654800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:39644800-39655000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:39644800-39660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:39644800-39662800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:39644800-39664200	Strong transcription	Liver	Liver
33	chr18:39644800-39665000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:39645000-39664000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:39645400-39654200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:39645800-39654000	Strong transcription	Primary B cells from cord blood	blood
37	chr18:39646000-39653400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:39646800-39654200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:39647000-39654200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr18:39647000-39654400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:39647200-39654000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:39648000-39657400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:39648000-39661200	Weak transcription	HMEC	breast
44	chr18:39648200-39656400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr18:39648200-39657000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:39648200-39657200	Weak transcription	Lung	lung
47	chr18:39648200-39657200	Weak transcription	Osteobl	bone
48	chr18:39648200-39657600	Weak transcription	Brain Anterior Caudate	brain
49	chr18:39648200-39657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:39648200-39662200	Weak transcription	Psoas Muscle	Psoas

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