Variant report

Variant	rs9783886
Chromosome Location	chr18:43651270-43651271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11082509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659357	0.89[EUR][1000 genomes]
rs11659478	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11659795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11661945	0.83[EUR][1000 genomes]
rs11664764	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11872954	0.85[EUR][1000 genomes]
rs11872985	0.85[EUR][1000 genomes]
rs11874712	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12954944	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13381709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800636	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1800637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28457840	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504655	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28699609	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34907121	0.90[EUR][1000 genomes]
rs35507656	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075249	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56181324	0.91[EUR][1000 genomes]
rs62096500	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7227508	1.00[CHB][hapmap]
rs7230064	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7231846	1.00[CHB][hapmap]
rs7235373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7244950	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8083998	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8085444	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8085743	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088881	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8091452	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8092674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8093880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8094902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8097521	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9304326	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304327	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304328	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9783884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783887	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783888	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944637	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9944659	0.86[ASN][1000 genomes]
rs9945606	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9945751	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9947908	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954278	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9961065	1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962380	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9962458	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43648000-43651600	Weak transcription	Hela-S3	cervix
2	chr18:43649000-43651400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr18:43649200-43651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr18:43649200-43651400	Weak transcription	Left Ventricle	heart
5	chr18:43650200-43651600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:43650200-43651800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr18:43650200-43652800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:43650400-43651400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr18:43650400-43651600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr18:43650600-43651600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:43650600-43651600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:43650600-43651600	Flanking Active TSS	HMEC	breast
13	chr18:43650600-43651800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:43650800-43651400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr18:43650800-43651400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr18:43650800-43651400	Flanking Active TSS	K562	blood
17	chr18:43650800-43651600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:43650800-43651600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr18:43650800-43651600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr18:43650800-43651600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:43650800-43651600	Flanking Active TSS	Osteobl	bone
22	chr18:43650800-43651800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr18:43650800-43651800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr18:43650800-43651800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr18:43650800-43651800	Flanking Active TSS	NHEK	skin
26	chr18:43650800-43652000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:43650800-43652000	Flanking Active TSS	Fetal Thymus	thymus
28	chr18:43650800-43652400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:43650800-43652400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr18:43650800-43652600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr18:43650800-43652600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:43650800-43652600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr18:43650800-43652600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr18:43650800-43652800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr18:43650800-43652800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr18:43650800-43652800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr18:43650800-43653000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr18:43650800-43653000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr18:43651000-43651400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr18:43651000-43651400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:43651000-43651400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr18:43651000-43651400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:43651000-43651400	Flanking Active TSS	Gastric	stomach
44	chr18:43651000-43651400	Flanking Active TSS	Spleen	Spleen
45	chr18:43651000-43651400	Flanking Active TSS	NH-A	brain
46	chr18:43651000-43651400	Flanking Active TSS	NHLF	lung
47	chr18:43651000-43651600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:43651000-43651600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr18:43651000-43651600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:43651000-43651600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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