Variant report

Variant	rs9783884
Chromosome Location	chr18:43651133-43651134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43649084..43651294-chr18:43664772..43667437,2	K562	blood:
2	chr18:43578214..43579999-chr18:43649262..43651951,2	K562	blood:

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11082509	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	0.87[EUR][1000 genomes]
rs12954944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13381709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800637	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298787	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	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]
rs7230064	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7235373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244921	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089150	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	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	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]
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	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
2	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
3	chr18:43642400-43651200	Weak transcription	Lung	lung
4	chr18:43648000-43651600	Weak transcription	Hela-S3	cervix
5	chr18:43649000-43651200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:43649000-43651400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr18:43649200-43651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:43649200-43651400	Weak transcription	Left Ventricle	heart
9	chr18:43649600-43651200	Weak transcription	HUVEC	blood vessel
10	chr18:43650000-43651200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:43650200-43651600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:43650200-43651800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr18:43650200-43652800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:43650400-43651200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr18:43650400-43651400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr18:43650400-43651600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr18:43650600-43651200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:43650600-43651600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:43650600-43651600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:43650600-43651600	Flanking Active TSS	HMEC	breast
21	chr18:43650600-43651800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:43650800-43651200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr18:43650800-43651200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr18:43650800-43651200	Active TSS	Colonic Mucosa	Colon
25	chr18:43650800-43651400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr18:43650800-43651400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr18:43650800-43651400	Flanking Active TSS	K562	blood
28	chr18:43650800-43651600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:43650800-43651600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr18:43650800-43651600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr18:43650800-43651600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:43650800-43651600	Flanking Active TSS	Osteobl	bone
33	chr18:43650800-43651800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr18:43650800-43651800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr18:43650800-43651800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr18:43650800-43651800	Flanking Active TSS	NHEK	skin
37	chr18:43650800-43652000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:43650800-43652000	Flanking Active TSS	Fetal Thymus	thymus
39	chr18:43650800-43652400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:43650800-43652400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr18:43650800-43652600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr18:43650800-43652600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:43650800-43652600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr18:43650800-43652600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:43650800-43652800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr18:43650800-43652800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr18:43650800-43652800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr18:43650800-43653000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr18:43650800-43653000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr18:43651000-43651200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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