Variant report

Variant	rs7243454
Chromosome Location	chr18:43487669-43487670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43485515..43488498-chr18:43492379..43494809,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11872710	1.00[EUR][1000 genomes]
rs11872746	1.00[EUR][1000 genomes]
rs11872802	1.00[EUR][1000 genomes]
rs11873365	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11875230	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11877436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978476	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16978492	1.00[EUR][1000 genomes]
rs16978493	1.00[EUR][1000 genomes]
rs16978494	1.00[EUR][1000 genomes]
rs16978505	1.00[EUR][1000 genomes]
rs28366995	1.00[EUR][1000 genomes]
rs28372661	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460769	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28479138	1.00[AMR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28698347	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[EUR][1000 genomes]
rs28994285	1.00[EUR][1000 genomes]
rs28994287	1.00[EUR][1000 genomes]
rs28994295	1.00[EUR][1000 genomes]
rs34674177	1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	1.00[EUR][1000 genomes]
rs7229410	1.00[EUR][1000 genomes]
rs7236728	1.00[EUR][1000 genomes]
rs7242125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8089860	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs8094456	1.00[EUR][1000 genomes]
rs9946629	1.00[EUR][1000 genomes]
rs9946802	1.00[EUR][1000 genomes]
rs9947795	1.00[EUR][1000 genomes]
rs9948555	1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9953484	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9954523	1.00[EUR][1000 genomes]
rs9955015	1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9957999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9958360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9958987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9959151	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9959239	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9960635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9961926	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9964753	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9964968	1.00[EUR][1000 genomes]
rs9965236	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9965728	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9966061	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967557	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
3	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:43460800-43500200	Strong transcription	Osteobl	bone
11	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:43466400-43498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:43469800-43519000	Weak transcription	A549	lung
15	chr18:43471000-43506400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr18:43471800-43500200	Strong transcription	Adipose Nuclei	Adipose
17	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr18:43472600-43498600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr18:43473000-43505800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr18:43474000-43505200	Strong transcription	NHLF	lung
22	chr18:43474400-43490800	Strong transcription	Fetal Intestine Large	intestine
23	chr18:43474400-43500000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr18:43474600-43498200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr18:43474600-43511000	Strong transcription	Primary B cells from cord blood	blood
26	chr18:43474600-43511200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr18:43474800-43488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43474800-43511200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr18:43475200-43490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
31	chr18:43475400-43500600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:43476200-43498000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:43476400-43497800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:43476800-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:43477000-43500000	Strong transcription	NHDF-Ad	bronchial
37	chr18:43477200-43490800	Strong transcription	NH-A	brain
38	chr18:43477400-43498200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:43477400-43498800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:43477800-43498200	Strong transcription	Fetal Muscle Leg	muscle
41	chr18:43477800-43498600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:43477800-43500000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:43477800-43513600	Strong transcription	Fetal Thymus	thymus
44	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
46	chr18:43478000-43498200	Strong transcription	Brain Anterior Caudate	brain
47	chr18:43478000-43500200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:43478000-43500400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr18:43478000-43511400	Strong transcription	Dnd41	blood
50	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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