Variant report

Variant	rs515596
Chromosome Location	chr18:43332571-43332572
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	chr18:43332527..43334048-chr18:43349624..43352613,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

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[TSI][hapmap];1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	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]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	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]
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[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8090934	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	1.00[EUR][1000 genomes]
rs9953484	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[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv909587	chr18:43269125-43333526	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43312800-43335200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:43321200-43332800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:43321200-43335600	Weak transcription	Brain Substantia Nigra	brain
4	chr18:43326200-43334000	Weak transcription	Aorta	Aorta
5	chr18:43326600-43343600	Weak transcription	Spleen	Spleen
6	chr18:43328800-43332800	Weak transcription	Osteobl	bone
7	chr18:43329000-43334200	Weak transcription	Right Atrium	heart
8	chr18:43329000-43335800	Weak transcription	Stomach Mucosa	stomach
9	chr18:43330000-43333800	Weak transcription	Left Ventricle	heart
10	chr18:43330200-43335200	Weak transcription	Fetal Heart	heart
11	chr18:43330200-43335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:43330600-43332600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:43330600-43332800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:43330600-43333400	Weak transcription	Fetal Intestine Small	intestine
15	chr18:43330600-43334000	Weak transcription	Pancreas	Pancrea
16	chr18:43330600-43335200	Weak transcription	Small Intestine	intestine
17	chr18:43330600-43335400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:43330600-43335400	Weak transcription	Hela-S3	cervix
19	chr18:43330600-43335400	Weak transcription	NH-A	brain
20	chr18:43330600-43340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:43330800-43333200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:43331000-43339400	Weak transcription	Fetal Intestine Large	intestine
23	chr18:43331000-43340200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr18:43331800-43334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:43331800-43337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:43332000-43332600	Enhancers	Primary hematopoietic stem cells	blood
27	chr18:43332000-43333200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr18:43332200-43339600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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