Variant report

Variant	rs8093883
Chromosome Location	chr18:45562666-45562667
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	chr18:45458331..45460939-chr18:45561622..45564314,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12605978	0.85[YRI][hapmap]
rs4359513	0.93[CEU][hapmap];0.88[CHB][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4468699	0.88[EUR][1000 genomes]
rs4620750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939701	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4940195	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4940197	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4940202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4940217	0.90[EUR][1000 genomes]
rs7226941	0.90[EUR][1000 genomes]
rs7243734	0.82[ASN][1000 genomes]
rs8099419	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9945580	0.87[EUR][1000 genomes]
rs9951809	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9958955	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9960301	0.92[EUR][1000 genomes]
rs9960608	0.80[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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45550400-45563400	Weak transcription	Stomach Mucosa	stomach
2	chr18:45550600-45564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:45550800-45563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:45552600-45565200	Weak transcription	Colonic Mucosa	Colon
5	chr18:45554200-45563400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:45554200-45567800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr18:45554400-45563000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:45554400-45567600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:45554800-45563400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:45555000-45563800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:45555000-45564000	Weak transcription	Adipose Nuclei	Adipose
12	chr18:45557400-45570000	Weak transcription	Fetal Intestine Small	intestine
13	chr18:45558200-45562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:45558200-45563800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:45558400-45578400	Weak transcription	Ovary	ovary
16	chr18:45559000-45565600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:45559200-45564400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:45559800-45565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:45560200-45563800	Enhancers	Spleen	Spleen
20	chr18:45560200-45564800	Enhancers	Fetal Muscle Leg	muscle
21	chr18:45560200-45566400	Genic enhancers	Esophagus	oesophagus
22	chr18:45560400-45563000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:45560400-45564600	Enhancers	Fetal Muscle Trunk	muscle
24	chr18:45560600-45562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:45560600-45563000	Weak transcription	HSMM	muscle
26	chr18:45561600-45563800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:45562200-45562800	Genic enhancers	Gastric	stomach
28	chr18:45562200-45562800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr18:45562200-45563000	Enhancers	Hela-S3	cervix
30	chr18:45562400-45562800	Weak transcription	Fetal Kidney	kidney
31	chr18:45562400-45564400	Enhancers	HSMMtube	muscle
32	chr18:45562400-45565200	Enhancers	Lung	lung
33	chr18:45562600-45562800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:45562600-45562800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:45562600-45563200	Enhancers	Fetal Stomach	stomach
36	chr18:45562600-45564200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:45562600-45564400	Enhancers	HMEC	breast
38	chr18:45562600-45564800	Enhancers	Placenta	Placenta
39	chr18:45562600-45566800	Weak transcription	Aorta	Aorta

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