Variant report

Variant	rs12965683
Chromosome Location	chr18:8959825-8959826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12953973	1.00[AFR][1000 genomes]
rs34156538	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs34226661	0.95[EUR][1000 genomes]
rs35115628	0.96[EUR][1000 genomes]
rs35357642	0.96[EUR][1000 genomes]
rs35400380	0.96[EUR][1000 genomes]
rs35927729	0.84[AMR][1000 genomes]
rs35932806	0.96[EUR][1000 genomes]
rs62085537	1.00[AFR][1000 genomes]
rs62085542	1.00[AFR][1000 genomes]
rs62085549	0.87[EUR][1000 genomes]
rs62085550	0.97[EUR][1000 genomes]
rs62085555	0.97[EUR][1000 genomes]
rs62085557	0.95[EUR][1000 genomes]
rs62087061	0.88[EUR][1000 genomes]
rs67018411	0.93[EUR][1000 genomes]
rs67049201	0.97[EUR][1000 genomes]
rs7235055	0.97[EUR][1000 genomes]
rs7236549	0.97[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8949800-8962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8952200-8960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:8952400-8961000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:8953600-8960600	Weak transcription	Osteobl	bone
5	chr18:8957200-8960800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8958200-8962400	Weak transcription	Fetal Muscle Leg	muscle
7	chr18:8958600-8960200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:8958800-8960000	Enhancers	K562	blood
9	chr18:8958800-8960200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr18:8958800-8960200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr18:8958800-8960200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:8959000-8960200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:8959000-8960200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:8959000-8960200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:8959000-8960200	Enhancers	Duodenum Mucosa	Duodenum
16	chr18:8959000-8960600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:8959000-8961000	Enhancers	Liver	Liver
18	chr18:8959200-8961600	Weak transcription	Gastric	stomach
19	chr18:8959400-8960200	Enhancers	Fetal Heart	heart
20	chr18:8959400-8960200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr18:8959400-8961600	Enhancers	Fetal Intestine Large	intestine
22	chr18:8959400-8969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:8959600-8960000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:8959600-8960000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:8959600-8960000	Flanking Active TSS	A549	lung
26	chr18:8959600-8960200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr18:8959600-8960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:8959600-8960200	Flanking Active TSS	HepG2	liver
29	chr18:8959600-8960400	Enhancers	Pancreas	Pancrea
30	chr18:8959600-8961000	Enhancers	Fetal Intestine Small	intestine
31	chr18:8959800-8960200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr18:8959800-8960200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:8959800-8960200	Flanking Active TSS	Stomach Mucosa	stomach
34	chr18:8959800-8960600	Enhancers	NH-A	brain
35	chr18:8959800-8960800	Weak transcription	NHLF	lung
36	chr18:8959800-8961800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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