Variant report

Variant	rs948568
Chromosome Location	chr18:44293017-44293018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28386909	1.00[EUR][1000 genomes]
rs28461406	1.00[EUR][1000 genomes]
rs28502205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28527202	1.00[EUR][1000 genomes]
rs28722950	1.00[EUR][1000 genomes]
rs9956435	1.00[YRI][hapmap]
rs9961814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909596	chr18:44291419-44330604	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:44287800-44298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:44290000-44293600	Enhancers	Psoas Muscle	Psoas
4	chr18:44290000-44295400	Enhancers	Fetal Muscle Leg	muscle
5	chr18:44290600-44293200	Enhancers	Right Atrium	heart
6	chr18:44290600-44293600	Enhancers	Fetal Muscle Trunk	muscle
7	chr18:44290600-44293600	Enhancers	Left Ventricle	heart
8	chr18:44290600-44294600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr18:44290800-44293800	Enhancers	HSMMtube	muscle
10	chr18:44291000-44293400	Enhancers	NHDF-Ad	bronchial
11	chr18:44291000-44293600	Enhancers	Brain Angular Gyrus	brain
12	chr18:44291200-44293400	Enhancers	HSMM	muscle
13	chr18:44291400-44293200	Enhancers	Brain Cingulate Gyrus	brain
14	chr18:44291600-44293200	Enhancers	Brain Substantia Nigra	brain
15	chr18:44291600-44293400	Enhancers	NH-A	brain
16	chr18:44291600-44293600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr18:44291800-44293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:44291800-44293200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:44291800-44293200	Enhancers	NHLF	lung
20	chr18:44291800-44293200	Enhancers	Osteobl	bone
21	chr18:44291800-44295200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:44292000-44293800	Enhancers	Fetal Heart	heart
23	chr18:44292000-44294400	Enhancers	Brain Germinal Matrix	brain
24	chr18:44292000-44295000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr18:44292200-44294400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr18:44292800-44297000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:44293000-44293600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:44293000-44294000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:44293000-44294000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr18:44293000-44294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:44293000-44295200	Weak transcription	Right Ventricle	heart
32	chr18:44293000-44296600	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:44293000-44296600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:44293000-44298400	Weak transcription	Ovary	ovary
35	chr18:44293000-44298800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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