Variant report

Variant	rs73381829
Chromosome Location	chr18:7941793-7941794
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	chr18:7936902..7939574-chr18:7940048..7941947,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1443601	0.86[EUR][1000 genomes]
rs28714420	1.00[EUR][1000 genomes]
rs60950392	0.86[EUR][1000 genomes]
rs73379994	0.94[AFR][1000 genomes]
rs73381820	0.87[AFR][1000 genomes]
rs73381826	1.00[AFR][1000 genomes]
rs73381838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381840	0.87[AFR][1000 genomes]
rs73381856	0.86[EUR][1000 genomes]
rs73381865	0.86[EUR][1000 genomes]
rs73381875	0.86[EUR][1000 genomes]
rs73381880	0.86[EUR][1000 genomes]
rs8092268	1.00[EUR][1000 genomes]
rs9949799	0.86[EUR][1000 genomes]
rs9964734	1.00[EUR][1000 genomes]
rs9972988	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2761987	chr18:7934001-7943335	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr18:7926400-7945200	Weak transcription	Ovary	ovary
3	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
5	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
6	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
8	chr18:7932200-7961000	Weak transcription	HepG2	liver
9	chr18:7933600-7945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:7936800-7944800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:7937200-7945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7937400-7945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:7937600-7945600	Weak transcription	Fetal Stomach	stomach
14	chr18:7937600-7947000	Weak transcription	Thymus	Thymus
15	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:7938000-7946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:7939200-7941800	Enhancers	Left Ventricle	heart
21	chr18:7939800-7942000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:7939800-7942600	Enhancers	A549	lung
23	chr18:7940000-7941800	Enhancers	Right Ventricle	heart
24	chr18:7940000-7942000	Enhancers	Right Atrium	heart
25	chr18:7940000-7942000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr18:7940200-7942000	Enhancers	Fetal Heart	heart
27	chr18:7940200-7942800	Enhancers	Brain Germinal Matrix	brain
28	chr18:7940200-7944200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:7940200-7945600	Weak transcription	HSMM	muscle
30	chr18:7940400-7941800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr18:7940400-7941800	Enhancers	Lung	lung
32	chr18:7940400-7942000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:7940600-7945400	Weak transcription	Aorta	Aorta
34	chr18:7940800-7941800	Enhancers	Fetal Brain Female	brain
35	chr18:7940800-7942000	Enhancers	Fetal Brain Male	brain
36	chr18:7940800-7945000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:7940800-7945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:7940800-7945400	Weak transcription	Osteobl	bone
39	chr18:7941000-7942000	Enhancers	HMEC	breast
40	chr18:7941000-7942000	Enhancers	NHEK	skin
41	chr18:7941000-7942200	Enhancers	Fetal Muscle Leg	muscle
42	chr18:7941000-7942200	Enhancers	Pancreas	Pancrea
43	chr18:7941000-7946600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:7941200-7941800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:7941200-7941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr18:7941200-7941800	Enhancers	Brain Substantia Nigra	brain
47	chr18:7941200-7942000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:7941200-7945600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:7941200-7945800	Weak transcription	Adipose Nuclei	Adipose
50	chr18:7941400-7942400	Weak transcription	Gastric	stomach

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