Variant report

Variant	rs73393597
Chromosome Location	chr18:7790475-7790476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28435640	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28475616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28507132	1.00[ASN][1000 genomes]
rs28510239	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28550900	0.86[ASN][1000 genomes]
rs28564059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28580069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28674940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7232348	0.86[ASN][1000 genomes]
rs7234397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7240381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73393561	0.86[ASN][1000 genomes]
rs73395403	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8091484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8092383	0.95[ASN][1000 genomes]
rs9944593	0.95[ASN][1000 genomes]
rs9955845	1.00[AMR][1000 genomes]
rs9956179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9958870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9959159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9961614	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
2	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
3	chr18:7786600-7791800	Enhancers	A549	lung
4	chr18:7787600-7794800	Weak transcription	Right Atrium	heart
5	chr18:7787600-7797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:7787600-7798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:7787600-7804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7787800-7796400	Weak transcription	Right Ventricle	heart
9	chr18:7787800-7806600	Weak transcription	Thymus	Thymus
10	chr18:7789200-7790600	Enhancers	Left Ventricle	heart
11	chr18:7789400-7790600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:7789400-7790800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:7789400-7791600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:7789600-7790600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:7789600-7790600	Enhancers	Fetal Kidney	kidney
16	chr18:7789600-7791000	Enhancers	Fetal Heart	heart
17	chr18:7789600-7791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:7789600-7791600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr18:7789800-7804000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:7790000-7790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:7790000-7790600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:7790000-7790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:7790000-7790600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr18:7790000-7790800	Enhancers	Hela-S3	cervix
25	chr18:7790000-7791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:7790000-7791400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr18:7790000-7791600	Enhancers	Adipose Nuclei	Adipose
28	chr18:7790200-7790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:7790200-7790600	Enhancers	Fetal Muscle Leg	muscle
30	chr18:7790200-7790600	Enhancers	Fetal Thymus	thymus
31	chr18:7790200-7790600	Enhancers	NH-A	brain
32	chr18:7790200-7790800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:7790400-7790600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr18:7790400-7790600	Enhancers	Fetal Brain Male	brain
35	chr18:7790400-7790600	Enhancers	Lung	lung
36	chr18:7790400-7790800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr18:7790400-7790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:7790400-7791000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr18:7790400-7791200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:7790400-7791600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr18:7790400-7793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:7790400-7793800	Weak transcription	Psoas Muscle	Psoas
43	chr18:7790400-7795400	Weak transcription	Brain Anterior Caudate	brain
44	chr18:7790400-7802000	Weak transcription	HepG2	liver

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