Variant report

Variant	rs73380739
Chromosome Location	chr18:6743428-6743429
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:6743142..6744914-chr18:6746474..6748281,2	K562	blood:
2	chr18:6743142..6745780-chr18:6746474..6749078,2	K562	blood:
3	chr18:6742579..6744550-chr18:6848151..6850631,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16950597	1.00[EUR][1000 genomes]
rs16950600	1.00[EUR][1000 genomes]
rs16950617	1.00[EUR][1000 genomes]
rs16950671	1.00[EUR][1000 genomes]
rs1897287	1.00[EUR][1000 genomes]
rs4316830	1.00[EUR][1000 genomes]
rs4798492	1.00[EUR][1000 genomes]
rs57890332	1.00[EUR][1000 genomes]
rs58095606	1.00[EUR][1000 genomes]
rs59370093	1.00[EUR][1000 genomes]
rs6506442	1.00[EUR][1000 genomes]
rs7227706	1.00[EUR][1000 genomes]
rs7234713	1.00[EUR][1000 genomes]
rs7234756	1.00[EUR][1000 genomes]
rs7239934	1.00[EUR][1000 genomes]
rs7244867	1.00[EUR][1000 genomes]
rs73378787	1.00[EUR][1000 genomes]
rs73380715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380731	1.00[EUR][1000 genomes]
rs73380732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380746	1.00[EUR][1000 genomes]
rs73380752	1.00[EUR][1000 genomes]
rs73384505	1.00[EUR][1000 genomes]
rs73384508	1.00[EUR][1000 genomes]
rs8088512	1.00[EUR][1000 genomes]
rs8092656	1.00[EUR][1000 genomes]
rs8093032	1.00[EUR][1000 genomes]
rs8099234	1.00[EUR][1000 genomes]
rs9949697	1.00[EUR][1000 genomes]
rs9951243	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer 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
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6730200-6747800	Weak transcription	Left Ventricle	heart
2	chr18:6731800-6743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:6735000-6743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:6736000-6745600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
6	chr18:6739200-6747600	Weak transcription	Fetal Heart	heart
7	chr18:6740800-6744400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:6741000-6747200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:6741000-6751200	Weak transcription	Placenta	Placenta
10	chr18:6741200-6751600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:6741400-6746600	Weak transcription	Fetal Brain Male	brain
12	chr18:6741400-6747800	Weak transcription	Right Atrium	heart
13	chr18:6741600-6744200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:6741600-6751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:6741600-6751800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:6741600-6761400	Weak transcription	Pancreas	Pancrea
17	chr18:6741800-6745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:6741800-6747200	Weak transcription	Fetal Kidney	kidney
19	chr18:6741800-6750000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:6742000-6747800	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:6742000-6748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:6742200-6745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:6742200-6746000	Weak transcription	HMEC	breast
24	chr18:6742200-6746600	Weak transcription	Hela-S3	cervix
25	chr18:6742600-6745400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:6742600-6745600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:6742600-6746200	Weak transcription	NHLF	lung
28	chr18:6742600-6747800	Weak transcription	Ovary	ovary
29	chr18:6742800-6744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:6742800-6746400	Weak transcription	HUVEC	blood vessel
31	chr18:6743000-6743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:6743000-6744000	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:6743000-6744200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:6743000-6744200	Weak transcription	HSMM	muscle
35	chr18:6743000-6745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:6743000-6745400	Enhancers	Fetal Lung	lung
37	chr18:6743000-6745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:6743000-6745600	Weak transcription	Psoas Muscle	Psoas
39	chr18:6743000-6745600	Weak transcription	NH-A	brain
40	chr18:6743000-6748400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:6743200-6743600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:6743200-6746400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:6743400-6743600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr18:6743400-6743800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:6743400-6743800	Weak transcription	HSMMtube	muscle
46	chr18:6743400-6745400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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