Variant report

Variant	rs73380731
Chromosome Location	chr18:6740331-6740332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:6731530..6734164-chr18:6740298..6742070,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

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]
rs57136505	1.00[AMR][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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378787	1.00[EUR][1000 genomes]
rs73380715	1.00[EUR][1000 genomes]
rs73380727	1.00[AMR][1000 genomes]
rs73380732	1.00[EUR][1000 genomes]
rs73380739	1.00[EUR][1000 genomes]
rs73380746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9951243	1.00[EUR][1000 genomes]
rs9958628	0.85[AMR][1000 genomes]
rs9960790	1.00[AMR][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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6730200-6747800	Weak transcription	Left Ventricle	heart
2	chr18:6730800-6740400	Weak transcription	Psoas Muscle	Psoas
3	chr18:6730800-6740800	Weak transcription	Right Atrium	heart
4	chr18:6731600-6741000	Weak transcription	K562	blood
5	chr18:6731800-6743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:6732400-6740600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:6732800-6740600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:6732800-6740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:6733000-6740800	Weak transcription	Adipose Nuclei	Adipose
10	chr18:6735000-6743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr18:6736000-6740600	Weak transcription	Fetal Stomach	stomach
12	chr18:6736000-6740800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:6736000-6740800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:6736000-6745600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
16	chr18:6736200-6740600	Weak transcription	Fetal Kidney	kidney
17	chr18:6738200-6740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:6738200-6740400	Weak transcription	HSMMtube	muscle
19	chr18:6738200-6740600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr18:6738200-6740600	Weak transcription	HMEC	breast
21	chr18:6738200-6740600	Weak transcription	Osteobl	bone
22	chr18:6738200-6740800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:6738800-6740600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:6738800-6740800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:6738800-6740800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:6738800-6740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:6738800-6743000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:6739000-6740400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:6739000-6740600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:6739000-6740800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr18:6739000-6740800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:6739000-6740800	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:6739000-6740800	Weak transcription	Fetal Brain Male	brain
34	chr18:6739000-6740800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:6739200-6740400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:6739200-6740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:6739200-6740800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:6739200-6747600	Weak transcription	Fetal Heart	heart
39	chr18:6739400-6740800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:6739800-6741000	Enhancers	Placenta	Placenta
41	chr18:6740000-6741000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:6740000-6741600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:6740000-6743000	Enhancers	NHDF-Ad	bronchial
44	chr18:6740200-6740400	Enhancers	Fetal Muscle Leg	muscle
45	chr18:6740200-6740600	Genic enhancers	Fetal Lung	lung
46	chr18:6740200-6741000	Enhancers	Ovary	ovary
47	chr18:6740200-6741000	Genic enhancers	HSMM	muscle
48	chr18:6740200-6741800	Enhancers	NH-A	brain
49	chr18:6740200-6742200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:6740200-6742600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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