Variant report

Variant	rs73380746
Chromosome Location	chr18:6748747-6748748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:6743142..6745780-chr18:6746474..6749078,2	K562	blood:

Extended variants
information (count: 47 )
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]
rs73380731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380732	1.00[EUR][1000 genomes]
rs73380739	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: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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
2	chr18:6741000-6751200	Weak transcription	Placenta	Placenta
3	chr18:6741200-6751600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:6741600-6751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:6741600-6751800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:6741600-6761400	Weak transcription	Pancreas	Pancrea
7	chr18:6741800-6750000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:6743800-6748800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:6744200-6748800	Enhancers	HSMM	muscle
10	chr18:6745200-6749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:6745600-6748800	Enhancers	NH-A	brain
12	chr18:6745600-6749000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:6745800-6749000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:6745800-6749800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:6746000-6750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:6746200-6750000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:6746400-6749000	Enhancers	HSMMtube	muscle
18	chr18:6747000-6748800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr18:6747200-6749000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr18:6747400-6749000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:6747400-6751200	Weak transcription	Fetal Brain Male	brain
22	chr18:6747600-6749000	Enhancers	Fetal Heart	heart
23	chr18:6747800-6749000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:6747800-6749000	Enhancers	Fetal Muscle Leg	muscle
25	chr18:6747800-6749000	Enhancers	Left Ventricle	heart
26	chr18:6747800-6749000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr18:6748000-6748800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr18:6748000-6748800	Weak transcription	Right Ventricle	heart
29	chr18:6748200-6748800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr18:6748200-6750200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:6748200-6751400	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:6748200-6751600	Weak transcription	HUVEC	blood vessel
33	chr18:6748400-6748800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:6748400-6748800	Weak transcription	Psoas Muscle	Psoas
35	chr18:6748400-6749000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr18:6748400-6749000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr18:6748400-6750200	Weak transcription	Osteobl	bone
38	chr18:6748400-6751000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:6748400-6751400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr18:6748600-6748800	Weak transcription	Fetal Lung	lung
41	chr18:6748600-6750000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:6748600-6751600	Weak transcription	Ovary	ovary
43	chr18:6748600-6751600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr18:6748600-6752000	Weak transcription	NHLF	lung
45	chr18:6748600-6752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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