Variant report

Variant	rs4591228
Chromosome Location	chr18:6751619-6751620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4586535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4798488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6506435	1.00[AFR][1000 genomes]
rs6506437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7240722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7504335	0.84[AFR][1000 genomes]
rs8088557	1.00[AFR][1000 genomes]
rs9951040	0.84[AFR][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
2	chr18:6741600-6751800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:6741600-6761400	Weak transcription	Pancreas	Pancrea
4	chr18:6748600-6752000	Weak transcription	NHLF	lung
5	chr18:6748600-6752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:6749000-6752400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:6749000-6756600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:6749000-6757800	Weak transcription	Fetal Heart	heart
9	chr18:6750600-6752200	Weak transcription	Osteobl	bone
10	chr18:6750800-6752200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:6750800-6757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:6751000-6752000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:6751000-6752200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:6751000-6752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:6751000-6752400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:6751200-6752200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:6751200-6752200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:6751200-6753200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr18:6751200-6754000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:6751200-6754600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:6751200-6756600	Weak transcription	Psoas Muscle	Psoas
22	chr18:6751400-6752000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr18:6751400-6752200	Enhancers	HSMMtube	muscle
24	chr18:6751400-6752400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr18:6751400-6752400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:6751400-6752400	Enhancers	Rectal Smooth Muscle	rectum
27	chr18:6751400-6752800	Enhancers	Adipose Nuclei	Adipose
28	chr18:6751400-6752800	Enhancers	Fetal Stomach	stomach
29	chr18:6751400-6753200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:6751400-6753200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr18:6751400-6753200	Enhancers	Colon Smooth Muscle	Colon
32	chr18:6751400-6753200	Enhancers	NH-A	brain
33	chr18:6751600-6751800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:6751600-6751800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:6751600-6751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:6751600-6751800	Flanking Active TSS	Fetal Lung	lung
37	chr18:6751600-6751800	Enhancers	Fetal Muscle Trunk	muscle
38	chr18:6751600-6751800	Enhancers	Fetal Muscle Leg	muscle
39	chr18:6751600-6751800	Enhancers	Left Ventricle	heart
40	chr18:6751600-6751800	Enhancers	Ovary	ovary
41	chr18:6751600-6752200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr18:6751600-6752400	Enhancers	Stomach Smooth Muscle	stomach
43	chr18:6751600-6752600	Enhancers	HUVEC	blood vessel
44	chr18:6751600-6752800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:6751600-6752800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:6751600-6752800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr18:6751600-6753000	Enhancers	NHDF-Ad	bronchial
48	chr18:6751600-6753200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:6751600-6753200	Enhancers	HSMM	muscle
50	chr18:6751600-6753600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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