Variant report

Variant	rs57623379
Chromosome Location	chr18:44337407-44337408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr18:44337374-44337780	A549	lung:	n/a	chr18:44337712-44337722
2	POLR2A	chr18:44337378-44338151	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ST8SIA5	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17707032	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17707231	0.88[ASN][1000 genomes]
rs17779802	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62097222	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	esv3361656	chr18:44335579-44338127	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44334200-44337800	Active TSS	Brain Angular Gyrus	brain
2	chr18:44334400-44338000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr18:44334400-44338400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:44335000-44337600	Active TSS	Right Atrium	heart
5	chr18:44335000-44337800	Active TSS	HSMMtube	muscle
6	chr18:44335200-44338200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:44335400-44338200	Active TSS	HSMM	muscle
8	chr18:44335400-44338200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr18:44335600-44337600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr18:44335600-44337800	Active TSS	Brain Substantia Nigra	brain
11	chr18:44335600-44338000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:44335600-44338000	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr18:44335600-44338200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:44335600-44338200	Active TSS	Brain Cingulate Gyrus	brain
15	chr18:44335800-44337600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:44335800-44338000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr18:44335800-44338000	Active TSS	Psoas Muscle	Psoas
18	chr18:44335800-44338200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr18:44335800-44338200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr18:44335800-44338400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr18:44335800-44338400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr18:44335800-44338400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr18:44336000-44337600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr18:44336000-44337800	Active TSS	Brain Anterior Caudate	brain
25	chr18:44336000-44338000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr18:44336000-44338000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr18:44336000-44338000	Active TSS	Left Ventricle	heart
28	chr18:44336000-44338200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr18:44336000-44338400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr18:44336200-44337600	Enhancers	Liver	Liver
31	chr18:44336200-44337600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
32	chr18:44336200-44337600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr18:44336200-44337600	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr18:44336200-44337800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:44336200-44337800	Bivalent Enhancer	Fetal Brain Male	brain
36	chr18:44336200-44338200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:44336200-44338200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:44336200-44338200	Bivalent Enhancer	Lung	lung
39	chr18:44336200-44338200	Enhancers	Pancreas	Pancrea
40	chr18:44336200-44338200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr18:44336200-44338200	Bivalent Enhancer	Spleen	Spleen
42	chr18:44336400-44337600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr18:44336400-44337600	Bivalent/Poised TSS	Ovary	ovary
44	chr18:44336400-44337800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:44336400-44337800	Bivalent/Poised TSS	NHLF	lung
46	chr18:44336400-44338200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:44336600-44337600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:44336600-44337600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:44336600-44337600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
50	chr18:44336600-44337800	Bivalent/Poised TSS	NH-A	brain

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