Variant report

Variant	rs562577812
Chromosome Location	chr18:44336514-44336515
allele	A/G
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	GABPA	chr18:44336224-44336557	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr18:44336453-44336782	GM12878	blood:	n/a	n/a
3	MAX	chr18:44336396-44337176	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr18:44336373-44337185	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr18:44336144-44337128	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr18:44336390-44337100	H1-hESC	embryonic stem cell:	n/a	chr18:44336742-44336752 chr18:44336946-44336955
7	PAX5	chr18:44336494-44336848	GM12892	blood:	n/a	chr18:44336636-44336655
8	GABPA	chr18:44336146-44337102	H1-hESC	embryonic stem cell:	n/a	chr18:44336584-44336593
9	E2F6	chr18:44336237-44337174	H1-hESC	embryonic stem cell:	n/a	chr18:44336742-44336752 chr18:44337110-44337119 chr18:44336946-44336955

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL2-1	chr18:44336450-44336587	ENSG00000270112.2

Variant related genes	Relation type
ENSG00000270112	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44333600-44337400	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr18:44334200-44337800	Active TSS	Brain Angular Gyrus	brain
3	chr18:44334400-44338000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr18:44334400-44338400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:44335000-44337600	Active TSS	Right Atrium	heart
6	chr18:44335000-44337800	Active TSS	HSMMtube	muscle
7	chr18:44335200-44338200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:44335400-44337400	Bivalent Enhancer	Fetal Lung	lung
9	chr18:44335400-44338200	Active TSS	HSMM	muscle
10	chr18:44335400-44338200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr18:44335600-44336600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr18:44335600-44337000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
13	chr18:44335600-44337600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr18:44335600-44337800	Active TSS	Brain Substantia Nigra	brain
15	chr18:44335600-44338000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:44335600-44338000	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr18:44335600-44338200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:44335600-44338200	Active TSS	Brain Cingulate Gyrus	brain
19	chr18:44335800-44336600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr18:44335800-44336800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:44335800-44336800	Flanking Active TSS	GM12878-XiMat	blood
22	chr18:44335800-44337000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr18:44335800-44337600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:44335800-44338000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr18:44335800-44338000	Active TSS	Psoas Muscle	Psoas
26	chr18:44335800-44338200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr18:44335800-44338200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr18:44335800-44338400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr18:44335800-44338400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr18:44335800-44338400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr18:44336000-44336600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
32	chr18:44336000-44336600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr18:44336000-44337000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:44336000-44337000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr18:44336000-44337200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:44336000-44337600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr18:44336000-44337800	Active TSS	Brain Anterior Caudate	brain
38	chr18:44336000-44338000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr18:44336000-44338000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr18:44336000-44338000	Active TSS	Left Ventricle	heart
41	chr18:44336000-44338200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr18:44336000-44338400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr18:44336200-44336600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:44336200-44336600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:44336200-44336600	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr18:44336200-44336800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:44336200-44336800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:44336200-44337000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:44336200-44337000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr18:44336200-44337200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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