Variant report

Variant	rs550534143
Chromosome Location	chr18:44335619-44335620
allele	C/T
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	SPI1	chr18:44335295-44335722	HL-60	blood:	n/a	chr18:44335347-44335360 chr18:44335526-44335539

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	nsv909603	chr18:44300281-44335724	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44333600-44337400	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr18:44333800-44335800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr18:44334000-44335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:44334200-44335800	Enhancers	Primary B cells from peripheral blood	blood
5	chr18:44334200-44336200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr18:44334200-44337800	Active TSS	Brain Angular Gyrus	brain
7	chr18:44334400-44335800	Enhancers	Fetal Heart	heart
8	chr18:44334400-44335800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr18:44334400-44336400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr18:44334400-44338000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr18:44334400-44338400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:44334600-44335800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr18:44334600-44336000	Active TSS	Brain Germinal Matrix	brain
14	chr18:44334600-44336200	Enhancers	Spleen	Spleen
15	chr18:44334800-44335800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr18:44334800-44335800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr18:44334800-44335800	Enhancers	Left Ventricle	heart
18	chr18:44334800-44335800	Weak transcription	Psoas Muscle	Psoas
19	chr18:44334800-44335800	Enhancers	GM12878-XiMat	blood
20	chr18:44335000-44336000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:44335000-44336000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr18:44335000-44337600	Active TSS	Right Atrium	heart
23	chr18:44335000-44337800	Active TSS	HSMMtube	muscle
24	chr18:44335200-44335800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr18:44335200-44336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:44335200-44336000	Active TSS	Brain Hippocampus Middle	brain
27	chr18:44335200-44336200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr18:44335200-44338200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:44335400-44335800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr18:44335400-44335800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr18:44335400-44335800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
32	chr18:44335400-44335800	Bivalent Enhancer	Fetal Brain Male	brain
33	chr18:44335400-44337400	Bivalent Enhancer	Fetal Lung	lung
34	chr18:44335400-44338200	Active TSS	HSMM	muscle
35	chr18:44335400-44338200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr18:44335600-44335800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr18:44335600-44335800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr18:44335600-44335800	Enhancers	Brain Anterior Caudate	brain
39	chr18:44335600-44335800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr18:44335600-44336000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr18:44335600-44336000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:44335600-44336400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
43	chr18:44335600-44336600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr18:44335600-44337000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr18:44335600-44337600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr18:44335600-44337800	Active TSS	Brain Substantia Nigra	brain
47	chr18:44335600-44338000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:44335600-44338000	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr18:44335600-44338200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:44335600-44338200	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links