Variant report

Variant	rs546885905
Chromosome Location	chr18:43577752-43577753
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	POLR2A	chr18:43577673-43577837	GM12878	blood:	n/a	n/a
2	POLR2A	chr18:43577669-43577846	GM12878	blood:	n/a	n/a
3	ELF1	chr18:43577533-43577966	GM12878	blood:	n/a	chr18:43577697-43577706
4	NFIC	chr18:43577699-43578320	GM12878	blood:	n/a	n/a
5	EBF1	chr18:43577717-43578123	GM12878	blood:	n/a	n/a
6	MTA3	chr18:43577701-43578271	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43577618..43580480-chr18:43580513..43583485,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2277	chr18:43543715-43588579	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3389842	chr18:43576604-43578902	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43558800-43608000	Weak transcription	Pancreas	Pancrea
2	chr18:43560400-43582600	Weak transcription	Fetal Intestine Small	intestine
3	chr18:43560400-43597600	Weak transcription	Left Ventricle	heart
4	chr18:43560600-43591600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr18:43562400-43583200	Weak transcription	Lung	lung
6	chr18:43562600-43585600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:43563400-43592000	Weak transcription	Psoas Muscle	Psoas
8	chr18:43565400-43588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:43565400-43590800	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:43565600-43588800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:43567800-43578400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:43567800-43588800	Weak transcription	NHEK	skin
13	chr18:43568000-43583200	Weak transcription	Esophagus	oesophagus
14	chr18:43568400-43578200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr18:43568600-43596800	Weak transcription	Adipose Nuclei	Adipose
16	chr18:43568800-43588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:43568800-43607800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:43569400-43588800	Weak transcription	Fetal Stomach	stomach
19	chr18:43570000-43577800	Weak transcription	K562	blood
20	chr18:43570000-43579400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:43570000-43583000	Weak transcription	Aorta	Aorta
22	chr18:43570200-43588800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:43571400-43622000	Weak transcription	Gastric	stomach
24	chr18:43572200-43582600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:43573800-43582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:43574000-43577800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr18:43574200-43582000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:43574200-43582600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:43574200-43590000	Weak transcription	HMEC	breast
30	chr18:43574200-43592000	Weak transcription	NH-A	brain
31	chr18:43574200-43593200	Weak transcription	NHDF-Ad	bronchial
32	chr18:43574200-43597400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:43574200-43608000	Weak transcription	NHLF	lung
34	chr18:43574600-43608000	Weak transcription	Osteobl	bone
35	chr18:43575400-43580600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:43575600-43577800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:43575800-43578600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:43576000-43577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr18:43576000-43579800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr18:43576000-43585800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:43576200-43577800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr18:43576200-43577800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr18:43576200-43577800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:43576200-43577800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr18:43576200-43577800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr18:43576200-43577800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr18:43576200-43577800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr18:43576400-43577800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:43576600-43578800	Weak transcription	Spleen	Spleen
50	chr18:43576600-43581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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