Variant report

Variant	rs542757660
Chromosome Location	chr18:12911874-12911875
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	E2F6	chr18:12911488-12912542	H1-hESC	embryonic stem cell:	n/a	chr18:12912214-12912223
2	MAX	chr18:12911576-12912058	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr18:12911551-12912600	H1-hESC	embryonic stem cell:	n/a	chr18:12912320-12912329

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267336	TF binding region
ENSG00000267570	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a
7	esv3424405	chr18:12911202-12913700	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12910800-12912000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr18:12910800-12912200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:12911000-12912000	Active TSS	Primary T cells from cord blood	blood
5	chr18:12911000-12912000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12911000-12912000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr18:12911000-12912000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr18:12911000-12912200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr18:12911000-12912200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr18:12911000-12912200	Bivalent Enhancer	Fetal Brain Male	brain
13	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:12911000-12912400	Flanking Active TSS	Right Ventricle	heart
16	chr18:12911200-12912000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
17	chr18:12911200-12912000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr18:12911200-12912000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr18:12911200-12912000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
20	chr18:12911200-12912000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr18:12911200-12912000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr18:12911200-12912200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr18:12911200-12912200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr18:12911200-12912200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr18:12911200-12912200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr18:12911200-12912200	Flanking Active TSS	Gastric	stomach
27	chr18:12911200-12912200	Flanking Active TSS	Pancreas	Pancrea
28	chr18:12911200-12912400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr18:12911200-12912400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr18:12911200-12912400	ZNF genes & repeats	Lung	lung
31	chr18:12911400-12912200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:12911400-12912400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr18:12911400-12912600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:12911400-12912600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:12911600-12912000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:12911600-12912000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr18:12911600-12912000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
38	chr18:12911600-12912000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr18:12911600-12912000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr18:12911600-12912000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr18:12911600-12912200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr18:12911600-12912200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:12911600-12912200	Enhancers	Fetal Heart	heart
44	chr18:12911600-12912200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr18:12911600-12912400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:12911600-12912800	Enhancers	Spleen	Spleen
47	chr18:12911800-12912000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr18:12911800-12912000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr18:12911800-12912000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr18:12911800-12912000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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