Variant report

Variant	rs537110876
Chromosome Location	chr18:12473527-12473528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12457149..12459237-chr18:12472773..12475117,2	K562	blood:
2	chr18:12466910..12468517-chr18:12473202..12476179,2	K562	blood:
3	chr18:12469862..12472463-chr18:12473454..12475664,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
3	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:12449600-12477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12449800-12477600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:12449800-12477600	Weak transcription	Spleen	Spleen
8	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12449800-12478000	Weak transcription	Gastric	stomach
10	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:12450000-12478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
14	chr18:12456800-12477400	Weak transcription	Fetal Kidney	kidney
15	chr18:12457800-12477600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:12459600-12477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12459600-12478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12460200-12478200	Weak transcription	NH-A	brain
19	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:12460400-12477600	Weak transcription	Lung	lung
21	chr18:12460400-12478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:12461200-12478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:12461400-12477600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:12461600-12477600	Weak transcription	Liver	Liver
27	chr18:12461800-12477600	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:12461800-12478200	Weak transcription	HepG2	liver
29	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:12463200-12477600	Weak transcription	NHLF	lung
31	chr18:12463400-12477000	Weak transcription	Fetal Lung	lung
32	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
34	chr18:12463600-12477000	Weak transcription	Placenta	Placenta
35	chr18:12464200-12474200	Weak transcription	HUVEC	blood vessel
36	chr18:12465000-12474800	Weak transcription	Osteobl	bone
37	chr18:12465000-12477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
39	chr18:12465200-12477600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:12465200-12477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:12465400-12475000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:12465400-12477000	Weak transcription	Left Ventricle	heart
43	chr18:12465400-12477000	Weak transcription	HSMMtube	muscle
44	chr18:12465400-12477600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:12465400-12477600	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12465400-12477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:12465400-12478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:12465600-12477200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
50	chr18:12465800-12474200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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