Variant report

Variant	rs547978135
Chromosome Location	chr18:13062719-13062720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv437176	chr18:13058494-13068132	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv960255	chr18:13062011-13066206	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:13043200-13077800	Strong transcription	Dnd41	blood
5	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
6	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr18:13046000-13063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:13049000-13070400	Weak transcription	Psoas Muscle	Psoas
14	chr18:13049800-13062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:13049800-13068000	Weak transcription	Small Intestine	intestine
16	chr18:13050800-13064800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:13050800-13070800	Weak transcription	Right Atrium	heart
18	chr18:13051600-13063200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:13051800-13063200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:13052000-13064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:13052200-13078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:13052600-13064000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr18:13052600-13064200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr18:13052800-13063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:13053000-13063400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr18:13053000-13063400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr18:13053000-13063600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr18:13053000-13066400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:13054000-13063200	Strong transcription	Primary B cells from cord blood	blood
30	chr18:13054400-13077400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:13056600-13066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:13056600-13068600	Weak transcription	Brain Angular Gyrus	brain
33	chr18:13056600-13083800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:13056600-13095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr18:13057000-13068800	Weak transcription	Brain Substantia Nigra	brain
36	chr18:13057200-13069000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:13057800-13066600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr18:13057800-13068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:13058000-13068000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:13058800-13069000	Weak transcription	Spleen	Spleen
41	chr18:13059000-13064200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:13059000-13069000	Weak transcription	Right Ventricle	heart
43	chr18:13059200-13063200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:13059400-13066600	Weak transcription	Aorta	Aorta
45	chr18:13059400-13068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:13059400-13068600	Weak transcription	Pancreas	Pancrea
47	chr18:13059400-13068800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:13059600-13064200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:13060000-13066600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr18:13060000-13066800	Weak transcription	Fetal Heart	heart

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