Variant report

Variant	rs55854919
Chromosome Location	chr17:18147510-18147511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18141114..18143286-chr17:18145998..18147564,2	K562	blood:
2	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
3	chr17:18135872..18138183-chr17:18147458..18150169,3	K562	blood:
4	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
5	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:

Variant related genes	Relation type
ENSG00000131899	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60814048	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288279	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288297	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288302	0.93[AFR][1000 genomes]
rs73289913	0.83[AMR][1000 genomes]
rs8071028	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
3	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
5	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
6	chr17:18130400-18148200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:18130600-18148200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:18131200-18148400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:18134600-18149600	Strong transcription	Fetal Intestine Small	intestine
10	chr17:18134600-18150800	Weak transcription	Fetal Brain Male	brain
11	chr17:18134600-18150800	Strong transcription	Fetal Stomach	stomach
12	chr17:18135000-18149400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:18135200-18149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:18135200-18149400	Strong transcription	Fetal Intestine Large	intestine
15	chr17:18135200-18149600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:18135200-18150000	Strong transcription	Fetal Muscle Leg	muscle
17	chr17:18135200-18150600	Strong transcription	Brain Germinal Matrix	brain
18	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
19	chr17:18135400-18149800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:18135400-18150000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:18135400-18150000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:18135400-18159600	Strong transcription	Primary T cells from cord blood	blood
23	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
24	chr17:18135600-18149600	Strong transcription	Placenta	Placenta
25	chr17:18135600-18149800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:18135600-18149800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:18135600-18150600	Strong transcription	Adipose Nuclei	Adipose
28	chr17:18135600-18159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:18135600-18159400	Strong transcription	Fetal Lung	lung
30	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:18135800-18149600	Strong transcription	Gastric	stomach
32	chr17:18135800-18150000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:18135800-18150600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:18136000-18150000	Strong transcription	Ovary	ovary
36	chr17:18136000-18159800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr17:18136000-18160000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:18136200-18149800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:18136200-18150800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:18136200-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:18136200-18160000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:18136400-18149400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr17:18137000-18150600	Strong transcription	Brain Anterior Caudate	brain
44	chr17:18137000-18151000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr17:18138600-18148200	Weak transcription	HepG2	liver
46	chr17:18139400-18150600	Strong transcription	Brain Angular Gyrus	brain
47	chr17:18139400-18150600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr17:18139400-18159800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:18139600-18148200	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:18139600-18148200	Weak transcription	Stomach Mucosa	stomach

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