Variant report

Variant	rs55728087
Chromosome Location	chr19:18900177-18900178
allele	C/G
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	YY1	chr19:18899594-18900262	H1-hESC	embryonic stem cell:	n/a	chr19:18899912-18899924 chr19:18899902-18899924 chr19:18899914-18899924 chr19:18899867-18899878 chr19:18899939-18899955
2	ZBTB7A	chr19:18899732-18901127	ECC-1	luminal epithelium:	n/a	chr19:18899949-18899957

No.	Distal block	Cell Line	Cell type
1	chr19:18898066..18901050-chr19:18943953..18945970,2	K562	blood:
2	chr19:18898804..18900578-chr19:18921780..18924474,2	K562	blood:
3	chr19:18554334..18556590-chr19:18899437..18901664,2	MCF-7	breast:
4	chr19:18899550..18903298-chr19:18943373..18946094,3	K562	blood:
5	chr19:18895540..18898412-chr19:18899953..18903266,3	MCF-7	breast:

Variant related genes	Relation type
COMP	TF binding region
ENSG00000256989	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105664	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4808166	1.00[AMR][1000 genomes]
rs55733002	1.00[AMR][1000 genomes]
rs55863188	1.00[AMR][1000 genomes]
rs55963536	1.00[AMR][1000 genomes]
rs55982582	1.00[AMR][1000 genomes]
rs56774113	1.00[AMR][1000 genomes]
rs73923132	1.00[AMR][1000 genomes]
rs73923133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18895600-18902400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr19:18898000-18900800	Bivalent Enhancer	Spleen	Spleen
3	chr19:18898000-18901800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:18898200-18901400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18898200-18902000	Enhancers	Gastric	stomach
6	chr19:18898200-18902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:18898200-18902200	Enhancers	Pancreas	Pancrea
8	chr19:18898400-18900200	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr19:18898400-18900200	Bivalent Enhancer	Fetal Thymus	thymus
10	chr19:18898600-18901200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr19:18898600-18901200	Bivalent Enhancer	Lung	lung
12	chr19:18898600-18901800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr19:18898800-18902000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18899000-18900200	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr19:18899000-18900400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr19:18899200-18900600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr19:18899200-18900600	Bivalent Enhancer	Esophagus	oesophagus
18	chr19:18899200-18900600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr19:18899200-18902000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:18899200-18902200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr19:18899200-18902400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:18899400-18900200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:18899400-18900200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr19:18899400-18900200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr19:18899400-18900200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
26	chr19:18899400-18900400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:18899400-18900600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:18899400-18900600	Enhancers	Right Atrium	heart
29	chr19:18899400-18900800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr19:18899400-18900800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr19:18899400-18900800	Bivalent Enhancer	Left Ventricle	heart
32	chr19:18899400-18900800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr19:18899400-18901000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:18899400-18901400	Bivalent Enhancer	Fetal Heart	heart
35	chr19:18899400-18901800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr19:18899400-18902000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:18899400-18902000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:18899400-18902000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr19:18899600-18900200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18899600-18900200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:18899600-18900200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
42	chr19:18899600-18900200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr19:18899600-18900200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
44	chr19:18899600-18900200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:18899600-18900200	Bivalent Enhancer	NHLF	lung
46	chr19:18899600-18900400	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr19:18899600-18900600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:18899600-18900600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:18899600-18900600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:18899600-18900600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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