Variant report

Variant	rs58794893
Chromosome Location	chr19:18900482-18900483
allele	A/G/T
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	CTCF	chr19:18900420-18900570	HEK293	kidney:	n/a	chr19:18900488-18900497
2	ZBTB7A	chr19:18899732-18901127	ECC-1	luminal epithelium:	n/a	chr19:18899949-18899957
3	ZBTB7A	chr19:18900279-18901760	ECC-1	luminal epithelium:	n/a	n/a
4	EGR1	chr19:18900388-18900629	K562	blood:	n/a	chr19:18900538-18900553 chr19:18900539-18900552 chr19:18900394-18900404 chr19:18900542-18900552

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
ENSG00000105664	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000256989	Chromatin interaction
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16982626	1.00[AFR][1000 genomes]
rs55780333	0.90[AFR][1000 genomes]
rs55916174	0.90[AFR][1000 genomes]
rs73923156	0.89[AFR][1000 genomes]
rs73923157	0.89[AFR][1000 genomes]
rs73923158	0.89[AFR][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:83 , 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	chr19:18898600-18901200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr19:18898600-18901200	Bivalent Enhancer	Lung	lung
10	chr19:18898600-18901800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr19:18898800-18902000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:18899200-18900600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr19:18899200-18900600	Bivalent Enhancer	Esophagus	oesophagus
14	chr19:18899200-18900600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr19:18899200-18902000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:18899200-18902200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr19:18899200-18902400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:18899400-18900600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:18899400-18900600	Enhancers	Right Atrium	heart
20	chr19:18899400-18900800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr19:18899400-18900800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr19:18899400-18900800	Bivalent Enhancer	Left Ventricle	heart
23	chr19:18899400-18900800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr19:18899400-18901000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18899400-18901400	Bivalent Enhancer	Fetal Heart	heart
26	chr19:18899400-18901800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:18899400-18902000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:18899400-18902000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr19:18899400-18902000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr19:18899600-18900600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:18899600-18900600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:18899600-18900600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:18899600-18900600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr19:18899600-18900800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:18899600-18900800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:18899600-18900800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr19:18899600-18901600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:18899600-18902000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr19:18899600-18902200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr19:18899600-18902200	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr19:18899600-18902400	Bivalent Enhancer	Placenta	Placenta
42	chr19:18899800-18900600	Bivalent Enhancer	Brain Hippocampus Middle	brain
43	chr19:18899800-18900600	Bivalent Enhancer	Colonic Mucosa	Colon
44	chr19:18899800-18900600	Enhancers	Ovary	ovary
45	chr19:18899800-18900600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr19:18899800-18900600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr19:18899800-18901000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:18899800-18901600	Bivalent Enhancer	Fetal Brain Male	brain
49	chr19:18899800-18901800	Bivalent Enhancer	GM12878-XiMat	blood
50	chr19:18899800-18902000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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