Variant report

Variant	rs4803740
Chromosome Location	chr19:45193125-45193126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45151646..45153509-chr19:45191754..45194154,2	MCF-7	breast:
2	chr19:45188304..45193849-chr19:45197312..45200254,4	K562	blood:
3	chr19:45192588..45195517-chr19:45250101..45253474,5	MCF-7	breast:
4	chr19:45192349..45194875-chr19:45196468..45199785,3	K562	blood:
5	chr19:45193090..45195982-chr19:45196210..45199723,4	MCF-7	breast:
6	chr19:45191851..45194664-chr19:45200401..45201949,2	K562	blood:
7	chr19:45191325..45194588-chr19:45346772..45349538,4	MCF-7	breast:
8	chr19:45193034..45198920-chr19:45224756..45231512,9	MCF-7	breast:
9	chr19:45192326..45193138-chr19:45251815..45252367,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000073008	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12984266	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35401363	0.82[EUR][1000 genomes]
rs62119329	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45166000-45197400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:45181600-45198800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:45182400-45195200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:45185000-45195000	Weak transcription	HSMMtube	muscle
5	chr19:45185600-45193400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:45187200-45195200	Weak transcription	Ovary	ovary
7	chr19:45188400-45195400	Weak transcription	Fetal Heart	heart
8	chr19:45188600-45195200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:45189400-45195000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:45189400-45195000	Weak transcription	NHLF	lung
11	chr19:45189600-45195000	Weak transcription	NH-A	brain
12	chr19:45189600-45195000	Weak transcription	NHDF-Ad	bronchial
13	chr19:45189600-45195000	Weak transcription	Osteobl	bone
14	chr19:45190200-45194800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:45190600-45195000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:45190600-45195000	Weak transcription	HSMM	muscle
17	chr19:45191400-45193600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:45191600-45195000	Weak transcription	Primary B cells from cord blood	blood
19	chr19:45192200-45193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:45192400-45193200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:45192400-45193400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:45192400-45193400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:45192400-45193400	Enhancers	Adipose Nuclei	Adipose
24	chr19:45192400-45193400	Enhancers	Colonic Mucosa	Colon
25	chr19:45192400-45193400	Enhancers	Esophagus	oesophagus
26	chr19:45192400-45193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:45192400-45193400	Enhancers	Fetal Muscle Trunk	muscle
28	chr19:45192400-45193400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr19:45192400-45193400	Enhancers	Stomach Mucosa	stomach
30	chr19:45192400-45193400	Enhancers	Spleen	Spleen
31	chr19:45192400-45193400	Flanking Active TSS	A549	lung
32	chr19:45192400-45193400	Enhancers	HUVEC	blood vessel
33	chr19:45192400-45193600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:45192400-45193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:45192400-45193600	Enhancers	Lung	lung
36	chr19:45192400-45193600	Enhancers	Pancreas	Pancrea
37	chr19:45192400-45193600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr19:45192400-45193800	Enhancers	Hela-S3	cervix
39	chr19:45192400-45195000	Enhancers	GM12878-XiMat	blood
40	chr19:45192400-45202000	Enhancers	Liver	Liver
41	chr19:45192600-45193200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr19:45192600-45193200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:45192600-45193400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:45192600-45193400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:45192600-45193600	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:45192600-45193600	Enhancers	Fetal Intestine Large	intestine
47	chr19:45192600-45193600	Enhancers	Fetal Intestine Small	intestine
48	chr19:45192600-45193600	Flanking Active TSS	HepG2	liver
49	chr19:45192600-45195000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:45192600-45195000	Weak transcription	NHEK	skin

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