Variant report

Variant	rs7255805
Chromosome Location	chr19:18906534-18906535
allele	C/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	EGR1	chr19:18906444-18906664	K562	blood:	n/a	chr19:18906577-18906587 chr19:18906577-18906590
2	GABPA	chr19:18906482-18906773	H1-hESC	embryonic stem cell:	n/a	chr19:18906650-18906659
3	MAZ	chr19:18906288-18906973	IMR90	lung:	n/a	chr19:18906577-18906587
4	MXI1	chr19:18906085-18906818	SK-N-SH	brain:	n/a	n/a
5	EP300	chr19:18906004-18906845	SK-N-SH	brain:	n/a	chr19:18906632-18906648 chr19:18906692-18906708
6	EGR1	chr19:18906425-18906645	K562	blood:	n/a	chr19:18906577-18906587 chr19:18906577-18906590

No.	Distal block	Cell Line	Cell type
1	chr19:18905156..18908288-chr19:18911647..18915646,4	K562	blood:
2	chr19:18906334..18907889-chr19:18952110..18954764,2	MCF-7	breast:
3	chr19:18906335..18910161-chr19:18910812..18915210,5	K562	blood:

Variant related genes	Relation type
COMP	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12462071	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55801653	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18902200-18915200	Weak transcription	Right Atrium	heart
2	chr19:18905600-18907600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:18906200-18906600	Bivalent Enhancer	Brain Hippocampus Middle	brain
4	chr19:18906200-18906600	Bivalent Enhancer	Fetal Lung	lung
5	chr19:18906200-18906800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
6	chr19:18906200-18906800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr19:18906200-18906800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr19:18906200-18907000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr19:18906200-18907200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:18906200-18907200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr19:18906200-18907200	Enhancers	NH-A	brain
12	chr19:18906200-18907400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:18906200-18907400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:18906200-18907400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:18906200-18907400	Enhancers	HMEC	breast
16	chr19:18906200-18907400	Enhancers	HSMMtube	muscle
17	chr19:18906200-18907400	Enhancers	Osteobl	bone
18	chr19:18906200-18907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:18906200-18908800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:18906200-18908800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:18906200-18909600	Enhancers	Fetal Intestine Small	intestine
22	chr19:18906400-18906600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:18906400-18906600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:18906400-18906600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:18906400-18906600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
26	chr19:18906400-18906800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:18906400-18906800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:18906400-18906800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr19:18906400-18906800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:18906400-18906800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:18906400-18906800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:18906400-18906800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18906400-18906800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:18906400-18906800	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr19:18906400-18906800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr19:18906400-18906800	Bivalent Enhancer	Placenta	Placenta
37	chr19:18906400-18906800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr19:18906400-18906800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr19:18906400-18906800	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr19:18906400-18907200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:18906400-18908200	Bivalent Enhancer	Fetal Intestine Large	intestine

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