Variant report

Variant	rs2283627
Chromosome Location	chr19:19305265-19305266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:19305245-19305902	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr19:19305172-19306017	ECC-1	luminal epithelium:	n/a	chr19:19305396-19305407
3	CEBPB	chr19:19305261-19305576	IMR90	lung:	n/a	chr19:19305396-19305407
4	CEBPB	chr19:19305236-19305556	K562	blood:	n/a	chr19:19305396-19305407
5	TCF12	chr19:19305248-19305950	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr19:19305263-19305524	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr19:19305260-19305573	K562	blood:	n/a	chr19:19305396-19305407
8	EP300	chr19:19305239-19306018	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19303809..19306527-chr19:19495529..19497596,2	K562	blood:
2	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
3	chr19:19302763..19305800-chr19:19307599..19310833,3	MCF-7	breast:
4	chr19:19304004..19306841-chr19:19429725..19433437,3	MCF-7	breast:
5	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
6	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
7	chr19:19301788..19305469-chr19:19308325..19310505,4	K562	blood:
8	chr19:19303122..19305309-chr19:19496096..19498095,2	K562	blood:
9	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
10	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:

No data

Variant related genes	Relation type
MEF2BNB	TF binding region
MEF2B	TF binding region
RFXANK	TF binding region
MEF2BNB-MEF2B	TF binding region
ENSG00000184162	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403859	0.88[EUR][1000 genomes]
rs10406659	0.84[EUR][1000 genomes]
rs10411761	0.88[EUR][1000 genomes]
rs10418279	0.84[EUR][1000 genomes]
rs10424369	0.88[EUR][1000 genomes]
rs11667950	0.88[EUR][1000 genomes]
rs11668677	0.88[EUR][1000 genomes]
rs11668734	0.88[EUR][1000 genomes]
rs11671527	0.88[EUR][1000 genomes]
rs11672216	0.88[EUR][1000 genomes]
rs13345554	0.88[EUR][1000 genomes]
rs2228600	0.88[EUR][1000 genomes]
rs2238674	0.92[EUR][1000 genomes]
rs28393849	0.84[EUR][1000 genomes]
rs28409009	0.84[EUR][1000 genomes]
rs28446016	0.84[EUR][1000 genomes]
rs28508263	0.84[EUR][1000 genomes]
rs28510494	0.84[EUR][1000 genomes]
rs28541794	0.84[EUR][1000 genomes]
rs28838696	0.84[EUR][1000 genomes]
rs34673002	0.88[EUR][1000 genomes]
rs35583425	0.88[EUR][1000 genomes]
rs3761080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73922843	0.88[EUR][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19304200-19305400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:19304200-19305600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr19:19304200-19305600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:19304200-19305600	Enhancers	Esophagus	oesophagus
5	chr19:19304200-19306200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:19304200-19306200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:19304200-19306200	Enhancers	Fetal Brain Male	brain
8	chr19:19304200-19307000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:19304200-19307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:19304200-19307800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19304200-19307800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:19304200-19307800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:19304200-19307800	Weak transcription	Aorta	Aorta
14	chr19:19304200-19307800	Weak transcription	Fetal Brain Female	brain
15	chr19:19304200-19307800	Weak transcription	Ovary	ovary
16	chr19:19304200-19313400	Weak transcription	Fetal Kidney	kidney
17	chr19:19304200-19313400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:19304400-19305400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:19304400-19305400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr19:19304400-19305600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:19304400-19305600	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:19304400-19305600	Enhancers	Lung	lung
23	chr19:19304400-19305800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr19:19304400-19305800	Enhancers	Right Ventricle	heart
25	chr19:19304400-19306600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:19304400-19307600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:19304400-19307600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:19304400-19307800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:19304600-19305400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:19304600-19305400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:19304600-19305400	Enhancers	Fetal Lung	lung
32	chr19:19304600-19305600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:19304600-19305600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:19304600-19305600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr19:19304600-19305600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr19:19304600-19305800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:19304600-19305800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:19304600-19305800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:19304600-19305800	Enhancers	Colon Smooth Muscle	Colon
40	chr19:19304600-19305800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr19:19304600-19305800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr19:19304600-19305800	Genic enhancers	Fetal Stomach	stomach
43	chr19:19304600-19306000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:19304600-19306200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:19304600-19306400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:19304600-19307200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:19304600-19307200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:19304600-19307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:19304600-19307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:19304600-19312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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