Variant report

Variant	rs59210450
Chromosome Location	chr19:19300850-19300851
allele	A/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	POLR2A	chr19:19300325-19300993	HepG2	liver:	n/a	n/a
2	ZNF263	chr19:19300785-19301015	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19296821..19298878-chr19:19300164..19303100,3	MCF-7	breast:
2	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
3	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
4	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:

Variant related genes	Relation type
MEF2BNB	TF binding region
RFXANK	TF binding region
ENSG00000064490	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000184162	Chromatin interaction
ENSG00000254901	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55840140	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56738402	0.85[AMR][1000 genomes]
rs56800592	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57379914	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60103595	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60666927	0.85[AMR][1000 genomes]
rs60973674	0.85[AMR][1000 genomes]
rs7255275	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7256074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922821	0.85[AMR][1000 genomes]
rs73922822	0.85[AMR][1000 genomes]
rs73922823	0.85[AMR][1000 genomes]
rs73922826	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922830	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922832	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73922833	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19280800-19301600	Weak transcription	NHEK	skin
2	chr19:19281600-19302000	Weak transcription	NH-A	brain
3	chr19:19281600-19302200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:19281800-19301200	Weak transcription	Stomach Mucosa	stomach
5	chr19:19282000-19301600	Weak transcription	Fetal Heart	heart
6	chr19:19283400-19301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:19283400-19302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:19283400-19302200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:19283600-19301800	Weak transcription	HSMMtube	muscle
10	chr19:19284200-19302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:19285600-19301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:19286000-19301000	Weak transcription	HepG2	liver
13	chr19:19286000-19302000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:19291800-19301600	Weak transcription	A549	lung
15	chr19:19292800-19301600	Weak transcription	HMEC	breast
16	chr19:19293600-19301000	Weak transcription	Osteobl	bone
17	chr19:19293600-19301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:19293600-19301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:19293600-19301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:19293600-19302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:19293600-19302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:19293600-19302200	Weak transcription	Aorta	Aorta
23	chr19:19295800-19301800	Weak transcription	Fetal Kidney	kidney
24	chr19:19296400-19301600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:19297800-19301000	Weak transcription	Primary B cells from cord blood	blood
26	chr19:19297800-19301200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:19297800-19301200	Weak transcription	Fetal Intestine Large	intestine
28	chr19:19297800-19301200	Weak transcription	Fetal Thymus	thymus
29	chr19:19297800-19301600	Weak transcription	K562	blood
30	chr19:19298000-19301000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:19298000-19301000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:19298000-19301000	Weak transcription	Brain Anterior Caudate	brain
33	chr19:19298000-19301200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:19298000-19301200	Weak transcription	GM12878-XiMat	blood
35	chr19:19298000-19301600	Weak transcription	Fetal Lung	lung
36	chr19:19298000-19301600	Weak transcription	HSMM	muscle
37	chr19:19298000-19301600	Weak transcription	NHLF	lung
38	chr19:19298000-19302000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:19298000-19302000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:19298200-19301000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:19298200-19301200	Weak transcription	Colonic Mucosa	Colon
42	chr19:19299000-19301200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:19299200-19301400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:19299200-19301400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:19299200-19302000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:19299200-19302200	Enhancers	Spleen	Spleen
47	chr19:19299400-19301000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:19299400-19301200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:19299400-19301400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr19:19299400-19301400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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