Variant report

Variant	rs61990716
Chromosome Location	chr14:78265921-78265922
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	PAX5	chr14:78265896-78267064	GM12878	blood:	n/a	chr14:78266733-78266752
2	HCFC1	chr14:78265899-78267447	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr14:78265909-78267783	SK-N-SH	brain:	n/a	chr14:78266422-78266431 chr14:78266275-78266290 chr14:78266705-78266714 chr14:78266300-78266309 chr14:78266703-78266712 chr14:78266703-78266712

No.	Distal block	Cell Line	Cell type
1	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
2	chr14:78227205..78229069-chr14:78264195..78266638,2	MCF-7	breast:
3	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:

Variant related genes	Relation type
ADCK1	TF binding region
ENSG00000268208	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000197734	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1030151	0.94[EUR][1000 genomes]
rs1030152	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17106259	0.93[EUR][1000 genomes]
rs17106364	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45519831	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45611739	0.93[EUR][1000 genomes]
rs4899669	0.83[EUR][1000 genomes]
rs4899671	0.83[EUR][1000 genomes]
rs4899672	0.83[EUR][1000 genomes]
rs4903628	0.83[EUR][1000 genomes]
rs4903630	0.83[EUR][1000 genomes]
rs4903633	0.89[EUR][1000 genomes]
rs57485881	1.00[EUR][1000 genomes]
rs57654091	0.94[EUR][1000 genomes]
rs58390480	0.83[EUR][1000 genomes]
rs60228583	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61435552	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990683	0.93[EUR][1000 genomes]
rs61990684	0.94[EUR][1000 genomes]
rs61990686	1.00[EUR][1000 genomes]
rs61990688	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990689	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990690	1.00[EUR][1000 genomes]
rs61990695	1.00[EUR][1000 genomes]
rs61990717	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990718	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990719	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990721	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990722	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61992865	0.80[EUR][1000 genomes]
rs61992869	0.80[EUR][1000 genomes]
rs61992912	0.83[EUR][1000 genomes]
rs61992917	0.83[EUR][1000 genomes]
rs61992919	0.83[EUR][1000 genomes]
rs61992921	0.86[EUR][1000 genomes]
rs61993669	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993672	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6574390	0.93[EUR][1000 genomes]
rs7143265	0.83[EUR][1000 genomes]
rs7143382	0.83[EUR][1000 genomes]
rs7146446	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147748	0.83[EUR][1000 genomes]
rs7152638	0.80[EUR][1000 genomes]
rs7156186	1.00[EUR][1000 genomes]
rs7156905	0.90[EUR][1000 genomes]
rs7160307	0.83[EUR][1000 genomes]
rs8007598	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014720	0.83[EUR][1000 genomes]
rs8019064	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61990716	RPL21P10	cis	Artery Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78253800-78266200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:78259600-78266200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78262200-78266000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:78262200-78266000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:78262400-78266000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:78262400-78266000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:78262400-78266000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:78262400-78266000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:78262400-78266000	Weak transcription	NH-A	brain
10	chr14:78262400-78266200	Weak transcription	HMEC	breast
11	chr14:78262400-78266200	Weak transcription	NHDF-Ad	bronchial
12	chr14:78262600-78266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:78262600-78266000	Weak transcription	Osteobl	bone
14	chr14:78262600-78266200	Weak transcription	NHLF	lung
15	chr14:78263000-78266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:78263000-78266000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:78263000-78266000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:78263000-78266000	Weak transcription	Adipose Nuclei	Adipose
19	chr14:78263000-78266000	Weak transcription	A549	lung
20	chr14:78263000-78266000	Weak transcription	NHEK	skin
21	chr14:78263000-78266200	Weak transcription	Stomach Mucosa	stomach
22	chr14:78263000-78266200	Weak transcription	HSMMtube	muscle
23	chr14:78263200-78266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:78263200-78266200	Weak transcription	Psoas Muscle	Psoas
25	chr14:78263400-78266000	Weak transcription	Placenta	Placenta
26	chr14:78263400-78266000	Weak transcription	GM12878-XiMat	blood
27	chr14:78263800-78266000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:78264000-78266000	Weak transcription	HepG2	liver
29	chr14:78264600-78266000	Weak transcription	Hela-S3	cervix
30	chr14:78265400-78266200	Weak transcription	Left Ventricle	heart
31	chr14:78265600-78267000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:78265800-78266000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:78265800-78266000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:78265800-78266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:78265800-78266000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:78265800-78266000	Enhancers	Liver	Liver
37	chr14:78265800-78266000	Enhancers	Fetal Intestine Large	intestine
38	chr14:78265800-78266000	Enhancers	Fetal Muscle Trunk	muscle
39	chr14:78265800-78266000	Enhancers	Right Ventricle	heart
40	chr14:78265800-78266000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:78265800-78266000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr14:78265800-78266000	Enhancers	K562	blood
43	chr14:78265800-78266200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:78265800-78266200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:78265800-78266200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:78265800-78266200	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:78265800-78266200	Enhancers	Lung	lung
48	chr14:78265800-78266200	Enhancers	Pancreas	Pancrea
49	chr14:78265800-78266400	Enhancers	Spleen	Spleen
50	chr14:78265800-78266400	Flanking Active TSS	Dnd41	blood

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