Variant report

Variant	rs914701
Chromosome Location	chr10:45471422-45471423
allele	C/T
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	chr10:45426678..45428465-chr10:45470543..45473248,2	MCF-7	breast:
2	chr10:45358904..45360461-chr10:45469985..45472068,2	MCF-7	breast:
3	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:
4	chr10:45448181..45450867-chr10:45471052..45472632,2	K562	blood:
5	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:
6	chr10:45359058..45361978-chr10:45470827..45473686,2	K562	blood:
7	chr10:45470718..45473140-chr10:45500575..45504463,3	K562	blood:
8	chr10:45443298..45445238-chr10:45469155..45471485,2	MCF-7	breast:
9	chr10:45467811..45472693-chr10:45495081..45499604,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107551	Chromatin interaction
ENSG00000165511	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000165512	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11818604	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818623	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740094	0.84[ASN][1000 genomes]
rs3740097	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3758401	0.91[EUR][1000 genomes]
rs869156	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs882845	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs883733	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883734	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883735	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs914700	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs914701	RASSF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45468000-45471800	Enhancers	Fetal Heart	heart
2	chr10:45468600-45471600	Enhancers	Dnd41	blood
3	chr10:45469000-45472000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:45469600-45473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:45470000-45471800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:45470000-45472200	Active TSS	Aorta	Aorta
7	chr10:45470200-45471600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:45470200-45471800	Active TSS	Ovary	ovary
9	chr10:45470200-45472000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:45470200-45473000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr10:45470400-45471600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:45470400-45471800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:45470400-45472600	Weak transcription	Small Intestine	intestine
14	chr10:45470600-45472000	Enhancers	Fetal Lung	lung
15	chr10:45470600-45473600	Weak transcription	Primary T cells from cord blood	blood
16	chr10:45470600-45473800	Enhancers	Fetal Thymus	thymus
17	chr10:45470600-45474000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:45470600-45474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:45470800-45471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:45470800-45471600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:45470800-45471600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:45470800-45471600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:45470800-45471600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:45470800-45471600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:45470800-45471600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:45470800-45471600	Enhancers	A549	lung
27	chr10:45470800-45471600	Enhancers	K562	blood
28	chr10:45470800-45471800	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:45470800-45471800	Active TSS	Brain Hippocampus Middle	brain
30	chr10:45470800-45471800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:45470800-45471800	Enhancers	NHDF-Ad	bronchial
32	chr10:45470800-45472000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:45470800-45472000	Enhancers	Colon Smooth Muscle	Colon
34	chr10:45470800-45472000	Enhancers	Esophagus	oesophagus
35	chr10:45470800-45472000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:45470800-45472000	Enhancers	Fetal Stomach	stomach
37	chr10:45470800-45472000	Enhancers	Spleen	Spleen
38	chr10:45470800-45472200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:45470800-45472200	Enhancers	NH-A	brain
40	chr10:45470800-45472800	Weak transcription	Brain Germinal Matrix	brain
41	chr10:45470800-45473000	Enhancers	Fetal Intestine Large	intestine
42	chr10:45470800-45473000	Weak transcription	HSMM	muscle
43	chr10:45470800-45473200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:45470800-45473200	Weak transcription	Fetal Brain Female	brain
45	chr10:45470800-45473400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:45470800-45473400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr10:45470800-45473400	Weak transcription	Hela-S3	cervix
48	chr10:45470800-45473600	Weak transcription	Fetal Kidney	kidney
49	chr10:45470800-45473800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:45470800-45473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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