Variant report

Variant	rs10793573
Chromosome Location	chr10:45463220-45463221
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	RELA	chr10:45463135-45464520	GM18951	blood:	n/a	n/a
2	POLR2A	chr10:45457577-45464667	GM12878	blood:	n/a	n/a
3	REST	chr10:45463166-45464849	HL-60	blood:	n/a	chr10:45463832-45463842
4	RELA	chr10:45463133-45464058	GM19099	blood:	n/a	n/a
5	SPI1	chr10:45462969-45464111	HL-60	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
6	RELA	chr10:45463068-45464777	GM12891	blood:	n/a	n/a
7	RELA	chr10:45462947-45463922	GM19193	blood:	n/a	n/a
8	EP300	chr10:45463184-45464675	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:45463111-45464849	NB4	blood:	n/a	n/a
10	POLR2A	chr10:45462482-45464971	HL-60	blood:	n/a	n/a
11	POLR2A	chr10:45458224-45466240	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:45462972-45464974	HL-60	blood:	n/a	n/a
13	ELK1	chr10:45462952-45463793	GM12878	blood:	n/a	n/a
14	SPI1	chr10:45463219-45464195	GM12878	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
15	EBF1	chr10:45463059-45464044	GM12878	blood:	n/a	chr10:45463239-45463250
16	NFIC	chr10:45463115-45463885	GM12878	blood:	n/a	n/a
17	MYC	chr10:45463111-45465015	NB4	blood:	n/a	chr10:45464825-45464832
18	SRF	chr10:45462970-45463385	GM12878	blood:	n/a	n/a
19	MAX	chr10:45462487-45464904	NB4	blood:	n/a	chr10:45464825-45464832

No.	Distal block	Cell Line	Cell type
1	chr10:45463003..45464731-chr10:45465412..45467075,2	MCF-7	breast:
2	chr10:45440452..45443413-chr10:45461070..45463781,2	MCF-7	breast:
3	chr10:45462150..45464959-chr10:45472680..45475248,4	MCF-7	breast:
4	chr10:45460257..45463291-chr10:45472761..45475493,4	MCF-7	breast:
5	chr10:45461482..45464427-chr10:45495628..45497764,2	K562	blood:

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000107551	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000165511	Chromatin interaction
ENSG00000165512	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1888983	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3814566	0.96[EUR][1000 genomes]
rs3829908	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948938	0.86[EUR][1000 genomes]
rs72780658	0.80[ASN][1000 genomes]
rs870204	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
rs10793573	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	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
2	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:45455800-45465600	Weak transcription	Ovary	ovary
5	chr10:45456000-45463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:45456200-45463600	Weak transcription	Esophagus	oesophagus
7	chr10:45456200-45465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
9	chr10:45456800-45465200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr10:45456800-45466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:45458000-45465000	Enhancers	Primary B cells from cord blood	blood
12	chr10:45458200-45465000	Enhancers	Thymus	Thymus
13	chr10:45458400-45464200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:45458400-45464400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:45458400-45464800	Enhancers	Primary B cells from peripheral blood	blood
16	chr10:45458400-45465800	Enhancers	Psoas Muscle	Psoas
17	chr10:45458800-45463800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:45458800-45465200	Enhancers	Spleen	Spleen
19	chr10:45459000-45464400	Enhancers	Placenta	Placenta
20	chr10:45459000-45465600	Enhancers	Left Ventricle	heart
21	chr10:45459800-45463800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:45459800-45465200	Enhancers	Right Ventricle	heart
23	chr10:45459800-45465800	Enhancers	Right Atrium	heart
24	chr10:45460000-45464000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:45460000-45464000	Enhancers	Fetal Kidney	kidney
26	chr10:45460000-45470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:45460200-45463800	Weak transcription	Gastric	stomach
28	chr10:45460400-45463400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:45460400-45464000	Enhancers	Fetal Muscle Leg	muscle
30	chr10:45460400-45464400	Weak transcription	Fetal Brain Male	brain
31	chr10:45460400-45464600	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:45460400-45469800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr10:45460600-45463600	Enhancers	Brain Anterior Caudate	brain
34	chr10:45460600-45466200	Weak transcription	Fetal Brain Female	brain
35	chr10:45460800-45464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:45460800-45464800	Enhancers	Fetal Heart	heart
37	chr10:45460800-45465400	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:45461000-45464200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr10:45461200-45463800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr10:45461200-45463800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr10:45461200-45464400	Enhancers	HSMM	muscle
42	chr10:45461200-45464600	Enhancers	Colon Smooth Muscle	Colon
43	chr10:45461200-45466000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr10:45461200-45468200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:45461400-45463400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:45461400-45464400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr10:45461400-45464400	Enhancers	Brain Cingulate Gyrus	brain
48	chr10:45461400-45467000	Weak transcription	Brain Germinal Matrix	brain
49	chr10:45461400-45468400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr10:45461400-45468600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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