Variant report

Variant	rs4304701
Chromosome Location	chr10:99175084-99175085
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:99165782..99177128-chr10:99179856..99189832,30	MCF-7	breast:
2	chr10:99159566..99161975-chr10:99171116..99175343,4	K562	blood:
3	chr10:99171315..99175453-chr10:99176654..99180468,6	K562	blood:
4	chr10:99173253..99176623-chr10:99184146..99187846,4	K562	blood:
5	chr10:99174155..99176594-chr10:99178151..99179962,2	MCF-7	breast:
6	chr10:99173227..99177887-chr10:99178891..99183269,7	K562	blood:
7	chr10:99172474..99176419-chr10:99183924..99185972,3	K562	blood:
8	chr10:99167036..99170302-chr10:99173339..99176571,3	MCF-7	breast:
9	chr10:99172592..99175425-chr20:52209106..52210731,2	MCF-7	breast:
10	chr10:99172460..99176520-chr10:99201147..99207313,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171311	Chromatin interaction
ENSG00000200737	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000224474	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2861955	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7074007	1.00[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7081796	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7090847	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs764223	0.91[CHB][hapmap]
rs928603	0.91[CHB][hapmap]

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	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4304701	RRP12	cis	Muscle Skeletal	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99161600-99178800	Weak transcription	Fetal Stomach	stomach
2	chr10:99161600-99185200	Weak transcription	Pancreas	Pancrea
3	chr10:99167400-99176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:99167400-99178000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:99167400-99179000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:99167400-99185200	Weak transcription	Fetal Lung	lung
7	chr10:99167400-99185400	Weak transcription	Gastric	stomach
8	chr10:99167600-99177800	Weak transcription	Fetal Intestine Large	intestine
9	chr10:99167600-99178000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:99167600-99178400	Weak transcription	Right Atrium	heart
11	chr10:99167600-99185200	Weak transcription	Fetal Intestine Small	intestine
12	chr10:99167600-99185200	Weak transcription	Left Ventricle	heart
13	chr10:99167800-99178000	Weak transcription	A549	lung
14	chr10:99168800-99178000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:99169400-99175200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr10:99170600-99175200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:99171200-99175200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:99171400-99177800	Weak transcription	Fetal Kidney	kidney
19	chr10:99171400-99179400	Weak transcription	Spleen	Spleen
20	chr10:99171400-99185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:99171600-99178000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:99171800-99175200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:99172200-99175200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:99172200-99175200	Enhancers	HMEC	breast
25	chr10:99172400-99175200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:99172400-99175200	Enhancers	Primary T cells from cord blood	blood
27	chr10:99172400-99176800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:99172400-99177200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:99172400-99177400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr10:99172600-99175200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:99172600-99175200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr10:99172600-99175400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr10:99172600-99175600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:99172600-99177400	Enhancers	Fetal Thymus	thymus
35	chr10:99172800-99175200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:99172800-99177000	Enhancers	Thymus	Thymus
37	chr10:99172800-99178200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr10:99173000-99176400	Weak transcription	Placenta	Placenta
39	chr10:99173200-99175200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr10:99173200-99175200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr10:99173200-99175200	Enhancers	NHEK	skin
42	chr10:99173200-99182800	Weak transcription	HUVEC	blood vessel
43	chr10:99173400-99175200	Enhancers	Osteobl	bone
44	chr10:99173600-99175200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:99173600-99175200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:99173600-99175200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:99173600-99175200	Enhancers	NH-A	brain
48	chr10:99173600-99178000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:99173800-99175200	Flanking Active TSS	K562	blood
50	chr10:99173800-99176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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