Variant report

Variant	rs274313
Chromosome Location	chr10:25242947-25242948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:25240181-25244662	K562	blood:	n/a	n/a
2	WRNIP1	chr10:25242613-25243254	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:25239865-25243383	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:25240300-25243435	K562	blood:	n/a	n/a
5	CTCF	chr10:25242840-25242990	Caco-2	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:25242420..25244557-chr10:25246178..25248429,2	MCF-7	breast:
2	chr10:25010212..25016288-chr10:25239162..25243925,7	K562	blood:
3	chr10:25154526..25157379-chr10:25242039..25244548,2	K562	blood:
4	chr10:25009845..25014059-chr10:25240930..25243462,5	MCF-7	breast:
5	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:

No data

Variant related genes	Relation type
PRTFDC1	TF binding region
ENSG00000228667	Chromatin interaction
ENSG00000151023	Chromatin interaction
ENSG00000185875	Chromatin interaction
ENSG00000107863	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1000875	0.82[CHB][hapmap]
rs10508685	0.82[CHB][hapmap]
rs10508686	0.82[CHB][hapmap]
rs10741071	0.82[JPT][hapmap]
rs10741072	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10764515	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs10764518	0.82[CHB][hapmap]
rs10764519	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs10828728	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10828731	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10828741	0.82[CHB][hapmap]
rs10828745	0.82[CHB][hapmap]
rs11014318	0.87[CHB][hapmap];0.96[JPT][hapmap];0.86[ASN][1000 genomes]
rs11014320	0.88[ASN][1000 genomes]
rs11014357	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs12249889	0.81[CHB][hapmap]
rs12256642	0.82[CHB][hapmap]
rs12761282	0.87[ASN][1000 genomes]
rs12784769	0.87[CHB][hapmap]
rs1492608	0.82[CHB][hapmap]
rs1546097	0.82[CHB][hapmap]
rs185669	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs200730	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2031600	0.88[ASN][1000 genomes]
rs2035888	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2131276	0.82[CHB][hapmap]
rs2279547	0.82[CHB][hapmap]
rs2478091	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs274288	0.90[ASN][1000 genomes]
rs274289	0.90[ASN][1000 genomes]
rs274290	0.82[ASN][1000 genomes]
rs274299	0.83[ASN][1000 genomes]
rs274301	0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs274303	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274304	0.89[CEU][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274305	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274306	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274308	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274309	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274310	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274311	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274312	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274316	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2818289	0.86[ASN][1000 genomes]
rs3000491	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3748223	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4345864	0.82[CHB][hapmap]
rs4748996	0.82[CHB][hapmap]
rs612482	0.80[ASN][1000 genomes]
rs6482467	0.82[CHB][hapmap]
rs6482468	0.81[CEU][hapmap]
rs7086282	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs7393543	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs7913853	0.82[CHB][hapmap]
rs902904	0.82[CHB][hapmap]
rs902905	0.82[CHB][hapmap]
rs987274	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25240200-25243000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:25241800-25243000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:25242000-25243000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:25242000-25243000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:25242000-25243000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr10:25242000-25243000	Flanking Active TSS	Fetal Brain Female	brain
7	chr10:25242000-25243000	Enhancers	HMEC	breast
8	chr10:25242000-25243200	Flanking Active TSS	NHDF-Ad	bronchial
9	chr10:25242200-25243000	Enhancers	Stomach Mucosa	stomach
10	chr10:25242200-25246400	Weak transcription	HSMM	muscle
11	chr10:25242200-25247800	Weak transcription	Aorta	Aorta
12	chr10:25242200-25247800	Weak transcription	Left Ventricle	heart
13	chr10:25242200-25248000	Weak transcription	Psoas Muscle	Psoas
14	chr10:25242400-25243000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:25242400-25243000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:25242400-25243000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:25242400-25243000	Enhancers	Fetal Muscle Trunk	muscle
18	chr10:25242400-25243000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr10:25242400-25243000	Enhancers	Small Intestine	intestine
20	chr10:25242400-25243200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:25242400-25243200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:25242400-25243200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:25242400-25243400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:25242400-25243400	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:25242400-25243400	Enhancers	Fetal Muscle Leg	muscle
26	chr10:25242400-25245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:25242400-25246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:25242400-25246600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:25242400-25246800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:25242400-25247400	Weak transcription	Ovary	ovary
31	chr10:25242400-25251400	Weak transcription	Liver	Liver
32	chr10:25242400-25252800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:25242600-25243000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr10:25242600-25243000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:25242600-25243000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:25242600-25243000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:25242600-25243000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr10:25242600-25243000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:25242600-25243000	Enhancers	Brain Germinal Matrix	brain
40	chr10:25242600-25243000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr10:25242600-25243000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:25242600-25243000	Enhancers	Fetal Intestine Small	intestine
43	chr10:25242600-25243000	Enhancers	Rectal Smooth Muscle	rectum
44	chr10:25242600-25243000	Enhancers	A549	lung
45	chr10:25242600-25243200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:25242600-25243400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr10:25242600-25243400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:25242600-25243400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:25242600-25243400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:25242600-25243400	Enhancers	Fetal Stomach	stomach

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