Variant report

Variant	rs13141016
Chromosome Location	chr4:57937862-57937863
allele	A/G
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	CEBPB	chr4:57937527-57937867	HepG2	liver:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
2	MAX	chr4:57937482-57937939	NB4	blood:	n/a	n/a
3	MXI1	chr4:57937141-57938110	IMR90	lung:	n/a	n/a
4	KAP1	chr4:57936665-57937892	HEK293	kidney:	n/a	n/a
5	CEBPB	chr4:57937491-57937863	Hela-S3	cervix:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
6	CEBPB	chr4:57937405-57937922	A549	lung:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
7	CEBPB	chr4:57937468-57937931	IMR90	lung:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
8	MYC	chr4:57937535-57937913	NB4	blood:	n/a	n/a
9	RCOR1	chr4:57937081-57938149	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
UBE2CP3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10516163	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722333	0.81[AMR][1000 genomes]
rs1277291	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1277292	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1277293	0.80[JPT][hapmap]
rs13117875	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1614526	0.90[JPT][hapmap]
rs1714005	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs1714019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1714021	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1714022	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1718843	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1718854	0.80[JPT][hapmap]
rs1718855	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1718856	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1718870	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3393902	chr4:57935600-57939401	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
4	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
5	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
7	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
8	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
11	chr4:57935800-57938800	Weak transcription	Right Ventricle	heart
12	chr4:57935800-57940000	Weak transcription	Spleen	Spleen
13	chr4:57935800-57941000	Weak transcription	HUVEC	blood vessel
14	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:57936000-57938000	Enhancers	HMEC	breast
17	chr4:57936200-57938000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:57936200-57938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:57936200-57938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:57936400-57938000	Enhancers	NHEK	skin
22	chr4:57936400-57939200	Enhancers	A549	lung
23	chr4:57936400-57942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:57936600-57938000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:57936600-57938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:57936800-57938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:57936800-57938000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:57936800-57938000	Enhancers	Brain Hippocampus Middle	brain
29	chr4:57936800-57938000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:57936800-57938000	Enhancers	Fetal Lung	lung
31	chr4:57936800-57938000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr4:57936800-57938000	Enhancers	NHLF	lung
33	chr4:57936800-57938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57937000-57938000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:57937000-57938200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:57937200-57938000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:57937200-57938000	Enhancers	HSMMtube	muscle
38	chr4:57937200-57939200	Enhancers	Fetal Heart	heart
39	chr4:57937200-57939600	Enhancers	Right Atrium	heart
40	chr4:57937200-57940600	Enhancers	Left Ventricle	heart
41	chr4:57937400-57938000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:57937400-57938000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:57937400-57938000	Enhancers	Fetal Kidney	kidney
44	chr4:57937400-57938000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:57937400-57941400	Weak transcription	Fetal Intestine Large	intestine
46	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:57937600-57938000	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:57937600-57938000	Enhancers	NH-A	brain
49	chr4:57937600-57940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:57937600-57940600	Weak transcription	Small Intestine	intestine

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