Variant report

Variant	rs7714950
Chromosome Location	chr5:7851923-7851924
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	ZNF263	chr5:7850943-7852209	HEK293-T-REx	kidney:	n/a	chr5:7851365-7851386
2	EP300	chr5:7851627-7852225	T-47D	breast:	n/a	chr5:7852188-7852197
3	FOXA1	chr5:7851602-7852173	HepG2	liver:	n/a	chr5:7851991-7852003 chr5:7851902-7851917 chr5:7851987-7851999
4	FOXA1	chr5:7851595-7852149	HepG2	liver:	n/a	chr5:7851991-7852003 chr5:7851902-7851917 chr5:7851987-7851999
5	MAFK	chr5:7851603-7852109	HepG2	liver:	n/a	n/a
6	MAX	chr5:7851052-7852091	HepG2	liver:	n/a	n/a
7	BRCA1	chr5:7851878-7852007	GM12878	blood:	n/a	n/a
8	MAFF	chr5:7851742-7852000	HepG2	liver:	n/a	n/a
9	ESR1	chr5:7851731-7852204	T-47D	breast:	n/a	n/a
10	GATA3	chr5:7851676-7852363	T-47D	breast:	n/a	chr5:7852189-7852199
11	GATA3	chr5:7851489-7852622	MCF-7	breast:	n/a	chr5:7852189-7852199
12	FOXA1	chr5:7851615-7852123	HepG2	liver:	n/a	chr5:7851991-7852003 chr5:7851902-7851917 chr5:7851987-7851999
13	MAFK	chr5:7851759-7851973	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:7851667-7852079	HepG2	liver:	n/a	n/a
15	EP300	chr5:7851850-7852303	T-47D	breast:	n/a	chr5:7852188-7852197
16	KAP1	chr5:7851239-7851940	HEK293	kidney:	n/a	n/a
17	FOXA2	chr5:7851756-7852024	HepG2	liver:	n/a	chr5:7851991-7852003 chr5:7851987-7851999
18	HDAC2	chr5:7851686-7852264	MCF-7	breast:	n/a	n/a
19	MXI1	chr5:7851738-7852253	HepG2	liver:	n/a	n/a
20	FOXA1	chr5:7851705-7852261	T-47D	breast:	n/a	chr5:7851991-7852003 chr5:7851902-7851917 chr5:7851987-7851999
21	FOXA1	chr5:7851686-7852205	T-47D	breast:	n/a	chr5:7851991-7852003 chr5:7851902-7851917 chr5:7851987-7851999
22	ESR1	chr5:7851733-7852177	T-47D	breast:	n/a	n/a
23	ARID3A	chr5:7851690-7852042	HepG2	liver:	n/a	n/a
24	GATA3	chr5:7851629-7852339	T-47D	breast:	n/a	chr5:7852189-7852199

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7850851..7852971-chr5:7863121..7865145,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:

Variant related genes	Relation type
C5orf49	TF binding region
ENSG00000124275	Chromatin interaction
ENSG00000124279	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1005101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1108209	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12653983	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563911	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1993716	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1993717	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57110438	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57580763	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73737638	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3436798	chr5:7849477-7852325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3440712	chr5:7849552-7852150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849800-7852000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:7849800-7852000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:7850000-7852200	Active TSS	Brain Anterior Caudate	brain
4	chr5:7850000-7852200	Active TSS	Fetal Kidney	kidney
5	chr5:7850000-7852400	Enhancers	Spleen	Spleen
6	chr5:7851000-7853000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:7851200-7852800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:7851200-7859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:7851400-7852000	Flanking Active TSS	HepG2	liver
10	chr5:7851400-7852200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr5:7851400-7852400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:7851400-7852600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:7851400-7852800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr5:7851400-7852800	Enhancers	Lung	lung
15	chr5:7851400-7852800	Enhancers	Right Atrium	heart
16	chr5:7851400-7853200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:7851400-7857800	Weak transcription	Left Ventricle	heart
18	chr5:7851400-7858000	Weak transcription	HSMM	muscle
19	chr5:7851400-7859600	Weak transcription	Esophagus	oesophagus
20	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:7851600-7852000	Bivalent Enhancer	Primary T cells from cord blood	blood
22	chr5:7851600-7852000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr5:7851600-7852000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr5:7851600-7852200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:7851600-7852200	Enhancers	Gastric	stomach
26	chr5:7851600-7852200	Bivalent Enhancer	A549	lung
27	chr5:7851600-7852400	Active TSS	Fetal Brain Male	brain
28	chr5:7851600-7852600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:7851600-7852600	Bivalent Enhancer	Placenta	Placenta
30	chr5:7851600-7852800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:7851600-7852800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:7851600-7852800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:7851600-7852800	Enhancers	Pancreas	Pancrea
34	chr5:7851600-7853400	Enhancers	Fetal Lung	lung
35	chr5:7851600-7853400	Enhancers	Ovary	ovary
36	chr5:7851600-7857000	Weak transcription	Fetal Stomach	stomach
37	chr5:7851600-7857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:7851600-7857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:7851600-7857600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:7851600-7857600	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:7851600-7857800	Weak transcription	Brain Angular Gyrus	brain
42	chr5:7851600-7857800	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:7851600-7857800	Weak transcription	Fetal Intestine Large	intestine
44	chr5:7851600-7858000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:7851600-7858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:7851600-7859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:7851600-7859200	Weak transcription	Fetal Brain Female	brain
48	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
49	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
50	chr5:7851600-7860000	Weak transcription	Aorta	Aorta

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