Variant report

Variant	rs73055578
Chromosome Location	chr5:14183233-14183234
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	EBF1	chr5:14183222-14183504	GM12878	blood:	n/a	chr5:14183382-14183393
2	KAP1	chr5:14183049-14183516	HEK293	kidney:	n/a	n/a
3	POLR2A	chr5:14182828-14183605	PANC-1	pancreas:	n/a	n/a
4	ZNF263	chr5:14181565-14185155	HEK293-T-REx	kidney:	n/a	chr5:14183654-14183663
5	POLR2A	chr5:14182745-14183374	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14143107..14145345-chr5:14183034..14185852,4	MCF-7	breast:
2	chr5:14142296..14145562-chr5:14179804..14183456,3	MCF-7	breast:
3	chr5:14173022..14175208-chr5:14181474..14183850,2	MCF-7	breast:
4	chr5:14176923..14179557-chr5:14181390..14183679,4	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11958958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903280	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16903317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903330	0.87[AMR][1000 genomes]
rs59032427	0.87[AMR][1000 genomes]
rs60615600	0.87[AMR][1000 genomes]
rs61737132	0.87[AMR][1000 genomes]
rs6891552	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055592	1.00[AMR][1000 genomes]
rs73055595	1.00[AMR][1000 genomes]
rs73055596	1.00[AMR][1000 genomes]
rs73055600	1.00[AMR][1000 genomes]
rs73055601	1.00[AMR][1000 genomes]
rs73057505	1.00[AMR][1000 genomes]
rs73057508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057511	1.00[AMR][1000 genomes]
rs73057512	1.00[AMR][1000 genomes]
rs73057521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057593	0.87[AMR][1000 genomes]
rs73057602	0.87[AMR][1000 genomes]
rs73059545	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
2	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
3	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
4	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
5	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
7	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:14178000-14184400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:14178600-14183800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
12	chr5:14178800-14183400	Enhancers	NHDF-Ad	bronchial
13	chr5:14178800-14184000	Enhancers	NH-A	brain
14	chr5:14179000-14184800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:14179200-14183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:14179200-14183800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:14179200-14185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:14179800-14183800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:14179800-14183800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:14180000-14183800	Weak transcription	Pancreas	Pancrea
22	chr5:14180400-14184400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:14180600-14185800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:14180800-14183400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:14180800-14184200	Weak transcription	Hela-S3	cervix
26	chr5:14180800-14185400	Enhancers	HMEC	breast
27	chr5:14180800-14186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:14181000-14183800	Enhancers	Osteobl	bone
29	chr5:14181000-14187600	Enhancers	HUVEC	blood vessel
30	chr5:14181200-14183400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:14181200-14189200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:14181400-14183800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:14181400-14183800	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:14181400-14184000	Enhancers	GM12878-XiMat	blood
35	chr5:14181400-14186400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:14181400-14187600	Enhancers	Fetal Muscle Leg	muscle
37	chr5:14181400-14188600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:14181400-14189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
40	chr5:14181600-14183800	Enhancers	Aorta	Aorta
41	chr5:14181600-14186000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:14181600-14186200	Enhancers	HepG2	liver
43	chr5:14181600-14186400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr5:14181600-14189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:14181800-14183800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:14181800-14186600	Enhancers	Fetal Brain Female	brain
47	chr5:14182000-14185400	Weak transcription	Esophagus	oesophagus
48	chr5:14182000-14185600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:14182000-14185800	Weak transcription	Fetal Thymus	thymus
50	chr5:14182000-14190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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