Variant report

Variant	rs73749524
Chromosome Location	chr5:14667279-14667280
allele	C/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	HCFC1	chr5:14663672-14668468	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
2	chr5:14664510..14666859-chr5:14666995..14670129,4	MCF-7	breast:
3	chr5:14666421..14668371-chr5:14694301..14697182,2	K562	blood:
4	chr5:14666399..14668895-chr5:14676273..14677945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261360	TF binding region
ENSG00000261360	Chromatin interaction
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11952550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953822	1.00[AMR][1000 genomes]
rs11956097	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55957515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56044433	1.00[AMR][1000 genomes]
rs56155042	1.00[AMR][1000 genomes]
rs56297478	1.00[AMR][1000 genomes]
rs56350972	1.00[AMR][1000 genomes]
rs60753214	0.83[AMR][1000 genomes]
rs73749521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749593	1.00[AMR][1000 genomes]
rs73749595	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749596	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73752121	0.83[AMR][1000 genomes]
rs73752126	1.00[AMR][1000 genomes]
rs73752131	1.00[AMR][1000 genomes]
rs73752132	1.00[AMR][1000 genomes]
rs73752133	1.00[AMR][1000 genomes]
rs73752135	1.00[AMR][1000 genomes]
rs73752138	1.00[AMR][1000 genomes]
rs73752139	1.00[AMR][1000 genomes]
rs73752140	1.00[AMR][1000 genomes]
rs7710316	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14665800-14667400	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:14665800-14667400	Weak transcription	Pancreas	Pancrea
4	chr5:14665800-14667400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:14665800-14668000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:14665800-14668600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:14666000-14667400	Enhancers	Fetal Lung	lung
8	chr5:14666000-14668800	Enhancers	Small Intestine	intestine
9	chr5:14666200-14667600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:14666200-14667800	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:14666200-14668400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:14666200-14668800	Enhancers	Fetal Heart	heart
13	chr5:14666200-14669000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
15	chr5:14666400-14667400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:14666400-14667400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:14666400-14667400	Weak transcription	Esophagus	oesophagus
18	chr5:14666400-14667400	Weak transcription	Gastric	stomach
19	chr5:14666400-14667400	Weak transcription	Lung	lung
20	chr5:14666400-14667400	Weak transcription	Spleen	Spleen
21	chr5:14666400-14667600	Enhancers	Fetal Intestine Small	intestine
22	chr5:14666400-14667600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:14666400-14668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:14666400-14668400	Enhancers	Colon Smooth Muscle	Colon
25	chr5:14666400-14669200	Enhancers	Fetal Intestine Large	intestine
26	chr5:14666400-14669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
28	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
33	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:14666400-14688200	Weak transcription	Ovary	ovary
36	chr5:14666600-14667400	Active TSS	GM12878-XiMat	blood
37	chr5:14666600-14667800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:14666600-14668000	Weak transcription	Colonic Mucosa	Colon
39	chr5:14666600-14668400	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr5:14666600-14669600	Weak transcription	NH-A	brain
41	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
45	chr5:14666800-14667400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:14666800-14667400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:14666800-14667400	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:14666800-14667400	Weak transcription	Fetal Thymus	thymus
49	chr5:14666800-14667400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:14666800-14667400	Enhancers	HUVEC	blood vessel

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