Variant report

Variant	rs31921
Chromosome Location	chr5:14667830-14667831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:14667737-14668927	GM12878	blood:	n/a	n/a
2	HCFC1	chr5:14663672-14668468	Hela-S3	cervix:	n/a	n/a
3	WRNIP1	chr5:14667322-14668730	GM12878	blood:	n/a	n/a
4	MTA3	chr5:14667817-14668864	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:14667805-14668829	GM12878	blood:	n/a	n/a
6	PML	chr5:14667809-14668861	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:14667585-14668846	GM12878	blood:	n/a	n/a

No data

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

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:
5	chr5:14667600..14670326-chr5:14676712..14678274,2	K562	blood:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10062487	0.86[EUR][1000 genomes]
rs10078335	0.88[EUR][1000 genomes]
rs149181	0.82[ASN][1000 genomes]
rs149493	0.84[ASN][1000 genomes]
rs149617	0.84[ASN][1000 genomes]
rs152788	0.83[ASN][1000 genomes]
rs153829	0.86[ASN][1000 genomes]
rs153830	0.87[ASN][1000 genomes]
rs166127	0.88[ASN][1000 genomes]
rs183681	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs250435	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs250439	0.84[ASN][1000 genomes]
rs250440	0.83[ASN][1000 genomes]
rs250862	0.86[ASN][1000 genomes]
rs251496	0.87[ASN][1000 genomes]
rs258290	0.81[ASN][1000 genomes]
rs258374	0.84[ASN][1000 genomes]
rs25945	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs25951	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs25952	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs25986	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs25987	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs25988	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs25992	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26307	0.83[ASN][1000 genomes]
rs27882	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27911	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28004	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31919	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31920	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31922	0.84[ASN][1000 genomes]
rs31923	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31924	0.81[ASN][1000 genomes]
rs31925	0.81[ASN][1000 genomes]
rs31926	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31928	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31929	0.98[ASN][1000 genomes]
rs31930	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31968	0.84[ASN][1000 genomes]
rs40578	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42358	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42410	0.98[ASN][1000 genomes]
rs42681	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs456180	0.92[ASN][1000 genomes]
rs459467	0.87[ASN][1000 genomes]
rs466880	0.92[ASN][1000 genomes]
rs6554856	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73048831	0.86[EUR][1000 genomes]
rs73048837	0.84[EUR][1000 genomes]
rs73048838	0.80[EUR][1000 genomes]
rs95492	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs31921	FAM105B	cis	Whole Blood	GTEx

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	chr5:14665800-14668000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr5:14665800-14668600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr5:14666000-14668800	Enhancers	Small Intestine	intestine
5	chr5:14666200-14668400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:14666200-14668800	Enhancers	Fetal Heart	heart
7	chr5:14666200-14669000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
9	chr5:14666400-14668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:14666400-14668400	Enhancers	Colon Smooth Muscle	Colon
11	chr5:14666400-14669200	Enhancers	Fetal Intestine Large	intestine
12	chr5:14666400-14669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
14	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
19	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:14666400-14688200	Weak transcription	Ovary	ovary
22	chr5:14666600-14668000	Weak transcription	Colonic Mucosa	Colon
23	chr5:14666600-14668400	Transcr. at gene 5' and 3'	Hela-S3	cervix
24	chr5:14666600-14669600	Weak transcription	NH-A	brain
25	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
29	chr5:14666800-14668000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr5:14666800-14668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:14666800-14668000	Weak transcription	Psoas Muscle	Psoas
32	chr5:14666800-14668200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:14666800-14668200	Weak transcription	Right Atrium	heart
34	chr5:14666800-14668800	Enhancers	Adipose Nuclei	Adipose
35	chr5:14666800-14668800	Genic enhancers	K562	blood
36	chr5:14666800-14669000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:14666800-14669000	Enhancers	Liver	Liver
38	chr5:14666800-14669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:14666800-14670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:14666800-14671200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:14666800-14671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:14666800-14671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:14666800-14671600	Weak transcription	NHDF-Ad	bronchial
44	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:14666800-14672000	Weak transcription	HSMM	muscle
46	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:14666800-14675600	Weak transcription	NHLF	lung
48	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:14667000-14668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:14667000-14668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links