Variant report

Variant	rs2165928
Chromosome Location	chr5:112657117-112657118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:112656980-112657336	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:112657080-112657230	HCFaa	heart:	n/a	n/a
3	RAD21	chr5:112656982-112657303	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr5:112657095-112657187	SK-N-SH_RA	brain:	n/a	n/a
5	RAD21	chr5:112656981-112657291	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr5:112656938-112657328	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:112657040-112657190	HMF	breast:	n/a	n/a
8	CTCF	chr5:112657100-112657330	GM12872	blood:	n/a	n/a
9	RAD21	chr5:112656932-112657434	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr5:112656959-112657255	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr5:112657080-112657230	HMF	breast:	n/a	n/a
12	CTCF	chr5:112657020-112657170	HVMF	connective:	n/a	n/a
13	CTCF	chr5:112657060-112657210	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr5:112657080-112657230	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr5:112657080-112657230	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr5:112657060-112657210	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr5:112657040-112657190	AG10803	skin:	n/a	n/a
18	CTCF	chr5:112657100-112657250	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr5:112657040-112657190	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr5:112657107-112657235	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr5:112657100-112657250	BE2_C	brain:	n/a	n/a
22	CTCF	chr5:112657110-112657222	GM19238	blood:	n/a	n/a
23	CTCF	chr5:112657060-112657210	WERI-Rb-1	eye:	n/a	n/a
24	RAD21	chr5:112656941-112657413	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232633	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10036581	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057210	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10067046	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10072511	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10076501	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1038918	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10900684	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11241200	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11748642	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11948072	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13153071	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1517206	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1845290	0.81[AMR][1000 genomes]
rs1850408	0.86[ASN][1000 genomes]
rs2416310	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4705812	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4705813	0.82[AMR][1000 genomes]
rs485210	0.80[AMR][1000 genomes]
rs6594700	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869097	0.82[AMR][1000 genomes]
rs6873400	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6873755	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875238	0.82[AMR][1000 genomes]
rs6879612	0.82[AMR][1000 genomes]
rs6894434	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7735247	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112655000-112657600	Enhancers	Liver	Liver
4	chr5:112655400-112657400	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:112655800-112658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112655800-112658800	Weak transcription	Placenta	Placenta
7	chr5:112656000-112657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:112656000-112666200	Weak transcription	HMEC	breast
9	chr5:112656200-112661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112656400-112657200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:112656600-112657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:112656600-112666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:112657000-112657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:112657000-112657400	Enhancers	Ovary	ovary

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