Variant report

Variant	rs34469953
Chromosome Location	chr5:76136541-76136542
allele	A/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	POLR2A	chr5:76136501-76136843	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr5:76136456-76136798	HCT-116	colon:	n/a	n/a
3	POLR2A	chr5:76131046-76138228	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76135978..76138972-chr5:76140477..76142942,2	MCF-7	breast:
2	chr5:76136037..76139434-chr5:76141594..76145921,5	K562	blood:

Variant related genes	Relation type
RN7SL208P	TF binding region
ENSG00000171643	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10053003	0.94[ASN][1000 genomes]
rs1030484	0.86[ASN][1000 genomes]
rs12186639	0.87[ASN][1000 genomes]
rs13157422	0.87[ASN][1000 genomes]
rs13166089	0.88[ASN][1000 genomes]
rs13177258	0.87[ASN][1000 genomes]
rs13179180	0.90[ASN][1000 genomes]
rs1963861	0.84[ASN][1000 genomes]
rs2243010	0.94[ASN][1000 genomes]
rs3135471	0.90[ASN][1000 genomes]
rs429332	0.82[ASN][1000 genomes]
rs458380	0.81[ASN][1000 genomes]
rs4704366	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55925929	0.80[ASN][1000 genomes]
rs56238109	0.81[ASN][1000 genomes]
rs62365101	0.85[ASN][1000 genomes]
rs62365102	0.81[ASN][1000 genomes]
rs62365104	0.87[ASN][1000 genomes]
rs62365105	0.87[ASN][1000 genomes]
rs6453253	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv994503	chr5:76129230-76144182	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76130200-76137200	Weak transcription	Esophagus	oesophagus
2	chr5:76130400-76140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:76132200-76145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:76132800-76136800	Enhancers	Fetal Intestine Large	intestine
5	chr5:76133600-76136800	Enhancers	Fetal Intestine Small	intestine
6	chr5:76134200-76136800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:76135000-76137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:76135000-76138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:76135000-76139800	Weak transcription	Small Intestine	intestine
10	chr5:76135200-76140200	Weak transcription	HUVEC	blood vessel
11	chr5:76135200-76140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:76135400-76145600	Weak transcription	Gastric	stomach
13	chr5:76136000-76137200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:76136000-76137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:76136000-76137400	Weak transcription	A549	lung
16	chr5:76136000-76140400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:76136000-76146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:76136200-76140000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:76136200-76140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:76136400-76137600	Enhancers	Pancreas	Pancrea
21	chr5:76136400-76140000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links