Variant report

Variant	rs7710252
Chromosome Location	chr5:94979653-94979654
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	CTCF	chr5:94979619-94980761	SK-N-SH	brain:	n/a	chr5:94980191-94980207 chr5:94980194-94980201 chr5:94980190-94980208 chr5:94980192-94980213
2	CTCF	chr5:94979640-94979790	AG09319	gingival:	n/a	n/a
3	CTCF	chr5:94979620-94979770	HRPEpiC	eye:	n/a	n/a
4	TBP	chr5:94979458-94979682	K562	blood:	n/a	n/a
5	CTCF	chr5:94979560-94979710	HEEpiC	esophagus:	n/a	n/a
6	RAD21	chr5:94979414-94980727	SK-N-SH	brain:	n/a	chr5:94980407-94980419 chr5:94980192-94980201 chr5:94980191-94980210
7	CTCF	chr5:94979629-94981181	A549	lung:	n/a	chr5:94980191-94980207 chr5:94980194-94980201 chr5:94980190-94980208 chr5:94980192-94980213

No.	Distal block	Cell Line	Cell type
1	chr5:94979518..94982436-chr5:95080869..95082973,2	K562	blood:
2	chr5:94978656..94980473-chr5:94982284..94983873,2	MCF-7	breast:
3	chr5:94978554..94980153-chr5:95176537..95179055,2	MCF-7	breast:
4	chr5:94978692..94981484-chr5:95178419..95181281,2	MCF-7	breast:
5	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
6	chr5:94977888..94979962-chr5:95065955..95067662,2	K562	blood:
7	chr5:94979527..94980403-chr5:95178510..95179271,2	MCF-7	breast:
8	chr5:94979432..94984462-chr5:95062276..95069972,15	MCF-7	breast:

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000175449	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11953243	1.00[AMR][1000 genomes]
rs60323781	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7711473	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94968200-94979800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:94974800-94979800	Weak transcription	GM12878-XiMat	blood
3	chr5:94976000-94982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:94976800-94982200	Enhancers	Liver	Liver
5	chr5:94977600-94979800	Weak transcription	NHLF	lung
6	chr5:94977600-94980400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:94977600-94982200	Weak transcription	Right Atrium	heart
8	chr5:94977600-94982200	Weak transcription	HSMM	muscle
9	chr5:94977800-94979800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:94977800-94979800	Enhancers	HepG2	liver
11	chr5:94977800-94979800	Weak transcription	NHEK	skin
12	chr5:94977800-94982000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:94977800-94982000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:94977800-94982600	Weak transcription	Left Ventricle	heart
15	chr5:94978000-94979800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:94978000-94982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:94978000-94982600	Weak transcription	Aorta	Aorta
18	chr5:94978200-94979800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:94978200-94979800	Weak transcription	K562	blood
20	chr5:94978200-94980000	Weak transcription	Stomach Mucosa	stomach
21	chr5:94978400-94979800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:94978400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:94978600-94981800	Weak transcription	Fetal Intestine Large	intestine
24	chr5:94979200-94982200	Weak transcription	Pancreas	Pancrea
25	chr5:94979600-94980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:94979600-94980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:94979600-94980600	Enhancers	Dnd41	blood

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