Variant report

Variant	rs55714261
Chromosome Location	chr2:179277559-179277560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:179277548-179277630	GM13977	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178974133..178981122-chr2:179276785..179281060,9	K562	blood:
2	chr2:179276440..179278357-chr2:179314496..179316084,2	MCF-7	breast:
3	chr2:179156403..179158773-chr2:179276903..179278454,2	K562	blood:
4	chr2:179277034..179278552-chr2:179314324..179316959,2	K562	blood:
5	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
6	chr2:179277180..179281325-chr2:179314213..179317479,5	K562	blood:
7	chr2:179277322..179281063-chr2:179341771..179345640,5	K562	blood:
8	chr2:179274878..179278568-chr2:179284211..179288261,3	K562	blood:
9	chr2:178974707..178979925-chr2:179277151..179280371,6	K562	blood:
10	chr2:179264734..179266660-chr2:179277060..179279815,2	MCF-7	breast:
11	chr2:179269516..179271949-chr2:179276135..179277848,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223960	TF binding region
ENSG00000155636	Chromatin interaction
ENSG00000260931	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10497515	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497516	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11893643	0.94[AFR][1000 genomes]
rs12612917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615980	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12616943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619401	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16866323	0.89[EUR][1000 genomes]
rs2276619	0.89[EUR][1000 genomes]
rs2276620	0.89[EUR][1000 genomes]
rs3731756	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3731758	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3765020	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3816073	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4491754	0.89[EUR][1000 genomes]
rs55821514	0.95[ASN][1000 genomes]
rs56065555	0.94[EUR][1000 genomes]
rs56233214	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734446	0.89[EUR][1000 genomes]
rs6736173	0.89[EUR][1000 genomes]
rs6736304	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73034339	0.83[EUR][1000 genomes]
rs73034346	0.89[EUR][1000 genomes]
rs73034359	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73034362	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73034364	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73034366	0.81[AFR][1000 genomes]
rs73034371	0.94[AFR][1000 genomes]
rs73034375	0.98[AFR][1000 genomes]
rs73034377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034393	0.86[AFR][1000 genomes]
rs7584420	0.94[EUR][1000 genomes];0.96[ASN][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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179269400-179277600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:179270000-179277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:179270000-179277800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:179270600-179277800	Weak transcription	HSMM	muscle
5	chr2:179271000-179277600	Weak transcription	GM12878-XiMat	blood
6	chr2:179271000-179277800	Weak transcription	HSMMtube	muscle
7	chr2:179272200-179277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:179272200-179278000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:179277000-179277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:179277000-179277600	Enhancers	Fetal Intestine Large	intestine
11	chr2:179277000-179277800	Enhancers	A549	lung
12	chr2:179277000-179278000	Enhancers	K562	blood
13	chr2:179277200-179277800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:179277200-179278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:179277200-179278000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:179277200-179278000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:179277400-179277600	Enhancers	Dnd41	blood
18	chr2:179277400-179277600	Enhancers	Hela-S3	cervix
19	chr2:179277400-179277600	Weak transcription	HUVEC	blood vessel
20	chr2:179277400-179277800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:179277400-179277800	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:179277400-179278200	Weak transcription	Fetal Heart	heart

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