Variant report

Variant	rs62182434
Chromosome Location	chr2:172778113-172778114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:172777801-172778145	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:172777659-172778116	HepG2	liver:	n/a	chr2:172777839-172777848
3	POLR2A	chr2:172777855-172778311	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:172777955-172778156	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172777448..172780686-chr2:172863264..172866650,5	K562	blood:
2	chr2:172772649..172775409-chr2:172776945..172778838,2	K562	blood:
3	chr2:172749595..172751103-chr2:172777206..172778822,2	MCF-7	breast:
4	chr2:172749328..172751742-chr2:172775594..172779310,3	MCF-7	breast:
5	chr2:172776261..172781039-chr2:172946394..172953961,9	K562	blood:
6	chr2:172777519..172781580-chr2:172819100..172823049,4	K562	blood:
7	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
8	chr2:172776047..172778713-chr2:172948688..172950823,3	MCF-7	breast:
9	chr2:172544464..172546143-chr2:172776960..172779046,3	K562	blood:
10	chr2:172777448..172780536-chr2:172864307..172867165,5	K562	blood:
11	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
12	chr2:172763886..172766598-chr2:172776885..172778453,2	MCF-7	breast:
13	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:

No data

No data

No data

Variant related genes	Relation type
HAT1	TF binding region
ENSG00000172878	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000077380	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000115844	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62182441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62183764	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62183774	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62183775	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62183802	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62184167	1.00[AFR][1000 genomes];0.89[EUR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172777000-172778600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172777600-172778200	Enhancers	Hela-S3	cervix
3	chr2:172777600-172778200	Enhancers	K562	blood
4	chr2:172777600-172778400	Enhancers	A549	lung
5	chr2:172777800-172778200	Enhancers	Dnd41	blood
6	chr2:172777800-172778400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:172777800-172778400	Flanking Active TSS	HepG2	liver
8	chr2:172778000-172778200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:172778000-172778400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:172778000-172778400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:172778000-172778400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:172778000-172778400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:172778000-172778400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:172778000-172778400	Enhancers	Fetal Heart	heart
15	chr2:172778000-172778400	Enhancers	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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