Variant report

Variant	rs10423421
Chromosome Location	chr19:35737950-35737951
allele	C/T
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:16)
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	MEF2A	chr19:35737555-35738046	K562	blood:	n/a	chr19:35737804-35737819
2	KAP1	chr19:35737433-35739008	K562	blood:	n/a	n/a
3	CTCF	chr19:35737845-35739459	A549	lung:	n/a	chr19:35738833-35738851 chr19:35739301-35739314 chr19:35739308-35739321
4	POLR2A	chr19:35737830-35741820	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35654052..35658593-chr19:35736953..35742683,9	K562	blood:
2	chr19:35639021..35648956-chr19:35737438..35742195,14	K562	blood:
3	chr19:35604580..35611543-chr19:35737733..35741283,12	MCF-7	breast:
4	chr19:35723373..35727135-chr19:35736732..35741150,5	MCF-7	breast:
5	chr19:35728933..35734246-chr19:35734922..35738680,5	K562	blood:
6	chr19:35531384..35534577-chr19:35737191..35741282,3	MCF-7	breast:
7	chr19:35519110..35522906-chr19:35737918..35741487,5	MCF-7	breast:
8	chr19:35490465..35492383-chr19:35737631..35740321,3	MCF-7	breast:
9	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
10	chr19:35734847..35736639-chr19:35736785..35738777,2	MCF-7	breast:
11	chr19:35603872..35607710-chr19:35737437..35742074,6	MCF-7	breast:
12	chr19:35625357..35628180-chr19:35737479..35741018,4	MCF-7	breast:
13	chr19:35631922..35638346-chr19:35737284..35742337,12	MCF-7	breast:
14	chr19:35719165..35720695-chr19:35737226..35739057,2	MCF-7	breast:
15	chr19:35630586..35637861-chr19:35737374..35742554,18	MCF-7	breast:
16	chr19:35714125..35716071-chr19:35737131..35738946,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
LSR	TF binding region
ENSG00000105707	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000262497	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000177558	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000105711	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10402152	1.00[AMR][1000 genomes]
rs10403374	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408815	0.83[AFR][1000 genomes]
rs10410327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416544	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425979	1.00[AMR][1000 genomes]
rs10426676	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28592719	0.83[AFR][1000 genomes]
rs28625363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28626713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673075	0.83[AFR][1000 genomes]
rs60886964	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35733000-35738200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:35737400-35739000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
3	chr19:35737600-35738000	Enhancers	Fetal Heart	heart
4	chr19:35737600-35738200	Enhancers	K562	blood
5	chr19:35737600-35738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:35737600-35738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:35737600-35738400	Enhancers	Adipose Nuclei	Adipose
8	chr19:35737600-35738400	Enhancers	Hela-S3	cervix
9	chr19:35737600-35740600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr19:35737800-35738000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr19:35737800-35738000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr19:35737800-35738000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr19:35737800-35738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr19:35737800-35738400	Enhancers	Stomach Mucosa	stomach
15	chr19:35737800-35738400	Enhancers	HMEC	breast
16	chr19:35737800-35738600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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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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