Variant report

Variant	rs562838274
Chromosome Location	chr5:118325599-118325600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr5:118325456-118325829	K562	blood:	n/a	n/a
2	TAL1	chr5:118325533-118325810	K562	blood:	n/a	n/a
3	EBF1	chr5:118325454-118325806	GM12878	blood:	n/a	chr5:118325618-118325629 chr5:118325618-118325628
4	MYC	chr5:118325465-118325828	K562	blood:	n/a	chr5:118325539-118325548
5	MAFF	chr5:118325581-118325785	K562	blood:	n/a	n/a
6	EP300	chr5:118325288-118325764	K562	blood:	n/a	n/a
7	RCOR1	chr5:118325433-118325835	K562	blood:	n/a	n/a
8	ARID3A	chr5:118325518-118325953	K562	blood:	n/a	n/a
9	RCOR1	chr5:118325326-118325649	K562	blood:	n/a	n/a
10	TEAD4	chr5:118325375-118325932	K562	blood:	n/a	n/a
11	TBL1XR1	chr5:118325581-118325778	K562	blood:	n/a	n/a
12	ZNF384	chr5:118325401-118326085	K562	blood:	n/a	n/a
13	ZC3H11A	chr5:118325580-118325769	K562	blood:	n/a	n/a
14	BHLHE40	chr5:118325428-118325663	K562	blood:	n/a	n/a
15	TEAD4	chr5:118325443-118325915	K562	blood:	n/a	n/a
16	CUX1	chr5:118324709-118325761	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118323277..118326022-chr5:118603985..118605806,3	MCF-7	breast:
2	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:
3	chr5:118323861..118326778-chr5:118787539..118789741,2	MCF-7	breast:
4	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
DTWD2	TF binding region
ENSG00000145779	Chromatin interaction
ENSG00000133835	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118324800-118325800	Enhancers	Primary B cells from cord blood	blood
2	chr5:118324800-118325800	Weak transcription	Placenta	Placenta
3	chr5:118324800-118325800	Weak transcription	Small Intestine	intestine
4	chr5:118324800-118326000	Enhancers	Fetal Heart	heart
5	chr5:118324800-118326200	Flanking Active TSS	K562	blood
6	chr5:118324800-118326800	Enhancers	Stomach Mucosa	stomach
7	chr5:118324800-118327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:118325000-118325600	Enhancers	Dnd41	blood
9	chr5:118325000-118325800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:118325000-118326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:118325000-118326000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:118325000-118326000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:118325000-118326200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:118325000-118326200	Weak transcription	NHEK	skin
15	chr5:118325000-118326400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:118325400-118325800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118325400-118326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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