Variant report

Variant	rs1451248
Chromosome Location	chr2:100108239-100108240
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:5)
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	chr2:100108140-100108290	GM12873	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
2	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
3	chr2:100108007..100111568-chr2:100119889..100123182,3	K562	blood:
4	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
5	chr2:100105579..100107417-chr2:100107751..100110835,3	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
REV1	TF binding region
ENSG00000185414	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000241962	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers 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	12 gene(s)	inside rSNPs	diseases
4	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1809009	chr2:100103752-100109251	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv582524	chr2:100103752-100110353	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3354592	chr2:100104020-100108718	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:100107400-100110400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:100107400-100111600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:100107600-100109000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:100107600-100109600	Weak transcription	Fetal Stomach	stomach
5	chr2:100107600-100110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:100107600-100111600	Weak transcription	Fetal Kidney	kidney
7	chr2:100107600-100111600	Weak transcription	Fetal Lung	lung
8	chr2:100107600-100111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:100107600-100111800	Weak transcription	A549	lung
10	chr2:100107600-100112400	Weak transcription	Fetal Intestine Large	intestine
11	chr2:100107600-100112400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:100107600-100113000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:100107600-100119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:100107800-100108400	Enhancers	HepG2	liver
15	chr2:100107800-100111600	Weak transcription	K562	blood

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Input of quick search could be:

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

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