Variant report

Variant	rs2414178
Chromosome Location	chr15:53001538-53001539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52967401..52973659-chr15:53000765..53004676,11	MCF-7	breast:
2	chr15:52968259..52973250-chr15:52997483..53005703,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10152531	0.87[ASN][1000 genomes]
rs35700617	0.80[ASN][1000 genomes]
rs8031716	0.86[CHB][hapmap]
rs9806580	0.87[ASN][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1049055	chr15:52990467-53030603	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1035212	chr15:52995637-53030603	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1049144	chr15:52995637-53039179	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1049619	chr15:52995637-53041887	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv515534	chr15:52998262-53025692	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv569425	chr15:53001538-53038488	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52995800-53001600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:52998800-53001600	Weak transcription	NHEK	skin
3	chr15:52998800-53002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:53000800-53001800	Weak transcription	Adipose Nuclei	Adipose
5	chr15:53000800-53002000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr15:53001000-53001600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:53001000-53001600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr15:53001000-53001800	Enhancers	GM12878-XiMat	blood
9	chr15:53001000-53002200	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr15:53001200-53001600	Active TSS	Liver	Liver
11	chr15:53001200-53001800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr15:53001200-53002000	Active TSS	Fetal Intestine Large	intestine
13	chr15:53001200-53002000	Active TSS	Fetal Intestine Small	intestine
14	chr15:53001200-53002400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:53001200-53002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:53001200-53002800	Flanking Active TSS	HepG2	liver
17	chr15:53001400-53001600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr15:53001400-53001600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:53001400-53001600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:53001400-53001800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr15:53001400-53002000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr15:53001400-53002200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:53001400-53002200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:53001400-53002200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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