Variant report

Variant	rs12443497
Chromosome Location	chr15:52373388-52373389
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr15:52372993-52373428	A549	lung:	n/a	n/a
2	NR3C1	chr15:52373036-52373402	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:52262830..52265268-chr15:52372078..52374982,4	MCF-7	breast:
2	chr15:52309334..52315760-chr15:52366746..52373412,20	MCF-7	breast:
3	chr15:52308069..52314807-chr15:52359242..52376066,34	MCF-7	breast:
4	chr15:52267047..52268763-chr15:52371441..52374035,2	K562	blood:
5	chr15:52371710..52374413-chr15:52385596..52389516,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259178	TF binding region
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000242327	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12439307	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12902522	1.00[CEU][hapmap]
rs16953085	1.00[TSI][hapmap]
rs16964728	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16964735	1.00[TSI][hapmap]
rs16964770	1.00[TSI][hapmap]
rs7172939	1.00[TSI][hapmap]
rs732097	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7497554	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1039841	chr15:52357448-52381377	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52362800-52374600	Weak transcription	Small Intestine	intestine
2	chr15:52364600-52374000	Weak transcription	Pancreas	Pancrea
3	chr15:52369800-52373400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:52369800-52373400	Enhancers	HMEC	breast
5	chr15:52369800-52374400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:52369800-52374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:52369800-52374400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:52369800-52374400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:52370000-52374400	Weak transcription	HSMMtube	muscle
10	chr15:52370800-52374600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:52370800-52376400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:52371200-52374400	Weak transcription	Brain Anterior Caudate	brain
13	chr15:52371200-52374400	Weak transcription	Colonic Mucosa	Colon
14	chr15:52371200-52374400	Weak transcription	Esophagus	oesophagus
15	chr15:52371200-52374400	Weak transcription	Dnd41	blood
16	chr15:52371200-52374800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:52371200-52376600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:52371400-52374000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:52371400-52374400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:52371400-52377400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:52371600-52378800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:52371800-52374000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:52371800-52374600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:52372800-52373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:52372800-52373800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:52372800-52377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:52373000-52377400	Weak transcription	NHEK	skin
28	chr15:52373200-52373400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:52373200-52373400	Enhancers	GM12878-XiMat	blood
30	chr15:52373200-52374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:52373200-52378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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