Variant report

Variant	rs4887066
Chromosome Location	chr15:74462629-74462630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74460105-74471859	A549	lung:	n/a	n/a
2	RUNX3	chr15:74462551-74462770	GM12878	blood:	n/a	n/a
3	ELF1	chr15:74462282-74462791	GM12878	blood:	n/a	chr15:74462717-74462728

No.	Distal block	Cell Line	Cell type
1	chr15:74449618..74451381-chr15:74459821..74462700,2	K562	blood:
2	chr15:74461776..74463593-chr15:74465384..74467376,2	MCF-7	breast:
3	chr15:74461480..74463993-chr15:74464056..74467832,4	MCF-7	breast:

Variant related genes	Relation type
ISLR	TF binding region
ENSG00000129009	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1052622	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10910	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1385650	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs351243	0.92[ASN][1000 genomes]
rs4886574	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6495089	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs736118	0.92[GIH][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	22 gene(s)	inside rSNPs	diseases
6	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74449400-74465600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:74460000-74465600	Enhancers	Fetal Muscle Leg	muscle
3	chr15:74460200-74463800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:74460200-74465600	Enhancers	Ovary	ovary
5	chr15:74460200-74466000	Enhancers	Fetal Muscle Trunk	muscle
6	chr15:74460200-74466000	Enhancers	Fetal Stomach	stomach
7	chr15:74460200-74466400	Enhancers	Spleen	Spleen
8	chr15:74460400-74463400	Enhancers	Stomach Smooth Muscle	stomach
9	chr15:74460600-74463000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:74460600-74464600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:74461000-74462800	Weak transcription	GM12878-XiMat	blood
12	chr15:74461000-74463400	Weak transcription	Lung	lung
13	chr15:74461000-74465600	Enhancers	Fetal Lung	lung
14	chr15:74461000-74465600	Enhancers	Placenta	Placenta
15	chr15:74461400-74464800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:74461400-74465000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:74461400-74465200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:74461600-74464800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:74461600-74465200	Weak transcription	HSMMtube	muscle
20	chr15:74461600-74466200	Weak transcription	Pancreas	Pancrea
21	chr15:74461800-74463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:74462000-74463200	Weak transcription	Right Atrium	heart
23	chr15:74462000-74464400	Weak transcription	Adipose Nuclei	Adipose
24	chr15:74462000-74464400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:74462000-74464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:74462200-74463400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:74462200-74464800	Weak transcription	Left Ventricle	heart
28	chr15:74462400-74462800	Enhancers	Fetal Brain Male	brain
29	chr15:74462400-74463800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:74462600-74463200	Enhancers	Fetal Kidney	kidney
31	chr15:74462600-74463800	Enhancers	Right Ventricle	heart
32	chr15:74462600-74464400	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:74462600-74464600	Weak transcription	Fetal Heart	heart

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