Variant report

Variant	rs4887117
Chromosome Location	chr15:74508286-74508287
allele	A/G
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	E2F6	chr15:74507779-74508312	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74507650..74508397-chr6:26216677..26217335,2	Hela-S3	cervix:

Variant related genes	Relation type
CCDC33	TF binding region
STRA6	TF binding region
ENSG00000259264	TF binding region
ENSG00000168274	Chromatin interaction
ENSG00000187990	Chromatin interaction

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

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

rs_ID	r²[population]
rs351217	0.87[YRI][hapmap]
rs351221	0.84[AFR][1000 genomes]
rs403697	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs59557889	1.00[AMR][1000 genomes]
rs74023460	1.00[AMR][1000 genomes]
rs74023466	1.00[AMR][1000 genomes]
rs74023468	1.00[AMR][1000 genomes]
rs74023469	1.00[AMR][1000 genomes]
rs74023478	1.00[AMR][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv471253	chr15:74489207-74545148	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv904349	chr15:74500105-74542686	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv904350	chr15:74500105-74548773	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3351294	chr15:74508000-74509977	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74489200-74509600	Weak transcription	Gastric	stomach
2	chr15:74502200-74508800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:74504000-74508800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:74504000-74508800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:74504200-74508600	Enhancers	HepG2	liver
6	chr15:74504200-74508800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:74504200-74508800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:74504400-74508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:74504400-74508800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:74504400-74508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:74504400-74508800	Enhancers	Fetal Thymus	thymus
12	chr15:74504400-74510400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:74505200-74508600	Enhancers	GM12878-XiMat	blood
14	chr15:74505800-74508400	Enhancers	Fetal Lung	lung
15	chr15:74505800-74508600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr15:74505800-74508600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:74505800-74508600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:74505800-74508600	Enhancers	Fetal Muscle Leg	muscle
19	chr15:74506000-74508800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:74506200-74508600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:74506400-74508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr15:74506400-74508800	Enhancers	NH-A	brain
23	chr15:74506600-74520400	Weak transcription	Left Ventricle	heart
24	chr15:74506800-74508600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:74506800-74508800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:74506800-74513800	Weak transcription	Fetal Heart	heart
27	chr15:74507000-74508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:74507000-74508400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr15:74507000-74508400	Flanking Active TSS	Hela-S3	cervix
30	chr15:74507000-74508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:74507000-74508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:74507000-74508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:74507000-74508800	Enhancers	HMEC	breast
34	chr15:74507000-74514000	Weak transcription	Right Atrium	heart
35	chr15:74507600-74508400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:74507600-74508400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr15:74507600-74508400	Weak transcription	Placenta	Placenta
38	chr15:74507600-74508400	Weak transcription	Spleen	Spleen
39	chr15:74507600-74508600	Enhancers	Osteobl	bone
40	chr15:74507600-74511000	Weak transcription	Right Ventricle	heart
41	chr15:74507600-74512200	Weak transcription	Fetal Brain Male	brain
42	chr15:74507800-74508400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr15:74507800-74512400	Weak transcription	Brain Germinal Matrix	brain
44	chr15:74508000-74508400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr15:74508000-74508400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:74508000-74509600	Enhancers	A549	lung
47	chr15:74508000-74512600	Weak transcription	Fetal Kidney	kidney
48	chr15:74508000-74512800	Weak transcription	Fetal Stomach	stomach
49	chr15:74508200-74508400	Enhancers	Fetal Brain Female	brain
50	chr15:74508200-74508800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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