Variant report

Variant	rs369762243
Chromosome Location	chr15:45131416-45131417
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	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
2	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
3	SP1	chr15:45131126-45131454	GM12878	blood:	n/a	n/a
4	CTCF	chr15:45131406-45131421	GM13977	blood:	n/a	n/a
5	CTCF	chr15:45131360-45131510	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr15:45131360-45131510	HRE	kidney:	n/a	n/a
7	IRF4	chr15:45131188-45131537	GM12878	blood:	n/a	n/a
8	GATA2	chr15:45131073-45131455	HUVEC	blood vessel:	n/a	chr15:45131381-45131390 chr15:45131384-45131393
9	EBF1	chr15:45131202-45131491	GM12878	blood:	n/a	n/a
10	CTCF	chr15:45131274-45131456	HUVEC	blood vessel:	n/a	n/a
11	RUNX3	chr15:45131188-45131552	GM12878	blood:	n/a	n/a
12	EBF1	chr15:45131249-45131529	GM12878	blood:	n/a	n/a
13	CTCF	chr15:45131340-45131490	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr15:45131118-45131484	MCF10A-Er-Src	breast:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
15	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
16	IRF4	chr15:45131187-45131487	GM12878	blood:	n/a	n/a
17	PAX5	chr15:45131084-45131525	GM12878	blood:	n/a	chr15:45131356-45131365
18	FOS	chr15:45131190-45131460	MCF10A-Er-Src	breast:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
19	FOS	chr15:45131034-45131541	HUVEC	blood vessel:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
20	POLR2A	chr15:45131004-45131559	HUVEC	blood vessel:	n/a	n/a
21	JUN	chr15:45131054-45131545	HUVEC	blood vessel:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
22	CTCF	chr15:45131340-45131490	NHEK	skin:	n/a	n/a
23	POLR2A	chr15:45131042-45131475	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr15:45131280-45131430	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000238845	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1048668	chr15:45094019-45284278	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1050650	chr15:45096539-45229584	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2753798	chr15:45100852-45145764	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1048867	chr15:45100852-45289756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1036204	chr15:45105374-45284278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1047353	chr15:45105374-45289756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1040940	chr15:45105374-45300844	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv2753133	chr15:45105876-45268182	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv34494	chr15:45105876-45268208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1041613	chr15:45111367-45284278	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1053041	chr15:45117399-45289756	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2761871	chr15:45117411-45137994	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1040140	chr15:45121635-45289756	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv977708	chr15:45124523-45134834	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
20	nsv904181	chr15:45127793-45216343	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3336976	chr15:45129810-45151008	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3499684	chr15:45130660-45140008	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv3499686	chr15:45130660-45140008	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv2581792	chr15:45131160-45146153	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45129400-45133600	Weak transcription	HepG2	liver
3	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
5	chr15:45131000-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:45131000-45131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:45131000-45131600	Enhancers	GM12878-XiMat	blood
8	chr15:45131000-45131800	Enhancers	NHEK	skin
9	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:45131400-45131600	Bivalent Enhancer	HSMMtube	muscle
13	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:45131400-45131800	Enhancers	NH-A	brain
17	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:45131400-45132200	Enhancers	HMEC	breast

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