Variant report

Variant	rs550076113
Chromosome Location	chr15:72490713-72490714
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	chr15:72489503-72494887	PFSK-1	brain:	n/a	n/a
2	BCL3	chr15:72490013-72491688	A549	lung:	n/a	chr15:72491061-72491070
3	POLR2A	chr15:72490175-72491216	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr15:72490196-72491882	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:72490200-72491435	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:72489689-72496123	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:72489741-72491479	GM18951	blood:	n/a	n/a
8	EP300	chr15:72490426-72491255	A549	lung:	n/a	n/a
9	ATF2	chr15:72490172-72491147	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72489825-72491068	HUVEC	blood vessel:	n/a	n/a
11	BCLAF1	chr15:72490198-72491275	GM12878	blood:	n/a	chr15:72491061-72491070
12	GATA3	chr15:72489535-72490741	A549	lung:	n/a	n/a
13	POLR2A	chr15:72490679-72491133	A549	lung:	n/a	n/a
14	JUND	chr15:72490008-72491276	HCT-116	colon:	n/a	n/a
15	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
16	BCL3	chr15:72489954-72491190	GM12878	blood:	n/a	chr15:72491061-72491070
17	POLR2A	chr15:72490186-72491965	GM12892	blood:	n/a	n/a
18	NFATC1	chr15:72490115-72491343	GM12878	blood:	n/a	n/a
19	POU2F2	chr15:72490201-72490963	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:72489927-72490809	MCF10A-Er-Src	breast:	n/a	n/a
21	PML	chr15:72490159-72491750	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:72490100-72491602	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:72490686-72490892	K562	blood:	n/a	n/a
24	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
25	ELF1	chr15:72490164-72491149	GM12878	blood:	n/a	chr15:72490225-72490237
26	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
27	MTA3	chr15:72490165-72491179	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr15:72490210-72490856	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr15:72490260-72491615	HepG2	liver:	n/a	n/a
30	JUND	chr15:72490119-72490988	A549	lung:	n/a	n/a
31	POLR2A	chr15:72490151-72491924	GM12891	blood:	n/a	n/a
32	POLR2A	chr15:72490282-72491762	K562	blood:	n/a	n/a
33	POLR2A	chr15:72490685-72491644	K562	blood:	n/a	n/a
34	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
35	RUNX3	chr15:72490179-72491030	GM12878	blood:	n/a	n/a
36	PML	chr15:72490498-72490985	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:72490262-72491342	K562	blood:	n/a	n/a
38	ATF2	chr15:72490197-72490721	H1-hESC	embryonic stem cell:	n/a	n/a
39	ELF1	chr15:72490122-72491028	A549	lung:	n/a	chr15:72490225-72490237
40	POLR2A	chr15:72490191-72491177	SK-N-SH	brain:	n/a	n/a
41	CHD2	chr15:72490249-72490767	K562	blood:	n/a	n/a
42	SMC3	chr15:72489764-72491276	Hela-S3	cervix:	n/a	chr15:72490300-72490310 chr15:72491235-72491243
43	BCL3	chr15:72490707-72491122	GM12878	blood:	n/a	chr15:72491061-72491070
44	TCF12	chr15:72488885-72491260	A549	lung:	n/a	chr15:72489274-72489282 chr15:72490265-72490275
45	POLR2A	chr15:72488938-72491383	MCF-7	breast:	n/a	n/a
46	POLR2A	chr15:72488935-72491303	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr15:72488837-72501457	U87	brain:	n/a	n/a
48	STAT5A	chr15:72490175-72491046	GM12878	blood:	n/a	chr15:72490383-72490395 chr15:72490523-72490534 chr15:72490784-72490796
49	POLR2A	chr15:72490172-72491644	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:72490662-72490952	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72490633..72493001-chr15:72850995..72852624,2	K562	blood:
2	chr15:72484916..72487444-chr15:72490191..72493716,4	MCF-7	breast:
3	chr15:72489508..72492052-chr15:72496693..72498858,2	MCF-7	breast:
4	chr11:8985991..8986779-chr15:72490524..72491472,2	Hela-S3	cervix:
5	chr15:72490651..72493389-chr15:72515368..72517029,2	K562	blood:
6	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
7	chr15:72488604..72491164-chr15:72493836..72495912,3	MCF-7	breast:
8	chr15:72487407..72489902-chr15:72490450..72492521,2	K562	blood:

Variant related genes	Relation type
GRAMD2	TF binding region
ENSG00000254860	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	esv3409471	chr15:72488923-72491471	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72488000-72491000	Weak transcription	K562	blood
3	chr15:72489000-72490800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:72489000-72491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:72489200-72491600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr15:72489400-72490800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:72489600-72491000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr15:72489800-72490800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:72489800-72490800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:72489800-72490800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:72489800-72490800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:72489800-72490800	Weak transcription	NHDF-Ad	bronchial
13	chr15:72489800-72491000	Weak transcription	Brain Angular Gyrus	brain
14	chr15:72489800-72491000	Enhancers	Placenta	Placenta
15	chr15:72489800-72491600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:72489800-72491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:72489800-72491800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:72490000-72490800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr15:72490000-72490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:72490000-72490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:72490000-72490800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:72490000-72490800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr15:72490000-72491000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:72490000-72491000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:72490000-72491200	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:72490000-72491200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr15:72490000-72491400	Weak transcription	Brain Substantia Nigra	brain
28	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:72490200-72490800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:72490200-72490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:72490200-72490800	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:72490200-72490800	Weak transcription	Left Ventricle	heart
34	chr15:72490200-72490800	Weak transcription	Lung	lung
35	chr15:72490200-72490800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:72490200-72490800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:72490200-72490800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:72490200-72490800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr15:72490200-72491000	Weak transcription	Aorta	Aorta
40	chr15:72490200-72491000	Weak transcription	Pancreas	Pancrea
41	chr15:72490200-72491000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:72490200-72491400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:72490200-72491400	Genic enhancers	NH-A	brain
44	chr15:72490400-72490800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:72490400-72490800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:72490400-72490800	Weak transcription	Brain Anterior Caudate	brain
47	chr15:72490400-72490800	Weak transcription	Colonic Mucosa	Colon
48	chr15:72490400-72490800	Weak transcription	Esophagus	oesophagus
49	chr15:72490400-72490800	Enhancers	Fetal Kidney	kidney
50	chr15:72490400-72490800	Flanking Active TSS	Hela-S3	cervix

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