Variant report

Variant	rs12101364
Chromosome Location	chr15:79269226-79269227
allele	G/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	STAT5A	chr15:79268845-79270495	GM12878	blood:	n/a	n/a
2	BCLAF1	chr15:79269028-79270502	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:79268732-79273709	GM12891	blood:	n/a	n/a
4	SPI1	chr15:79268989-79269702	GM12891	blood:	n/a	chr15:79269199-79269206 chr15:79269523-79269536 chr15:79269523-79269536 chr15:79269198-79269207 chr15:79269525-79269532 chr15:79269517-79269530
5	EGR1	chr15:79269065-79269267	GM12878	blood:	n/a	chr15:79269187-79269201
6	RELA	chr15:79268951-79270392	GM19193	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
7	MTA3	chr15:79268702-79270639	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:79268950-79269815	GM12892	blood:	n/a	n/a
9	BHLHE40	chr15:79269193-79269249	K562	blood:	n/a	n/a
10	TCF3	chr15:79269060-79269508	GM12878	blood:	n/a	chr15:79269452-79269465 chr15:79269434-79269448 chr15:79269438-79269451
11	SPI1	chr15:79269012-79269303	GM12878	blood:	n/a	chr15:79269199-79269206 chr15:79269198-79269207
12	ELF1	chr15:79268905-79269839	GM12878	blood:	n/a	chr15:79269198-79269209
13	RELA	chr15:79268995-79270535	GM12891	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
14	POLR2A	chr15:79268986-79269491	GM12878	blood:	n/a	n/a
15	RUNX3	chr15:79268981-79270521	GM12878	blood:	n/a	n/a
16	RELA	chr15:79269012-79270509	GM19099	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
17	EBF1	chr15:79269046-79269944	GM12878	blood:	n/a	chr15:79269674-79269685 chr15:79269702-79269713 chr15:79269702-79269715 chr15:79269704-79269713
18	PAX5	chr15:79268797-79270450	GM12878	blood:	n/a	chr15:79269545-79269554
19	EGR1	chr15:79269041-79269256	GM12878	blood:	n/a	chr15:79269187-79269201
20	EP300	chr15:79269181-79270398	GM12878	blood:	n/a	n/a
21	CHD2	chr15:79268859-79270449	GM12878	blood:	n/a	n/a
22	MAZ	chr15:79269074-79270318	GM12878	blood:	n/a	n/a
23	MTA3	chr15:79269225-79270481	GM12878	blood:	n/a	n/a
24	RCOR1	chr15:79268986-79270337	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:79268888-79273418	GM12878	blood:	n/a	n/a
26	CUX1	chr15:79269190-79270301	GM12878	blood:	n/a	n/a
27	IKZF1	chr15:79269075-79270503	GM12878	blood:	n/a	n/a
28	SPI1	chr15:79269015-79269868	GM12878	blood:	n/a	chr15:79269199-79269206 chr15:79269523-79269536 chr15:79269523-79269536 chr15:79269198-79269207 chr15:79269525-79269532 chr15:79269517-79269530
29	TBL1XR1	chr15:79268944-79270500	GM12878	blood:	n/a	n/a
30	ZNF143	chr15:79269045-79269234	GM12878	blood:	n/a	n/a
31	CTCF	chr15:79269100-79269250	GM12873	blood:	n/a	chr15:79269196-79269214
32	POLR2A	chr15:79268880-79270498	GM19193	blood:	n/a	n/a
33	POLR2A	chr15:79268749-79270549	GM12892	blood:	n/a	n/a
34	POLR2A	chr15:79269093-79270355	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:79268822-79270585	GM12892	blood:	n/a	n/a
36	POLR2A	chr15:79268960-79270470	GM12892	blood:	n/a	n/a
37	BHLHE40	chr15:79269011-79270341	GM12878	blood:	n/a	n/a
38	MAX	chr15:79269219-79270461	GM12878	blood:	n/a	n/a
39	PML	chr15:79268954-79270494	GM12878	blood:	n/a	n/a
40	RUNX3	chr15:79268944-79270524	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:79269022-79269378	GM12878	blood:	n/a	n/a
42	RELA	chr15:79268952-79270509	GM18505	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
43	NFIC	chr15:79269001-79270511	GM12878	blood:	n/a	n/a
44	RELA	chr15:79268948-79270472	GM18951	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
45	CHD1	chr15:79269068-79270391	GM12878	blood:	n/a	n/a
46	RELA	chr15:79269094-79270413	GM12878	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
47	RELA	chr15:79268795-79270520	GM10847	blood:	n/a	chr15:79269796-79269805 chr15:79269796-79269805
48	SMC3	chr15:79269085-79270445	GM12878	blood:	n/a	chr15:79270415-79270425
49	YY1	chr15:79268792-79269931	GM12878	blood:	n/a	n/a
50	STAT1	chr15:79268951-79269842	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79266861..79270074-chr15:79272087..79274367,3	K562	blood:
2	chr1:145380838..145382385-chr15:79267640..79269976,2	MCF-7	breast:
3	chr15:79267805..79270419-chr15:79279866..79282392,3	MCF-7	breast:
4	chr15:79268574..79270778-chr15:79272295..79274532,2	K562	blood:

Variant related genes	Relation type
ENSG00000177699	TF binding region
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16970387	0.81[EUR][1000 genomes]
rs28368520	1.00[EUR][1000 genomes]
rs28391216	1.00[EUR][1000 genomes]
rs28407629	1.00[EUR][1000 genomes]
rs28427472	0.91[EUR][1000 genomes]
rs28461937	1.00[EUR][1000 genomes]
rs28464364	1.00[EUR][1000 genomes]
rs28501391	1.00[EUR][1000 genomes]
rs28501618	1.00[EUR][1000 genomes]
rs28513164	1.00[EUR][1000 genomes]
rs28516885	1.00[EUR][1000 genomes]
rs28546944	1.00[EUR][1000 genomes]
rs28547879	1.00[EUR][1000 genomes]
rs28549817	1.00[EUR][1000 genomes]
rs28557276	0.83[EUR][1000 genomes]
rs28565526	1.00[EUR][1000 genomes]
rs28567804	1.00[EUR][1000 genomes]
rs28587174	1.00[EUR][1000 genomes]
rs28603308	0.91[EUR][1000 genomes]
rs28624404	1.00[EUR][1000 genomes]
rs28651192	1.00[EUR][1000 genomes]
rs28674868	1.00[EUR][1000 genomes]
rs28683537	1.00[EUR][1000 genomes]
rs28705105	1.00[EUR][1000 genomes]
rs28709904	1.00[EUR][1000 genomes]
rs28716558	1.00[EUR][1000 genomes]
rs28718997	1.00[EUR][1000 genomes]
rs28722773	1.00[EUR][1000 genomes]
rs28738778	1.00[EUR][1000 genomes]
rs9920807	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:79261200-79280400	Weak transcription	Esophagus	oesophagus
3	chr15:79263600-79271200	Weak transcription	Lung	lung
4	chr15:79263800-79271200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:79264000-79271400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:79264200-79269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:79264200-79269800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:79264200-79269800	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:79264200-79271400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:79264200-79271800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:79265800-79271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:79268200-79272400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:79268400-79272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:79268800-79269400	Enhancers	Brain Substantia Nigra	brain
15	chr15:79268800-79269400	Enhancers	Fetal Muscle Leg	muscle
16	chr15:79268800-79270600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:79268800-79273200	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:79269000-79269800	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:79269000-79269800	Enhancers	Fetal Muscle Trunk	muscle
20	chr15:79269000-79270000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:79269000-79270400	Enhancers	K562	blood
22	chr15:79269000-79270600	Flanking Active TSS	GM12878-XiMat	blood
23	chr15:79269000-79271200	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:79269000-79272400	Enhancers	Primary B cells from cord blood	blood
25	chr15:79269000-79272400	Enhancers	Spleen	Spleen
26	chr15:79269200-79269400	Enhancers	Adipose Nuclei	Adipose
27	chr15:79269200-79269400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr15:79269200-79269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:79269200-79269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:79269200-79269800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:79269200-79272400	Enhancers	HepG2	liver

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