Variant report

Variant	rs1979177
Chromosome Location	chr15:58810271-58810272
allele	C/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	POLR2A	chr15:58810257-58810276	MCF10A-Er-Src	breast:	n/a	n/a
2	EBF1	chr15:58810253-58810667	GM12878	blood:	n/a	n/a
3	BCLAF1	chr15:58810259-58810916	GM12878	blood:	n/a	n/a
4	MYC	chr15:58810163-58810765	K562	blood:	n/a	chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
5	POLR2A	chr15:58810111-58810277	GM12878	blood:	n/a	n/a
6	TEAD4	chr15:58810111-58810808	K562	blood:	n/a	n/a
7	BHLHE40	chr15:58810247-58810683	K562	blood:	n/a	n/a
8	SPI1	chr15:58810074-58810836	GM12891	blood:	n/a	chr15:58810588-58810601 chr15:58810590-58810599 chr15:58810587-58810600
9	RUNX3	chr15:58809981-58811171	GM12878	blood:	n/a	n/a
10	MTA3	chr15:58809373-58811121	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:58809869-58810916	GM12878	blood:	n/a	n/a
12	CHD2	chr15:58810269-58810829	GM12878	blood:	n/a	n/a
13	STAT5A	chr15:58810179-58810729	GM12878	blood:	n/a	n/a
14	MAZ	chr15:58809911-58810869	GM12878	blood:	n/a	chr15:58810774-58810783 chr15:58810530-58810537 chr15:58810529-58810538
15	SPI1	chr15:58809998-58810838	HL-60	blood:	n/a	chr15:58810588-58810601 chr15:58810590-58810599 chr15:58810587-58810600
16	MAX	chr15:58810213-58810681	K562	blood:	n/a	chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
17	ATF2	chr15:58810025-58810912	GM12878	blood:	n/a	n/a
18	SP1	chr15:58810200-58810873	GM12878	blood:	n/a	n/a
19	MYC	chr15:58809844-58810767	NB4	blood:	n/a	chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
20	EBF1	chr15:58810190-58810763	GM12878	blood:	n/a	n/a
21	EP300	chr15:58810023-58810963	GM12878	blood:	n/a	n/a
22	BHLHE40	chr15:58810220-58810849	GM12878	blood:	n/a	n/a
23	SPI1	chr15:58810108-58810333	K562	blood:	n/a	n/a
24	BATF	chr15:58810244-58810728	GM12878	blood:	n/a	n/a
25	MAX	chr15:58810118-58810735	K562	blood:	n/a	chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
26	MAX	chr15:58809732-58810771	NB4	blood:	n/a	chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
27	STAT3	chr15:58810100-58810649	GM12878	blood:	n/a	n/a
28	EP300	chr15:58809620-58810678	GM12878	blood:	n/a	n/a
29	PAX5	chr15:58809952-58810768	GM12878	blood:	n/a	n/a
30	SPI1	chr15:58810030-58810343	GM12891	blood:	n/a	n/a
31	WRNIP1	chr15:58809957-58810626	GM12878	blood:	n/a	n/a
32	IRF4	chr15:58810021-58810773	GM12878	blood:	n/a	n/a
33	SPI1	chr15:58810100-58810376	HL-60	blood:	n/a	n/a
34	SP1	chr15:58810214-58810723	GM12878	blood:	n/a	n/a
35	ATF2	chr15:58809964-58810730	GM12878	blood:	n/a	n/a
36	SPI1	chr15:58810019-58810769	GM12878	blood:	n/a	chr15:58810588-58810601 chr15:58810590-58810599 chr15:58810587-58810600
37	RUNX3	chr15:58809469-58811020	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr15:58809384-58810987	GM12878	blood:	n/a	n/a
39	ELF1	chr15:58810012-58810327	K562	blood:	n/a	n/a
40	EBF1	chr15:58809273-58811041	GM12878	blood:	n/a	n/a
41	YY1	chr15:58810246-58810542	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:58809336-58810752	GM12878	blood:	n/a	n/a
43	TCF12	chr15:58810243-58810722	GM12878	blood:	n/a	n/a
44	SMC3	chr15:58810223-58810992	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58808761..58811985-chr15:58842114..58844975,3	K562	blood:
2	chr15:58805398..58807499-chr15:58809534..58812404,4	MCF-7	breast:
3	chr15:58800669..58805424-chr15:58807712..58810883,4	K562	blood:

Variant related genes	Relation type
ENSG00000259476	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11071384	0.94[EUR][1000 genomes]
rs12441328	0.82[JPT][hapmap]
rs12592017	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900448	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs1869145	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs1968690	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs2414588	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs2899631	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3751543	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4581653	0.93[EUR][1000 genomes]
rs4774301	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4774302	0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4775061	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775062	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775063	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4775064	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4775065	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4775066	0.93[EUR][1000 genomes]
rs4775067	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57887591	0.87[EUR][1000 genomes]
rs6494016	0.91[EUR][1000 genomes]
rs66849766	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180936	0.93[EUR][1000 genomes]
rs7183248	0.91[EUR][1000 genomes]
rs72743015	0.82[ASN][1000 genomes]
rs8028759	0.81[CHB][hapmap]
rs8038906	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58798600-58813200	Weak transcription	Aorta	Aorta
2	chr15:58798800-58812600	Weak transcription	Left Ventricle	heart
3	chr15:58803600-58811800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:58803800-58812600	Weak transcription	Esophagus	oesophagus
5	chr15:58804000-58816200	Weak transcription	Liver	Liver
6	chr15:58806200-58813200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:58806400-58812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:58806400-58813200	Weak transcription	Pancreas	Pancrea
9	chr15:58807000-58812600	Enhancers	Primary T cells from cord blood	blood
10	chr15:58807000-58813400	Weak transcription	Fetal Brain Male	brain
11	chr15:58807600-58815400	Enhancers	Fetal Thymus	thymus
12	chr15:58807800-58811000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:58807800-58811000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr15:58807800-58811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr15:58807800-58811800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr15:58807800-58812600	Enhancers	K562	blood
17	chr15:58807800-58813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr15:58807800-58815800	Enhancers	Primary B cells from cord blood	blood
19	chr15:58807800-58820200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr15:58808000-58810800	Weak transcription	Fetal Kidney	kidney
21	chr15:58808000-58811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:58808400-58813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:58808400-58816200	Weak transcription	HepG2	liver
24	chr15:58809000-58810400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr15:58809000-58811200	Enhancers	Thymus	Thymus
26	chr15:58809000-58811800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:58809000-58812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:58809200-58810600	Enhancers	Placenta	Placenta
29	chr15:58809200-58810800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:58809200-58811200	Enhancers	Brain Hippocampus Middle	brain
31	chr15:58809200-58811200	Flanking Active TSS	GM12878-XiMat	blood
32	chr15:58809200-58811400	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:58809400-58810400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr15:58809400-58810600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:58809400-58810800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:58809400-58810800	Enhancers	Fetal Heart	heart
37	chr15:58809400-58810800	Enhancers	Right Atrium	heart
38	chr15:58809400-58811000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr15:58809400-58811000	Enhancers	Brain Anterior Caudate	brain
40	chr15:58809400-58811000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr15:58809400-58811200	Enhancers	Spleen	Spleen
42	chr15:58809400-58812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:58809600-58810600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:58809600-58811000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr15:58809600-58811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:58809600-58811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:58809600-58812000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr15:58809600-58813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:58809600-58813600	Weak transcription	Stomach Mucosa	stomach
50	chr15:58809600-58814800	Enhancers	Fetal Stomach	stomach

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