Variant report

Variant	rs3751543
Chromosome Location	chr15:58810913-58810914
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	BCLAF1	chr15:58810259-58810916	GM12878	blood:	n/a	n/a
2	MAX	chr15:58810324-58810989	GM12878	blood:	n/a	chr15:58810774-58810783 chr15:58810530-58810537 chr15:58810528-58810538 chr15:58810529-58810538
3	RUNX3	chr15:58809981-58811171	GM12878	blood:	n/a	n/a
4	MTA3	chr15:58809373-58811121	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:58809869-58810916	GM12878	blood:	n/a	n/a
6	EP300	chr15:58810023-58810963	GM12878	blood:	n/a	n/a
7	RUNX3	chr15:58809469-58811020	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr15:58809384-58810987	GM12878	blood:	n/a	n/a
9	EBF1	chr15:58809273-58811041	GM12878	blood:	n/a	n/a
10	YY1	chr15:58810630-58810940	GM12878	blood:	n/a	n/a
11	SMC3	chr15:58810223-58810992	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000259476	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11071384	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12592017	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12900448	0.81[AMR][1000 genomes]
rs1968690	0.81[AMR][1000 genomes]
rs1979177	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2414588	0.81[AMR][1000 genomes]
rs2899631	0.82[AMR][1000 genomes]
rs4581653	0.82[AMR][1000 genomes]
rs4775066	0.82[AMR][1000 genomes]
rs57887591	0.82[AMR][1000 genomes]
rs6494016	0.81[AMR][1000 genomes]
rs66849766	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7180936	0.81[AMR][1000 genomes]
rs8038906	0.81[AMR][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:59 , 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	chr15:58808000-58811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:58808400-58813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:58808400-58816200	Weak transcription	HepG2	liver
23	chr15:58809000-58811200	Enhancers	Thymus	Thymus
24	chr15:58809000-58811800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:58809000-58812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:58809200-58811200	Enhancers	Brain Hippocampus Middle	brain
27	chr15:58809200-58811200	Flanking Active TSS	GM12878-XiMat	blood
28	chr15:58809200-58811400	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:58809400-58811000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr15:58809400-58811000	Enhancers	Brain Anterior Caudate	brain
31	chr15:58809400-58811000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr15:58809400-58811200	Enhancers	Spleen	Spleen
33	chr15:58809400-58812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:58809600-58811000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr15:58809600-58811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:58809600-58811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:58809600-58812000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:58809600-58813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:58809600-58813600	Weak transcription	Stomach Mucosa	stomach
40	chr15:58809600-58814800	Enhancers	Fetal Stomach	stomach
41	chr15:58809600-58817000	Enhancers	Brain Substantia Nigra	brain
42	chr15:58809800-58811000	Enhancers	Primary B cells from peripheral blood	blood
43	chr15:58810000-58811000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:58810000-58813200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:58810000-58813600	Weak transcription	Brain Angular Gyrus	brain
46	chr15:58810200-58811200	Enhancers	Dnd41	blood
47	chr15:58810200-58811800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:58810200-58812400	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:58810200-58813200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr15:58810200-58813400	Weak transcription	HSMMtube	muscle

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