Variant report

Variant	rs34330530
Chromosome Location	chr15:56286985-56286986
allele	A/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	CEBPB	chr15:56286775-56287121	A549	lung:	n/a	chr15:56286825-56286838
2	RCOR1	chr15:56285091-56287129	Hela-S3	cervix:	n/a	n/a
3	RPC155	chr15:56286572-56287271	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr15:56286883-56287057	K562	blood:	n/a	n/a
5	CEBPB	chr15:56285035-56287150	Hela-S3	cervix:	n/a	chr15:56286825-56286838 chr15:56286689-56286697
6	FOS	chr15:56286866-56287144	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr15:56286509-56287032	K562	blood:	n/a	n/a
8	STAT3	chr15:56286892-56287148	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr15:56284876-56286986	A549	lung:	n/a	chr15:56286558-56286571 chr15:56286555-56286573 chr15:56286557-56286578
10	SMARCB1	chr15:56285180-56287094	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:56284789-56287154	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr15:56285190-56287034	Hela-S3	cervix:	n/a	chr15:56286557-56286571
13	RFX5	chr15:56285109-56287059	Hela-S3	cervix:	n/a	chr15:56286171-56286185
14	FOS	chr15:56286866-56287136	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr15:56286598-56287148	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr15:56284234-56287130	K562	blood:	n/a	n/a
17	MYC	chr15:56285193-56287116	K562	blood:	n/a	chr15:56285420-56285430
18	ATF1	chr15:56286965-56287213	K562	blood:	n/a	n/a
19	GTF3C2	chr15:56286339-56287245	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr15:56282393-56287197	SK-N-SH	brain:	n/a	n/a
21	FOS	chr15:56286388-56287137	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr15:56286535-56287137	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr15:56286800-56287127	HepG2	liver:	n/a	chr15:56286825-56286838
24	UBTF	chr15:56286985-56287070	K562	blood:	n/a	n/a
25	MYC	chr15:56286379-56287063	MCF10A-Er-Src	breast:	n/a	n/a
26	JUND	chr15:56286833-56287199	K562	blood:	n/a	n/a
27	STAT3	chr15:56286155-56287141	MCF10A-Er-Src	breast:	n/a	chr15:56286309-56286317

No.	Distal block	Cell Line	Cell type
1	chr15:56285985..56288747-chr15:56326549..56330061,4	MCF-7	breast:
2	chr15:56286939..56288503-chr15:56293657..56295210,2	K562	blood:
3	chr15:56285499..56287418-chr15:56534884..56536553,2	K562	blood:
4	chr15:56284455..56287261-chr15:56299264..56302045,2	MCF-7	breast:
5	chr15:56282050..56287467-chr15:56534024..56538662,8	MCF-7	breast:

Variant related genes	Relation type
NEDD4	TF binding region
ENSG00000151575	Chromatin interaction
ENSG00000230183	Chromatin interaction
ENSG00000181827	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1112535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909996	0.93[EUR][1000 genomes]
rs12911653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911833	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913147	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12913423	0.92[ASN][1000 genomes]
rs12915953	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976674	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036738	0.86[ASN][1000 genomes]
rs2036740	0.92[ASN][1000 genomes]
rs2899595	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34077395	0.92[ASN][1000 genomes]
rs34236916	0.93[EUR][1000 genomes]
rs34841076	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35215716	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35301686	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35460567	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35662811	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710039	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35836088	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911067	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926005	0.93[EUR][1000 genomes]
rs35967908	0.92[ASN][1000 genomes]
rs57683252	0.89[EUR][1000 genomes]
rs62046376	0.92[ASN][1000 genomes]
rs71476762	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71476763	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476768	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161742	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7179929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56284000-56287000	Active TSS	NHLF	lung
2	chr15:56284200-56287200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:56284600-56287000	Active TSS	Placenta	Placenta
4	chr15:56284600-56287000	Active TSS	NHDF-Ad	bronchial
5	chr15:56284800-56287000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:56285000-56287000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr15:56285000-56287200	Active TSS	K562	blood
8	chr15:56285200-56287000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:56285800-56287200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:56286200-56287200	Enhancers	Spleen	Spleen
11	chr15:56286400-56287000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:56286400-56287000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:56286400-56287000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:56286400-56287000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr15:56286400-56287000	Flanking Active TSS	HMEC	breast
16	chr15:56286400-56287400	Flanking Active TSS	NHEK	skin
17	chr15:56286600-56287000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:56286600-56287000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:56286600-56287000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:56286600-56287000	Enhancers	Fetal Heart	heart
21	chr15:56286600-56287000	Enhancers	Fetal Lung	lung
22	chr15:56286600-56287000	Flanking Active TSS	A549	lung
23	chr15:56286600-56287200	Flanking Active TSS	Hela-S3	cervix
24	chr15:56286600-56287600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr15:56286600-56289200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:56286600-56289200	Weak transcription	Left Ventricle	heart
27	chr15:56286600-56292000	Weak transcription	Esophagus	oesophagus
28	chr15:56286800-56287000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:56286800-56287000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:56286800-56287000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:56286800-56287000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:56286800-56287000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:56286800-56287000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:56286800-56287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:56286800-56287000	Enhancers	Brain Anterior Caudate	brain
36	chr15:56286800-56287000	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr15:56286800-56287000	Enhancers	Fetal Brain Male	brain
38	chr15:56286800-56287000	Bivalent Enhancer	Dnd41	blood
39	chr15:56286800-56287000	Flanking Active TSS	HSMM	muscle
40	chr15:56286800-56287000	Enhancers	HUVEC	blood vessel
41	chr15:56286800-56287000	Enhancers	Osteobl	bone
42	chr15:56286800-56287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:56286800-56287200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:56286800-56287200	Enhancers	Fetal Intestine Large	intestine
45	chr15:56286800-56287200	Enhancers	Fetal Muscle Trunk	muscle
46	chr15:56286800-56287200	Enhancers	Pancreas	Pancrea
47	chr15:56286800-56287200	Enhancers	Right Ventricle	heart
48	chr15:56286800-56287200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:56286800-56287200	Enhancers	HSMMtube	muscle
50	chr15:56286800-56287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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