Variant report

Variant	rs3763508
Chromosome Location	chr7:16461963-16461964
allele	A/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	CCNT2	chr7:16461906-16462095	K562	blood:	n/a	n/a
2	CEBPB	chr7:16461637-16462027	IMR90	lung:	n/a	chr7:16461821-16461832
3	POLR2A	chr7:16460026-16462152	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr7:16461633-16462030	K562	blood:	n/a	chr7:16461821-16461832
5	MYC	chr7:16460021-16461981	NB4	blood:	n/a	n/a
6	TEAD4	chr7:16461393-16462203	ECC-1	luminal epithelium:	n/a	n/a
7	MXI1	chr7:16459632-16462117	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr7:16461738-16462115	ECC-1	luminal epithelium:	n/a	n/a
9	MAFK	chr7:16461467-16462279	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:16461526-16462012	K562	blood:	n/a	chr7:16461821-16461832
11	CBX3	chr7:16461523-16462138	K562	blood:	n/a	n/a
12	ARID3A	chr7:16461914-16463016	K562	blood:	n/a	chr7:16462172-16462188
13	MYC	chr7:16461926-16462020	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr7:16461567-16462009	HL-60	blood:	n/a	n/a
15	MAFF	chr7:16461258-16462021	K562	blood:	n/a	chr7:16461659-16461677 chr7:16461706-16461724
16	CEBPB	chr7:16461652-16462008	A549	lung:	n/a	chr7:16461821-16461832
17	EP300	chr7:16460909-16462135	ECC-1	luminal epithelium:	n/a	chr7:16461194-16461210
18	CEBPB	chr7:16461646-16462018	HepG2	liver:	n/a	chr7:16461821-16461832
19	POLR2A	chr7:16459172-16462043	K562	blood:	n/a	n/a
20	TCF12	chr7:16461324-16462178	ECC-1	luminal epithelium:	n/a	chr7:16461886-16461894
21	MAFF	chr7:16461493-16462202	HepG2	liver:	n/a	chr7:16461659-16461677 chr7:16461706-16461724
22	CEBPB	chr7:16461577-16462027	ECC-1	luminal epithelium:	n/a	chr7:16461821-16461832
23	TEAD4	chr7:16461034-16462208	K562	blood:	n/a	n/a
24	SRF	chr7:16461595-16462162	ECC-1	luminal epithelium:	n/a	chr7:16461908-16461921
25	POLR2A	chr7:16459361-16462074	K562	blood:	n/a	n/a
26	SRF	chr7:16461587-16462175	ECC-1	luminal epithelium:	n/a	chr7:16461908-16461921
27	CEBPB	chr7:16461555-16462098	ECC-1	luminal epithelium:	n/a	chr7:16461821-16461832
28	MYC	chr7:16459554-16462082	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16460189..16463814-chr7:16683756..16686111,3	MCF-7	breast:
2	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
5	chr7:16161067..16163627-chr7:16461364..16462917,2	K562	blood:
6	chr7:16309917..16312167-chr7:16461370..16463570,2	K562	blood:
7	chr7:16242935..16245142-chr7:16460996..16462500,2	MCF-7	breast:

Variant related genes	Relation type
ISPD	TF binding region
ENSG00000106537	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10229444	1.00[AMR][1000 genomes]
rs10257743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267704	0.83[EUR][1000 genomes]
rs10273034	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16878759	1.00[AMR][1000 genomes]
rs17169461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17169466	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17169476	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169488	1.00[AMR][1000 genomes]
rs17169493	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1882382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921832	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1921833	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2178599	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301969	1.00[AMR][1000 genomes]
rs2389639	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6461256	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308344	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7803246	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886014	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16459600-16462000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:16461200-16462000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:16461200-16462000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:16461200-16462000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:16461200-16462000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:16461200-16462000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr7:16461200-16462000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:16461200-16462000	Flanking Active TSS	Fetal Lung	lung
9	chr7:16461200-16462000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:16461200-16462000	Flanking Active TSS	Osteobl	bone
11	chr7:16461400-16462000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:16461400-16462000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:16461400-16462000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:16461400-16462000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr7:16461400-16462000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr7:16461400-16462000	Flanking Active TSS	Fetal Kidney	kidney
17	chr7:16461400-16462000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:16461400-16462000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:16461400-16462000	Enhancers	Small Intestine	intestine
20	chr7:16461400-16462000	Flanking Active TSS	A549	lung
21	chr7:16461400-16462000	Flanking Active TSS	HepG2	liver
22	chr7:16461400-16462200	Flanking Active TSS	K562	blood
23	chr7:16461400-16462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:16461400-16462400	Weak transcription	Left Ventricle	heart
25	chr7:16461400-16462800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:16461400-16463000	Enhancers	Stomach Mucosa	stomach
27	chr7:16461400-16469000	Weak transcription	Aorta	Aorta
28	chr7:16461600-16462000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:16461600-16462000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:16461600-16462000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr7:16461600-16462000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr7:16461600-16462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:16461600-16462000	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:16461600-16462000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:16461600-16462000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:16461600-16462000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:16461600-16462000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:16461600-16462000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:16461600-16462000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:16461600-16462000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:16461600-16462000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:16461600-16462000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:16461600-16462000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:16461600-16462000	Enhancers	Fetal Stomach	stomach
45	chr7:16461600-16462000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:16461600-16462000	Enhancers	HSMMtube	muscle
47	chr7:16461600-16462000	Enhancers	NH-A	brain
48	chr7:16461600-16462200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:16461600-16462200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:16461600-16462200	Enhancers	Fetal Muscle Leg	muscle

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