Variant report

Variant	rs6500339
Chromosome Location	chr16:48190588-48190589
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	RAD21	chr16:48190476-48191179	A549	lung:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
2	RCOR1	chr16:48190458-48191586	IMR90	lung:	n/a	n/a
3	RAD21	chr16:48190545-48191120	MCF-7	breast:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
4	CREB1	chr16:48190587-48191024	A549	lung:	n/a	n/a
5	JUND	chr16:48190576-48191009	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr16:48190522-48191114	A549	lung:	n/a	n/a
7	MYC	chr16:48190577-48190938	H1-hESC	embryonic stem cell:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
8	CTCF	chr16:48190419-48191189	HCT-116	colon:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
9	RAD21	chr16:48190499-48191062	H1-hESC	embryonic stem cell:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
10	MAX	chr16:48190395-48191004	K562	blood:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
11	JUND	chr16:48190586-48190927	A549	lung:	n/a	n/a
12	BCL3	chr16:48190378-48190754	A549	lung:	n/a	n/a
13	E2F6	chr16:48190566-48191025	A549	lung:	n/a	n/a
14	CTCF	chr16:48190581-48190914	A549	lung:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
15	MAX	chr16:48190462-48191174	HCT-116	colon:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
16	RAD21	chr16:48190397-48191426	SK-N-SH	brain:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
17	MYC	chr16:48190446-48191078	A549	lung:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
18	MXI1	chr16:48190379-48191115	IMR90	lung:	n/a	n/a
19	MAX	chr16:48190562-48190972	H1-hESC	embryonic stem cell:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
20	SP1	chr16:48190426-48191026	A549	lung:	n/a	n/a
21	CTCF	chr16:48190581-48190971	K562	blood:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
22	MYC	chr16:48190510-48190996	K562	blood:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
23	CTCF	chr16:48190368-48191408	SK-N-SH	brain:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
24	MAX	chr16:48190494-48191046	HepG2	liver:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
25	MAX	chr16:48190398-48191124	A549	lung:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
26	FOXM1	chr16:48190577-48191046	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:48190557-48191011	IMR90	lung:	n/a	n/a
28	MYC	chr16:48190587-48191010	NB4	blood:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
29	MAX	chr16:48190483-48191016	NB4	blood:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
30	YY1	chr16:48190579-48190957	HepG2	liver:	n/a	n/a
31	SMC3	chr16:48190331-48191274	SK-N-SH	brain:	n/a	chr16:48190824-48190834 chr16:48190824-48190838
32	MYC	chr16:48190573-48190981	MCF10A-Er-Src	breast:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
33	RAD21	chr16:48190541-48191072	H1-hESC	embryonic stem cell:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
34	MAX	chr16:48190512-48191018	SK-N-SH	brain:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
35	SMC3	chr16:48190513-48191037	Hela-S3	cervix:	n/a	chr16:48190824-48190834 chr16:48190824-48190838
36	RAD21	chr16:48190446-48191232	HCT-116	colon:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
37	RAD21	chr16:48190585-48191024	HepG2	liver:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
38	MYC	chr16:48190569-48191016	K562	blood:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
39	RAD21	chr16:48190479-48191040	H1-hESC	embryonic stem cell:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
40	CTCF	chr16:48190354-48191613	A549	lung:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
41	RAD21	chr16:48190478-48191049	SK-N-SH_RA	brain:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
42	SMC3	chr16:48190585-48191195	GM12878	blood:	n/a	chr16:48190824-48190834 chr16:48190824-48190838
43	RAD21	chr16:48190486-48191070	IMR90	lung:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
44	RAD21	chr16:48190505-48191196	HCT-116	colon:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
45	MAX	chr16:48190299-48191170	A549	lung:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
46	RAD21	chr16:48190576-48191043	GM12878	blood:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
47	CTCF	chr16:48190580-48191009	K562	blood:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
48	POLR2A	chr16:48190512-48191019	GM12892	blood:	n/a	n/a
49	MAX	chr16:48190574-48191057	HepG2	liver:	n/a	chr16:48190770-48190777 chr16:48190771-48190787 chr16:48190769-48190778
50	WRNIP1	chr16:48190516-48190950	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47175322..47176299-chr16:48190360..48191104,3	K562	blood:
2	chr16:48151128..48152237-chr16:48190393..48191453,6	MCF-7	breast:
3	chr16:47175296..47177509-chr16:48190040..48191217,7	MCF-7	breast:
4	chr16:48151208..48152156-chr16:48190003..48191037,5	MCF-7	breast:
5	chr16:48151213..48152149-chr16:48190361..48191030,3	K562	blood:
6	chr16:48160028..48160849-chr16:48189962..48191269,4	MCF-7	breast:
7	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:
8	chr16:47071429..47072310-chr16:48190272..48191310,4	K562	blood:

Variant related genes	Relation type
ABCC12	TF binding region
ENSG00000069345	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10163354	0.92[ASN][1000 genomes]
rs10163462	0.92[ASN][1000 genomes]
rs11861031	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11861127	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11863133	0.85[ASN][1000 genomes]
rs11863233	0.85[ASN][1000 genomes]
rs11863236	0.85[ASN][1000 genomes]
rs11863325	0.92[ASN][1000 genomes]
rs11866251	0.92[ASN][1000 genomes]
rs11866312	0.85[ASN][1000 genomes]
rs11866529	0.85[ASN][1000 genomes]
rs16945916	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945917	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945919	0.92[ASN][1000 genomes]
rs16945972	0.85[ASN][1000 genomes]
rs17743256	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376623	0.85[ASN][1000 genomes]
rs28503414	0.85[ASN][1000 genomes]
rs28626252	0.85[ASN][1000 genomes]
rs28654935	0.85[ASN][1000 genomes]
rs28684834	0.85[ASN][1000 genomes]
rs28696036	0.85[ASN][1000 genomes]
rs41280939	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5017203	0.85[ASN][1000 genomes]
rs57912486	0.92[ASN][1000 genomes]
rs62058521	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62058522	0.92[ASN][1000 genomes]
rs62058526	0.92[ASN][1000 genomes]
rs62058528	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7184831	0.92[ASN][1000 genomes]
rs7187233	0.92[ASN][1000 genomes]
rs7191844	0.92[ASN][1000 genomes]
rs7203695	0.92[ASN][1000 genomes]
rs7206909	0.92[ASN][1000 genomes]
rs73540901	0.85[ASN][1000 genomes]
rs73542903	0.85[ASN][1000 genomes]
rs73542904	0.85[ASN][1000 genomes]
rs74018298	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018300	0.92[ASN][1000 genomes]
rs8046814	0.85[ASN][1000 genomes]
rs8047091	0.85[ASN][1000 genomes]
rs8050120	0.92[ASN][1000 genomes]
rs8051016	0.85[ASN][1000 genomes]
rs8051205	0.85[ASN][1000 genomes]
rs8057475	0.85[ASN][1000 genomes]
rs957881	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932850	0.85[ASN][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48186600-48190800	Enhancers	Fetal Brain Male	brain
2	chr16:48189000-48190800	Enhancers	Left Ventricle	heart
3	chr16:48189600-48191000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr16:48189600-48191000	Enhancers	Lung	lung
5	chr16:48189600-48193200	Enhancers	A549	lung
6	chr16:48189800-48190800	Enhancers	Fetal Brain Female	brain
7	chr16:48189800-48190800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr16:48190000-48190800	Enhancers	Right Atrium	heart
9	chr16:48190200-48190600	Enhancers	Adipose Nuclei	Adipose
10	chr16:48190200-48190800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:48190400-48190600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:48190400-48190600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:48190400-48190600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:48190400-48190600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:48190400-48190600	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:48190400-48190600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr16:48190400-48190600	Bivalent Enhancer	HepG2	liver
18	chr16:48190400-48190600	Active TSS	HSMM	muscle
19	chr16:48190400-48190800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:48190400-48190800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr16:48190400-48190800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:48190400-48190800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr16:48190400-48190800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr16:48190400-48190800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:48190400-48190800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr16:48190400-48190800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:48190400-48190800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:48190400-48190800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:48190400-48190800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:48190400-48190800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:48190400-48190800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:48190400-48190800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr16:48190400-48190800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr16:48190400-48190800	Enhancers	Fetal Thymus	thymus
35	chr16:48190400-48190800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr16:48190400-48190800	Bivalent Enhancer	Dnd41	blood
37	chr16:48190400-48191000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:48190400-48191000	Enhancers	Primary B cells from peripheral blood	blood
39	chr16:48190400-48191000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:48190400-48191000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:48190400-48192800	Enhancers	HMEC	breast

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