Variant report

Variant	rs3783639
Chromosome Location	chr14:55348666-55348667
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	SMC3	chr14:55348662-55348675	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:55348491-55348875	GM12878	blood:	n/a	n/a
3	ELK1	chr14:55348589-55348807	GM12878	blood:	n/a	n/a
4	RFX5	chr14:55348044-55349924	SK-N-SH	brain:	n/a	chr14:55349620-55349629 chr14:55349597-55349605
5	RUNX3	chr14:55348486-55349073	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:55348584-55348907	GM12878	blood:	n/a	n/a
7	IRF1	chr14:55348666-55348964	K562	blood:	n/a	chr14:55348801-55348815 chr14:55348801-55348811 chr14:55348797-55348811 chr14:55348801-55348812 chr14:55348799-55348812 chr14:55348802-55348813 chr14:55348799-55348812 chr14:55348799-55348812
8	PML	chr14:55347841-55348972	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:55348056-55348862	HUVEC	blood vessel:	n/a	n/a
10	BCLAF1	chr14:55347924-55348724	GM12878	blood:	n/a	chr14:55348195-55348204
11	TBP	chr14:55347985-55349003	GM12878	blood:	n/a	n/a
12	MTA3	chr14:55347981-55348942	GM12878	blood:	n/a	n/a
13	MTA3	chr14:55347857-55348866	GM12878	blood:	n/a	n/a
14	ATF2	chr14:55348036-55348807	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:55347929-55349095	GM12878	blood:	n/a	n/a
16	GATA1	chr14:55348381-55349698	PBDE	blood:	n/a	chr14:55349576-55349589 chr14:55349578-55349588 chr14:55349573-55349594 chr14:55349578-55349587 chr14:55349575-55349591 chr14:55349580-55349587
17	EBF1	chr14:55348030-55348781	GM12878	blood:	n/a	n/a
18	BCLAF1	chr14:55347970-55348963	GM12878	blood:	n/a	chr14:55348195-55348204 chr14:55348801-55348810
19	POLR2A	chr14:55348541-55348983	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:55348208-55348686	U87	brain:	n/a	n/a
21	MXI1	chr14:55347981-55348944	GM12878	blood:	n/a	n/a
22	YY1	chr14:55348075-55348712	GM12878	blood:	n/a	chr14:55348322-55348332
23	EP300	chr14:55347820-55350131	SK-N-SH	brain:	n/a	chr14:55348166-55348180 chr14:55348796-55348810 chr14:55348744-55348752
24	IRF1	chr14:55348012-55349360	K562	blood:	n/a	chr14:55348193-55348206 chr14:55348801-55348815 chr14:55348190-55348204 chr14:55348801-55348811 chr14:55348194-55348208 chr14:55348193-55348206 chr14:55348797-55348811 chr14:55348188-55348205 chr14:55348193-55348206 chr14:55349323-55349339 chr14:55348172-55348188 chr14:55348194-55348204 chr14:55348801-55348812 chr14:55348799-55348812 chr14:55348192-55348203 chr14:55348802-55348813 chr14:55348193-55348207 chr14:55348799-55348812 chr14:55348799-55348812 chr14:55348464-55348478 chr14:55348193-55348204
25	POLR2A	chr14:55348002-55348835	GM12892	blood:	n/a	n/a
26	MXI1	chr14:55347817-55349899	SK-N-SH	brain:	n/a	n/a
27	ZNF143	chr14:55347988-55348916	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:55348537-55348688	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55344081..55346333-chr14:55348656..55350611,2	K562	blood:
2	chr14:55348331..55350043-chr14:55361093..55363707,2	K562	blood:

Variant related genes	Relation type
MIR4308	TF binding region
ENSG00000265432	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11626210	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128052	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34544088	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759662	0.85[ASN][1000 genomes]
rs3759663	0.85[ASN][1000 genomes]
rs3783641	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56013432	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57095876	0.95[ASN][1000 genomes]
rs58293795	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67620272	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147201	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713477	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713482	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8017210	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8020798	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3323442	chr14:55346027-55348775	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv3358447	chr14:55346377-55348700	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:55347600-55349000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:55347600-55349200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:55347600-55349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:55347600-55349400	Flanking Active TSS	Dnd41	blood
7	chr14:55347800-55348800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:55347800-55348800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:55347800-55348800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:55347800-55348800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr14:55347800-55348800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:55347800-55348800	Active TSS	Right Atrium	heart
13	chr14:55347800-55348800	Active TSS	NHDF-Ad	bronchial
14	chr14:55347800-55348800	Active TSS	NHLF	lung
15	chr14:55347800-55349000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:55347800-55349000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr14:55347800-55349000	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr14:55347800-55349000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:55347800-55349000	Active TSS	Aorta	Aorta
20	chr14:55347800-55349000	Active TSS	Psoas Muscle	Psoas
21	chr14:55347800-55349000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:55347800-55349000	Active TSS	Thymus	Thymus
23	chr14:55347800-55349000	Flanking Active TSS	HMEC	breast
24	chr14:55347800-55349200	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:55347800-55349200	Flanking Active TSS	NHEK	skin
26	chr14:55347800-55349600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:55348000-55348800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr14:55348000-55348800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:55348000-55348800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:55348000-55348800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr14:55348000-55348800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:55348000-55348800	Active TSS	Brain Substantia Nigra	brain
33	chr14:55348000-55348800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:55348000-55348800	Active TSS	Fetal Brain Male	brain
35	chr14:55348000-55348800	Flanking Active TSS	Fetal Kidney	kidney
36	chr14:55348000-55348800	Active TSS	Fetal Stomach	stomach
37	chr14:55348000-55348800	Active TSS	Left Ventricle	heart
38	chr14:55348000-55348800	Active TSS	Right Ventricle	heart
39	chr14:55348000-55348800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr14:55348000-55348800	Active TSS	Stomach Mucosa	stomach
41	chr14:55348000-55348800	Active TSS	K562	blood
42	chr14:55348000-55349000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:55348000-55349000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr14:55348000-55349000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:55348000-55349000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:55348000-55349000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr14:55348000-55349000	Active TSS	Brain Angular Gyrus	brain
48	chr14:55348000-55349000	Active TSS	Brain Anterior Caudate	brain
49	chr14:55348000-55349000	Active TSS	Brain Cingulate Gyrus	brain
50	chr14:55348000-55349000	Active TSS	Colon Smooth Muscle	Colon

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