Variant report

Variant	rs74060347
Chromosome Location	chr14:71792003-71792004
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	NFATC1	chr14:71791363-71792067	GM12878	blood:	n/a	n/a
2	ATF2	chr14:71791450-71792187	GM12878	blood:	n/a	n/a
3	MAFK	chr14:71791872-71792050	K562	blood:	n/a	n/a
4	RELA	chr14:71791459-71792369	GM19099	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
5	SIN3A	chr14:71791704-71792041	GM12878	blood:	n/a	n/a
6	RELA	chr14:71791476-71792223	GM15510	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
7	PML	chr14:71791328-71792193	GM12878	blood:	n/a	n/a
8	STAT5A	chr14:71791464-71792087	GM12878	blood:	n/a	n/a
9	FOXM1	chr14:71791381-71792161	GM12878	blood:	n/a	n/a
10	RELA	chr14:71791453-71792507	GM10847	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
11	MTA3	chr14:71791263-71792079	GM12878	blood:	n/a	n/a
12	STAT3	chr14:71791488-71792407	GM12878	blood:	n/a	n/a
13	ZMIZ1	chr14:71791571-71792156	K562	blood:	n/a	n/a
14	ATF2	chr14:71791477-71792094	GM12878	blood:	n/a	n/a
15	RELA	chr14:71791556-71792150	GM19193	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
16	RELA	chr14:71791492-71792348	GM12878	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
17	BCLAF1	chr14:71791392-71792062	GM12878	blood:	n/a	chr14:71791519-71791528
18	BCLAF1	chr14:71791435-71792007	GM12878	blood:	n/a	chr14:71791519-71791528
19	TRIM28	chr14:71791519-71792007	K562	blood:	n/a	n/a
20	POLR2A	chr14:71790674-71793045	GM12878	blood:	n/a	n/a
21	POU2F2	chr14:71791429-71792634	GM12878	blood:	n/a	chr14:71792161-71792168 chr14:71792160-71792169 chr14:71792156-71792174 chr14:71792308-71792329 chr14:71792160-71792171 chr14:71791471-71791484 chr14:71792158-71792172 chr14:71792158-71792170 chr14:71792161-71792169 chr14:71792155-71792176 chr14:71792159-71792169 chr14:71792157-71792172 chr14:71792037-71792052 chr14:71792159-71792169 chr14:71792160-71792170 chr14:71792158-71792171
22	MXI1	chr14:71791031-71792937	GM12878	blood:	n/a	n/a
23	RUNX3	chr14:71791332-71793080	GM12878	blood:	n/a	n/a
24	NFIC	chr14:71791403-71792080	GM12878	blood:	n/a	n/a
25	TBP	chr14:71791182-71792429	GM12878	blood:	n/a	n/a
26	RFX5	chr14:71791563-71792034	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:71791358-71792254	GM12891	blood:	n/a	n/a
28	EP300	chr14:71791452-71792319	GM12878	blood:	n/a	chr14:71791452-71791466
29	CHD1	chr14:71791195-71792889	GM12878	blood:	n/a	n/a
30	NFATC1	chr14:71791380-71792226	GM12878	blood:	n/a	n/a
31	RCOR1	chr14:71791363-71792138	K562	blood:	n/a	n/a
32	RELA	chr14:71791435-71792246	GM18505	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
33	EBF1	chr14:71791464-71792940	GM12878	blood:	n/a	chr14:71791864-71791875
34	CBX3	chr14:71791590-71792061	K562	blood:	n/a	n/a
35	IKZF1	chr14:71791532-71792985	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:71791414-71792031	GM12892	blood:	n/a	n/a
37	EP300	chr14:71791472-71792348	GM12878	blood:	n/a	n/a
38	SMC3	chr14:71791442-71792262	GM12878	blood:	n/a	chr14:71791722-71791730
39	ZNF384	chr14:71791635-71793095	GM12878	blood:	n/a	n/a
40	RELA	chr14:71791483-71792890	GM12891	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
41	NFIC	chr14:71791342-71792353	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:71791377-71792004	GM12892	blood:	n/a	n/a
43	MAZ	chr14:71791509-71792027	K562	blood:	n/a	n/a
44	RELA	chr14:71791522-71792768	GM18951	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
45	CUX1	chr14:71791417-71792415	GM12878	blood:	n/a	n/a
46	TRIM28	chr14:71791680-71792007	K562	blood:	n/a	n/a
47	MEF2A	chr14:71791407-71792010	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:71791484-71792241	GM12878	blood:	n/a	n/a
49	CUX1	chr14:71791500-71792120	K562	blood:	n/a	n/a
50	MAZ	chr14:71791594-71792014	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71790563..71792922-chr14:71795158..71797926,2	MCF-7	breast:
2	chr14:71791240..71793345-chr14:71795264..71797079,2	MCF-7	breast:
3	chr14:71791876..71795993-chr14:71799711..71802625,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	TF binding region
ENSG00000259079	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10147972	1.00[AMR][1000 genomes]
rs55743997	1.00[AMR][1000 genomes]
rs55818518	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56292271	1.00[AMR][1000 genomes]
rs57686599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58545697	1.00[AMR][1000 genomes]
rs58819721	1.00[AMR][1000 genomes]
rs59076222	1.00[AMR][1000 genomes]
rs59579378	1.00[AMR][1000 genomes]
rs60498679	1.00[AMR][1000 genomes]
rs60733352	1.00[AMR][1000 genomes]
rs74060306	1.00[AMR][1000 genomes]
rs74060308	1.00[AMR][1000 genomes]
rs74060312	1.00[AMR][1000 genomes]
rs74060326	1.00[AMR][1000 genomes]
rs74060331	1.00[AMR][1000 genomes]
rs74060332	1.00[AMR][1000 genomes]
rs74060340	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060341	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060349	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71788600-71792800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:71788600-71794600	Weak transcription	Gastric	stomach
3	chr14:71788600-71811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:71788600-71817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:71788800-71793400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:71789000-71792600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:71789000-71793400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:71789000-71793400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:71789000-71800600	Weak transcription	Esophagus	oesophagus
10	chr14:71789200-71792600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:71789200-71796800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:71789200-71800400	Weak transcription	Aorta	Aorta
13	chr14:71789400-71802200	Weak transcription	Fetal Intestine Large	intestine
14	chr14:71789800-71792200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:71789800-71792400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:71789800-71793000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr14:71789800-71794800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:71789800-71797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:71790000-71792400	Enhancers	Hela-S3	cervix
21	chr14:71790000-71795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:71790000-71796000	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:71790200-71792800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:71790200-71794400	Weak transcription	Fetal Lung	lung
25	chr14:71790200-71798000	Weak transcription	Brain Angular Gyrus	brain
26	chr14:71790400-71794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:71790800-71792800	Enhancers	Stomach Mucosa	stomach
28	chr14:71790800-71793000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:71791000-71792200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr14:71791000-71792200	Enhancers	Brain Hippocampus Middle	brain
31	chr14:71791000-71792800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:71791000-71792800	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:71791000-71792800	Enhancers	Liver	Liver
34	chr14:71791000-71792800	Enhancers	Brain Anterior Caudate	brain
35	chr14:71791000-71793000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:71791000-71793000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:71791000-71793000	Enhancers	Fetal Heart	heart
38	chr14:71791200-71792800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:71791200-71792800	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:71791200-71793000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:71791400-71792200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:71791400-71792200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:71791400-71792200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:71791400-71792400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr14:71791400-71792400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:71791400-71792400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:71791400-71792400	Enhancers	K562	blood
48	chr14:71791400-71792600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:71791400-71792600	Enhancers	Fetal Thymus	thymus
50	chr14:71791400-71792600	Enhancers	Thymus	Thymus

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