Variant report

Variant	rs61586684
Chromosome Location	chr14:71791925-71791926
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	SP1	chr14:71791580-71791988	GM12878	blood:	n/a	n/a
2	BCL3	chr14:71791537-71791951	GM12878	blood:	n/a	n/a
3	NFATC1	chr14:71791363-71792067	GM12878	blood:	n/a	n/a
4	ATF2	chr14:71791450-71792187	GM12878	blood:	n/a	n/a
5	MAFK	chr14:71791872-71792050	K562	blood:	n/a	n/a
6	RELA	chr14:71791459-71792369	GM19099	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
7	SIN3A	chr14:71791704-71792041	GM12878	blood:	n/a	n/a
8	KAP1	chr14:71791593-71791940	U2OS	brain:	n/a	n/a
9	RELA	chr14:71791476-71792223	GM15510	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
10	TAF1	chr14:71791468-71791968	GM12878	blood:	n/a	n/a
11	PML	chr14:71791328-71792193	GM12878	blood:	n/a	n/a
12	STAT5A	chr14:71791464-71792087	GM12878	blood:	n/a	n/a
13	FOXM1	chr14:71791381-71792161	GM12878	blood:	n/a	n/a
14	RELA	chr14:71791453-71792507	GM10847	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
15	MTA3	chr14:71791263-71792079	GM12878	blood:	n/a	n/a
16	NR2F2	chr14:71791539-71791929	K562	blood:	n/a	n/a
17	PAX5	chr14:71791525-71791957	GM12878	blood:	n/a	n/a
18	TEAD4	chr14:71791501-71791952	K562	blood:	n/a	n/a
19	STAT3	chr14:71791488-71792407	GM12878	blood:	n/a	n/a
20	ZMIZ1	chr14:71791571-71792156	K562	blood:	n/a	n/a
21	ATF2	chr14:71791477-71792094	GM12878	blood:	n/a	n/a
22	TEAD4	chr14:71791445-71791979	K562	blood:	n/a	n/a
23	RELA	chr14:71791556-71792150	GM19193	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
24	RELA	chr14:71791492-71792348	GM12878	blood:	n/a	chr14:71791753-71791762 chr14:71791753-71791762
25	BCLAF1	chr14:71791392-71792062	GM12878	blood:	n/a	chr14:71791519-71791528
26	BCLAF1	chr14:71791435-71792007	GM12878	blood:	n/a	chr14:71791519-71791528
27	YY1	chr14:71791543-71791957	GM12891	blood:	n/a	n/a
28	TRIM28	chr14:71791519-71792007	K562	blood:	n/a	n/a
29	MTA3	chr14:71791372-71791955	GM12878	blood:	n/a	n/a
30	ELF1	chr14:71791464-71791969	GM12878	blood:	n/a	n/a
31	ELK1	chr14:71791469-71791926	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:71790674-71793045	GM12878	blood:	n/a	n/a
33	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
34	MXI1	chr14:71791031-71792937	GM12878	blood:	n/a	n/a
35	RUNX3	chr14:71791332-71793080	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:71791498-71791949	GM12891	blood:	n/a	n/a
37	BCL11A	chr14:71791568-71791996	GM12878	blood:	n/a	n/a
38	RAD21	chr14:71791502-71791960	GM12878	blood:	n/a	n/a
39	NFIC	chr14:71791403-71792080	GM12878	blood:	n/a	n/a
40	TBP	chr14:71791182-71792429	GM12878	blood:	n/a	n/a
41	RFX5	chr14:71791563-71792034	GM12878	blood:	n/a	n/a
42	STAT1	chr14:71791552-71791980	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:71791358-71792254	GM12891	blood:	n/a	n/a
44	ZNF143	chr14:71791670-71791942	K562	blood:	n/a	n/a
45	EP300	chr14:71791452-71792319	GM12878	blood:	n/a	chr14:71791452-71791466
46	CHD1	chr14:71791195-71792889	GM12878	blood:	n/a	n/a
47	NFATC1	chr14:71791380-71792226	GM12878	blood:	n/a	n/a
48	RCOR1	chr14:71791363-71792138	K562	blood:	n/a	n/a
49	POLR2A	chr14:71791383-71791999	GM12891	blood:	n/a	n/a
50	CEBPD	chr14:71791441-71791954	K562	blood:	n/a	chr14:71791666-71791677

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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10129431	0.90[AFR][1000 genomes]
rs10141864	0.89[AFR][1000 genomes]
rs10141975	0.89[AFR][1000 genomes]
rs61419469	0.81[AFR][1000 genomes]
rs7144439	0.86[AFR][1000 genomes]
rs7151209	1.00[AFR][1000 genomes]
rs7159161	0.82[AFR][1000 genomes]
rs718853	0.87[AFR][1000 genomes]
rs73302913	0.82[AFR][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	chr14:71789600-71792000	Enhancers	HepG2	liver
15	chr14:71789800-71792200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:71789800-71792400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:71789800-71793000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr14:71789800-71794800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:71789800-71797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:71790000-71792400	Enhancers	Hela-S3	cervix
22	chr14:71790000-71795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:71790000-71796000	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:71790200-71792800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:71790200-71794400	Weak transcription	Fetal Lung	lung
26	chr14:71790200-71798000	Weak transcription	Brain Angular Gyrus	brain
27	chr14:71790400-71792000	Enhancers	HMEC	breast
28	chr14:71790400-71794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:71790800-71792800	Enhancers	Stomach Mucosa	stomach
30	chr14:71790800-71793000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:71791000-71792000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr14:71791000-71792200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr14:71791000-71792200	Enhancers	Brain Hippocampus Middle	brain
34	chr14:71791000-71792800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:71791000-71792800	Enhancers	Primary hematopoietic stem cells	blood
36	chr14:71791000-71792800	Enhancers	Liver	Liver
37	chr14:71791000-71792800	Enhancers	Brain Anterior Caudate	brain
38	chr14:71791000-71793000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:71791000-71793000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:71791000-71793000	Enhancers	Fetal Heart	heart
41	chr14:71791200-71792800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:71791200-71792800	Enhancers	Brain Cingulate Gyrus	brain
43	chr14:71791200-71793000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:71791400-71792000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr14:71791400-71792000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:71791400-71792000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr14:71791400-71792000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr14:71791400-71792000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:71791400-71792000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71791400-71792200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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