Variant report

Variant	rs61984453
Chromosome Location	chr14:64854478-64854479
allele	A/C
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	POLR2A	chr14:64853831-64856170	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:64853977-64855288	IMR90	lung:	n/a	n/a
3	MAX	chr14:64853990-64855903	Hela-S3	cervix:	n/a	chr14:64855054-64855064 chr14:64855052-64855062 chr14:64855052-64855067 chr14:64854209-64854216 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64854327-64854336 chr14:64855054-64855063 chr14:64854250-64854259
4	MAZ	chr14:64854257-64855299	HepG2	liver:	n/a	chr14:64855054-64855064 chr14:64855052-64855067 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64854327-64854336 chr14:64855054-64855063
5	TBP	chr14:64853996-64855855	K562	blood:	n/a	n/a
6	POLR2A	chr14:64853709-64855679	GM12878	blood:	n/a	n/a
7	EP300	chr14:64854448-64855021	K562	blood:	n/a	n/a
8	YY1	chr14:64854295-64854817	K562	blood:	n/a	n/a
9	POLR2A	chr14:64853980-64855501	GM18526	blood:	n/a	n/a
10	MXI1	chr14:64853786-64856237	SK-N-SH	brain:	n/a	chr14:64855055-64855064
11	POLR2A	chr14:64853659-64856145	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:64853777-64855811	GM12891	blood:	n/a	n/a
13	FOXM1	chr14:64854014-64855439	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:64853983-64855287	HepG2	liver:	n/a	n/a
15	ATF3	chr14:64854280-64855279	A549	lung:	n/a	chr14:64854725-64854734 chr14:64854800-64854808
16	TAF1	chr14:64853844-64855860	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr14:64854462-64854790	K562	blood:	n/a	n/a
18	E2F4	chr14:64854439-64855471	K562	blood:	n/a	chr14:64854852-64854861 chr14:64854748-64854757 chr14:64854822-64854829 chr14:64854530-64854540 chr14:64854687-64854695 chr14:64854524-64854538 chr14:64854805-64854816 chr14:64854687-64854695 chr14:64854807-64854814 chr14:64854974-64854983 chr14:64854807-64854814 chr14:64855016-64855025 chr14:64854806-64854815 chr14:64854807-64854814
19	POLR2A	chr14:64853846-64855463	K562	blood:	n/a	n/a
20	EP300	chr14:64854420-64855313	HepG2	liver:	n/a	n/a
21	USF1	chr14:64854434-64855233	A549	lung:	n/a	n/a
22	POLR2A	chr14:64853993-64854703	A549	lung:	n/a	n/a
23	YY1	chr14:64854449-64854730	K562	blood:	n/a	n/a
24	ETS1	chr14:64854066-64855284	A549	lung:	n/a	n/a
25	TAF7	chr14:64854290-64855310	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:64853961-64855749	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:64854320-64855339	Gliobla	brain:	n/a	n/a
28	POLR2A	chr14:64853955-64855499	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:64854401-64854779	HepG2	liver:	n/a	n/a
30	CHD1	chr14:64854087-64854681	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:64853955-64855246	K562	blood:	n/a	n/a
32	POLR2A	chr14:64853976-64855469	A549	lung:	n/a	n/a
33	NFYB	chr14:64854429-64855082	K562	blood:	n/a	chr14:64854744-64854759 chr14:64854746-64854761 chr14:64854747-64854757 chr14:64854746-64854759 chr14:64854744-64854759 chr14:64854745-64854759
34	POLR2A	chr14:64854339-64855286	K562	blood:	n/a	n/a
35	MAX	chr14:64854080-64855304	A549	lung:	n/a	chr14:64855054-64855064 chr14:64855052-64855062 chr14:64855052-64855067 chr14:64854209-64854216 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64854327-64854336 chr14:64855054-64855063 chr14:64854250-64854259
36	MAX	chr14:64853929-64855636	SK-N-SH	brain:	n/a	chr14:64855054-64855064 chr14:64855052-64855062 chr14:64855052-64855067 chr14:64854209-64854216 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64854327-64854336 chr14:64855054-64855063 chr14:64854250-64854259
37	TAF1	chr14:64854241-64855382	GM12878	blood:	n/a	n/a
38	TAF1	chr14:64854434-64854828	K562	blood:	n/a	n/a
39	HEY1	chr14:64854292-64855304	K562	blood:	n/a	n/a
40	ZBTB33	chr14:64854459-64854914	HepG2	liver:	n/a	chr14:64854699-64854714
41	GABPA	chr14:64854342-64855712	MCF-7	breast:	n/a	chr14:64855006-64855015 chr14:64854970-64854984 chr14:64855015-64855026 chr14:64854973-64854982 chr14:64854975-64854984 chr14:64854973-64854984 chr14:64855015-64855029
42	TAL1	chr14:64854050-64854714	K562	blood:	n/a	n/a
43	ZBTB33	chr14:64854461-64854922	K562	blood:	n/a	chr14:64854699-64854714
44	MYC	chr14:64854345-64855569	K562	blood:	n/a	chr14:64855054-64855064 chr14:64855052-64855062 chr14:64855052-64855067 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64855054-64855063
45	BHLHE40	chr14:64854403-64855459	K562	blood:	n/a	n/a
46	POLR2A	chr14:64853889-64855527	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:64854285-64855446	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr14:64854025-64854578	H1-hESC	embryonic stem cell:	n/a	chr14:64854209-64854216 chr14:64854327-64854336 chr14:64854250-64854259
49	ELK4	chr14:64854378-64855405	Hela-S3	cervix:	n/a	chr14:64854858-64854869
50	MYC	chr14:64854197-64855289	MCF10A-Er-Src	breast:	n/a	chr14:64855054-64855064 chr14:64855052-64855062 chr14:64855052-64855067 chr14:64854209-64854216 chr14:64855050-64855065 chr14:64855055-64855062 chr14:64855053-64855064 chr14:64854327-64854336 chr14:64855054-64855063 chr14:64854250-64854259

No.	Distal block	Cell Line	Cell type
1	chr14:64804701..64805229-chr14:64854266..64854945,2	Hela-S3	cervix:
2	chr14:64854138..64855116-chr17:79670336..79671183,2	Hela-S3	cervix:
3	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
4	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
5	chr14:64853142..64856847-chr14:64968558..64973163,8	K562	blood:
6	chr14:64853920..64855626-chr14:65380962..65383011,2	MCF-7	breast:
7	chr14:64853800..64856722-chr14:64883915..64886482,2	MCF-7	breast:
8	chr14:64853000..64857077-chr14:64970157..64972159,5	MCF-7	breast:
9	chr14:64849072..64851783-chr14:64852563..64854681,2	K562	blood:
10	chr14:64805277..64807089-chr14:64853827..64855475,2	MCF-7	breast:
11	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
12	chr14:64853961..64855505-chr14:64914376..64916038,2	K562	blood:
13	chr1:233749021..233750010-chr14:64854147..64854655,2	Hela-S3	cervix:
14	chr14:64804489..64807619-chr14:64853862..64856673,3	MCF-7	breast:
15	chr14:64854320..64854978-chr20:34252127..34253078,2	Hela-S3	cervix:
16	chr12:120638462..120639100-chr14:64854397..64855052,2	Hela-S3	cervix:
17	chr14:64854390..64855174-chr5:43483705..43484296,2	Hela-S3	cervix:

Variant related genes	Relation type
MTHFD1	TF binding region
ENSG00000262660	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000214078	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000183048	Chromatin interaction
ENSG00000262814	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000258824	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000244462	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000135750	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2987975	0.81[AMR][1000 genomes]
rs57486119	0.86[EUR][1000 genomes]
rs61984418	0.84[AMR][1000 genomes]
rs61984419	0.84[AMR][1000 genomes]
rs61984420	0.84[AMR][1000 genomes]
rs61984444	0.84[AMR][1000 genomes]
rs61984459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61985961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64852600-64857000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:64852800-64856800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:64853000-64857000	Active TSS	K562	blood
4	chr14:64853200-64855400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:64853200-64856600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:64853200-64856600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr14:64853200-64856800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:64853400-64856600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:64853400-64857000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:64853600-64854600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:64853800-64854600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr14:64853800-64854600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:64853800-64854600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:64853800-64854600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:64853800-64854600	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr14:64853800-64854600	Flanking Active TSS	HMEC	breast
17	chr14:64853800-64854600	Flanking Active TSS	HUVEC	blood vessel
18	chr14:64853800-64855200	Active TSS	Duodenum Mucosa	Duodenum
19	chr14:64853800-64855400	Active TSS	Brain Angular Gyrus	brain
20	chr14:64853800-64855600	Active TSS	Brain Germinal Matrix	brain
21	chr14:64853800-64855600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr14:64853800-64855800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:64853800-64855800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:64853800-64855800	Active TSS	Colon Smooth Muscle	Colon
25	chr14:64853800-64855800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr14:64853800-64855800	Active TSS	Fetal Kidney	kidney
27	chr14:64853800-64855800	Active TSS	Fetal Stomach	stomach
28	chr14:64853800-64856200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:64853800-64856200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:64853800-64856200	Active TSS	Esophagus	oesophagus
31	chr14:64853800-64856200	Active TSS	Fetal Intestine Large	intestine
32	chr14:64853800-64856200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:64853800-64856400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:64853800-64856400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:64853800-64856400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:64853800-64856400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64853800-64856400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:64853800-64856400	Active TSS	Thymus	Thymus
39	chr14:64853800-64856600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:64853800-64856600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:64853800-64856600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:64853800-64856600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:64853800-64856600	Active TSS	A549	lung
44	chr14:64853800-64856600	Active TSS	HSMM	muscle
45	chr14:64853800-64856600	Active TSS	NHDF-Ad	bronchial
46	chr14:64854000-64854600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr14:64854000-64854600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:64854000-64854600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:64854000-64854600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr14:64854000-64854600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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