Variant report

Variant	rs59245613
Chromosome Location	chr14:39643919-39643920
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	CHD2	chr14:39643769-39645117	Hela-S3	cervix:	n/a	chr14:39644663-39644673
2	MAZ	chr14:39643825-39645302	GM12878	blood:	n/a	chr14:39644996-39645003
3	CEBPB	chr14:39643903-39644550	ECC-1	luminal epithelium:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
4	CEBPB	chr14:39643849-39644667	A549	lung:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
5	POLR2A	chr14:39643869-39645235	H1-neurons	neurons:	n/a	n/a
6	CREB1	chr14:39643895-39644693	K562	blood:	n/a	n/a
7	WRNIP1	chr14:39643371-39645398	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:39643915-39644702	U87	brain:	n/a	n/a
9	POLR2A	chr14:39643918-39645308	IMR90	lung:	n/a	n/a
10	REST	chr14:39643618-39645414	HepG2	liver:	n/a	chr14:39644625-39644638
11	CEBPB	chr14:39643853-39644686	MCF-7	breast:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
12	POLR2A	chr14:39643127-39645394	K562	blood:	n/a	n/a
13	YY1	chr14:39643907-39645165	SK-N-SH	brain:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828
14	POLR2A	chr14:39643326-39645159	Hela-S3	cervix:	n/a	n/a
15	EP300	chr14:39643872-39645078	ECC-1	luminal epithelium:	n/a	chr14:39644123-39644131
16	TEAD4	chr14:39643860-39644593	K562	blood:	n/a	n/a
17	BHLHE40	chr14:39643229-39644631	K562	blood:	n/a	n/a
18	EP300	chr14:39643449-39645212	GM12878	blood:	n/a	chr14:39644123-39644131 chr14:39643623-39643637 chr14:39645102-39645116
19	POLR2A	chr14:39643919-39645402	HepG2	liver:	n/a	n/a
20	NR2F2	chr14:39643797-39644605	K562	blood:	n/a	n/a
21	KAP1	chr14:39643585-39644699	HEK293	kidney:	n/a	n/a
22	MAX	chr14:39643891-39645192	ECC-1	luminal epithelium:	n/a	chr14:39644996-39645003
23	MTA3	chr14:39643791-39644944	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:39643731-39645159	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:39643882-39644762	MCF-7	breast:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
26	JUND	chr14:39643885-39645215	MCF-7	breast:	n/a	chr14:39644849-39644863 chr14:39644715-39644724
27	TAF1	chr14:39643768-39645224	ECC-1	luminal epithelium:	n/a	n/a
28	ZNF263	chr14:39643585-39645061	HEK293-T-REx	kidney:	n/a	n/a
29	POLR2A	chr14:39643802-39644739	SK-N-SH	brain:	n/a	n/a
30	HDAC2	chr14:39643919-39644682	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:39643663-39645232	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr14:39643311-39645153	K562	blood:	n/a	chr14:39644663-39644673
33	USF1	chr14:39643906-39644471	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr14:39643862-39645150	K562	blood:	n/a	n/a
35	HDAC2	chr14:39643902-39645193	MCF-7	breast:	n/a	n/a
36	POLR2A	chr14:39643219-39645163	Raji	blood:	n/a	n/a
37	POLR2A	chr14:39643132-39645483	GM12892	blood:	n/a	n/a
38	CEBPB	chr14:39643742-39644870	HCT-116	colon:	n/a	chr14:39644385-39644393 chr14:39644212-39644223 chr14:39644302-39644310
39	POLR2A	chr14:39643800-39643959	ProgFib	skin:	n/a	n/a
40	SP1	chr14:39643780-39645102	HCT-116	colon:	n/a	chr14:39644374-39644395 chr14:39644661-39644673 chr14:39644662-39644671 chr14:39644663-39644672 chr14:39644270-39644281 chr14:39644663-39644672 chr14:39644331-39644345 chr14:39644291-39644312
41	POLR2A	chr14:39643640-39645498	GM12892	blood:	n/a	n/a
42	CHD1	chr14:39643485-39645701	IMR90	lung:	n/a	chr14:39644663-39644673
43	POLR2A	chr14:39643737-39644791	K562	blood:	n/a	n/a
44	POLR2A	chr14:39643753-39644699	GM12878	blood:	n/a	n/a
45	ZBTB33	chr14:39643853-39644631	HCT-116	colon:	n/a	n/a
46	TAF1	chr14:39643463-39645263	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:39643741-39645327	HepG2	liver:	n/a	n/a
48	MAZ	chr14:39643838-39645269	K562	blood:	n/a	chr14:39644996-39645003
49	TAF1	chr14:39643871-39644735	Hela-S3	cervix:	n/a	n/a
50	YY1	chr14:39643867-39645387	HepG2	liver:	n/a	chr14:39644662-39644671 chr14:39644423-39644432 chr14:39644666-39644680 chr14:39644473-39644493 chr14:39644814-39644828

No.	Distal block	Cell Line	Cell type
1	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643409..39646477-chr14:39682252..39685201,4	MCF-7	breast:
4	chr14:39582047..39584964-chr14:39643383..39645099,4	K562	blood:
5	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
6	chr14:39618656..39622736-chr14:39641683..39644115,3	MCF-7	breast:
7	chr14:39643618..39644189-chr5:43121502..43122396,2	Hela-S3	cervix:
8	chr14:39582528..39584759-chr14:39643385..39645029,2	K562	blood:
9	chr10:32217178..32218897-chr14:39643343..39645172,2	MCF-7	breast:
10	chr14:39642562..39645375-chr14:39698449..39701112,2	MCF-7	breast:
11	chr14:39616786..39619391-chr14:39641245..39644143,2	MCF-7	breast:

Variant related genes	Relation type
TRAPPC6B	TF binding region
PNN	TF binding region
ENSG00000270503	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000258940	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1474875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1555260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092058	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108852	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108884	1.00[AMR][1000 genomes]
rs17108885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108891	1.00[AMR][1000 genomes]
rs17108905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41407745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59099504	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59671146	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59884790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60224924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60746390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170483	1.00[AMR][1000 genomes]
rs6571899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8007188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016435	0.97[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39640000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:39640600-39644000	Weak transcription	Small Intestine	intestine
3	chr14:39643200-39644000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:39643200-39644000	Flanking Active TSS	Dnd41	blood
5	chr14:39643200-39645000	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:39643200-39645200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:39643200-39645200	Active TSS	Brain Anterior Caudate	brain
8	chr14:39643200-39645200	Active TSS	Duodenum Mucosa	Duodenum
9	chr14:39643200-39645600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:39643200-39645600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:39643400-39644000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr14:39643400-39644000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr14:39643400-39644000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:39643400-39644000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:39643400-39644000	Flanking Active TSS	HepG2	liver
16	chr14:39643400-39644000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:39643400-39644200	Enhancers	Fetal Heart	heart
18	chr14:39643400-39645000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:39643400-39645200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:39643400-39645200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:39643400-39645200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:39643400-39645200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:39643400-39645200	Active TSS	Colon Smooth Muscle	Colon
24	chr14:39643400-39645200	Active TSS	HMEC	breast
25	chr14:39643400-39645200	Active TSS	Osteobl	bone
26	chr14:39643400-39645400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39643400-39645400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr14:39643400-39645600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:39643400-39645600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:39643400-39645600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:39643400-39645600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:39643400-39645600	Active TSS	Fetal Intestine Small	intestine
33	chr14:39643400-39645600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:39643400-39645800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:39643600-39644000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:39643600-39644000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:39643600-39644000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr14:39643600-39644000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr14:39643600-39644000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr14:39643600-39644000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr14:39643600-39644000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:39643600-39644000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr14:39643600-39644000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:39643600-39644000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:39643600-39644000	Flanking Active TSS	Fetal Brain Male	brain
46	chr14:39643600-39644000	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr14:39643600-39644200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr14:39643600-39644200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:39643600-39644400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:39643600-39644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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