Variant report

Variant	rs72664833
Chromosome Location	chr14:35590452-35590453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP2	chr14:35590442-35592135	HepG2	liver:	n/a	n/a
2	MYBL2	chr14:35590302-35592745	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:35590240-35592733	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF1	chr14:35590349-35592300	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr14:35590273-35590661	GM12878	blood:	n/a	n/a
6	MXI1	chr14:35590348-35592491	IMR90	lung:	n/a	chr14:35591496-35591505
7	POLR2A	chr14:35590291-35592405	MCF-7	breast:	n/a	n/a
8	HA-E2F1	chr14:35590233-35592072	MCF-7	breast:	n/a	chr14:35591481-35591488 chr14:35591481-35591489 chr14:35591485-35591494 chr14:35591481-35591489
9	MBD4	chr14:35590430-35592397	HepG2	liver:	n/a	n/a
10	TBP	chr14:35590215-35592338	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr14:35590324-35592279	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:35590396-35590594	GM12878	blood:	n/a	n/a
13	GTF3C2	chr14:35590144-35590896	Hela-S3	cervix:	n/a	n/a
14	FOS	chr14:35590248-35590485	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr14:35590105-35592819	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr14:35590060-35592253	Hela-S3	cervix:	n/a	n/a
17	FOS	chr14:35590289-35590455	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:35590408-35590598	MCF-7	breast:	n/a	n/a
19	CEBPB	chr14:35590040-35590469	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:35590445-35590459	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:35590292-35592337	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr14:35590416-35592253	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:35590421-35590574	A549	lung:	n/a	n/a
24	TAF1	chr14:35590417-35590636	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr14:35590363-35592426	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:35590398-35590677	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr14:35590412-35590684	Hela-S3	cervix:	n/a	n/a
28	SIN3AK20	chr14:35590267-35592753	MCF-7	breast:	n/a	n/a
29	MYBL2	chr14:35590348-35592882	HepG2	liver:	n/a	n/a
30	PML	chr14:35590414-35592435	GM12878	blood:	n/a	n/a
31	JUND	chr14:35590180-35590495	K562	blood:	n/a	n/a
32	POLR2A	chr14:35590447-35592077	HEK293	kidney:	n/a	n/a
33	POLR2A	chr14:35590412-35592296	IMR90	lung:	n/a	n/a
34	TCF12	chr14:35590388-35592362	A549	lung:	n/a	n/a
35	HCFC1	chr14:35589880-35593328	Hela-S3	cervix:	n/a	n/a
36	FOS	chr14:35590256-35590489	MCF10A-Er-Src	breast:	n/a	n/a
37	GABPA	chr14:35590437-35592490	MCF-7	breast:	n/a	chr14:35591484-35591495 chr14:35591484-35591498 chr14:35591486-35591495 chr14:35591004-35591011
38	YY1	chr14:35590142-35592380	SK-N-SH	brain:	n/a	chr14:35591676-35591690 chr14:35591276-35591298 chr14:35591728-35591739
39	POLR2A	chr14:35590337-35590630	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:35589863-35592461	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr14:35590396-35592761	HepG2	liver:	n/a	n/a
42	MTA3	chr14:35590441-35592363	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:35590293-35590612	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:35590360-35590707	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr14:35590440-35590563	MCF-7	breast:	n/a	n/a
46	TAF1	chr14:35590349-35590679	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:35590275-35592292	GM12892	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35342738..35344659-chr14:35589687..35591484,2	K562	blood:
2	chr14:35450245..35452169-chr14:35590215..35593362,3	MCF-7	breast:
3	chr14:35514347..35518167-chr14:35589018..35591815,3	K562	blood:
4	chr14:35568810..35572401-chr14:35587846..35592624,4	MCF-7	breast:
5	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
6	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
7	chr14:35589196..35594400-chr14:35871301..35877730,13	MCF-7	breast:
8	chr14:35513731..35517214-chr14:35589119..35593617,5	MCF-7	breast:
9	chr14:35450906..35453739-chr14:35588377..35591005,2	K562	blood:
10	chr14:35589240..35593864-chr14:35869008..35876501,20	MCF-7	breast:
11	chr14:35519480..35523190-chr14:35588742..35592990,5	MCF-7	breast:
12	chr14:35514347..35516079-chr14:35590063..35591815,2	K562	blood:
13	chr14:35512802..35518057-chr14:35589980..35593805,9	MCF-7	breast:

No data

Variant related genes	Relation type
KIAA0391	TF binding region
ENSG00000258790	TF binding region
ENSG00000151327	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10140974	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12878409	0.86[EUR][1000 genomes]
rs12879990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884879	0.86[EUR][1000 genomes]
rs28498415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891299	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34345349	0.86[EUR][1000 genomes]
rs34349910	1.00[EUR][1000 genomes]
rs34380272	0.86[EUR][1000 genomes]
rs34482760	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279146	0.81[EUR][1000 genomes]
rs35447952	0.86[EUR][1000 genomes]
rs55775137	0.86[EUR][1000 genomes]
rs55831988	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55994324	0.86[EUR][1000 genomes]
rs56228866	0.86[EUR][1000 genomes]
rs71421928	0.86[EUR][1000 genomes]
rs72680647	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
15	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
20	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
22	nsv542035	chr14:35563220-35607117	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv1047992	chr14:35563220-35639084	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
25	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
26	nsv1053978	chr14:35571762-35639084	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv534182	chr14:35579022-35620232	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr14:35580800-35590600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:35589400-35593000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:35589800-35590600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:35589800-35592200	Active TSS	Stomach Smooth Muscle	stomach
5	chr14:35589800-35592600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:35589800-35592600	Active TSS	Fetal Brain Female	brain
7	chr14:35589800-35593200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:35589800-35595000	Active TSS	K562	blood
9	chr14:35590000-35590600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr14:35590000-35590600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:35590000-35590800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:35590000-35590800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr14:35590000-35591000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:35590000-35592400	Active TSS	Ovary	ovary
15	chr14:35590000-35592400	Active TSS	Right Ventricle	heart
16	chr14:35590000-35592400	Active TSS	NHLF	lung
17	chr14:35590000-35592600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:35590000-35592800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:35590000-35592800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:35590000-35592800	Active TSS	A549	lung
21	chr14:35590000-35593000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr14:35590000-35593000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:35590200-35590600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr14:35590200-35590600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr14:35590200-35590600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:35590200-35590600	Enhancers	Fetal Brain Male	brain
27	chr14:35590200-35590600	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr14:35590200-35590600	Flanking Active TSS	Dnd41	blood
29	chr14:35590200-35590600	Flanking Active TSS	HepG2	liver
30	chr14:35590200-35590800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:35590200-35590800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr14:35590200-35590800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr14:35590200-35590800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:35590200-35590800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr14:35590200-35590800	Active TSS	Brain Germinal Matrix	brain
36	chr14:35590200-35591000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr14:35590200-35591000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr14:35590200-35591000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr14:35590200-35591000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr14:35590200-35592000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:35590200-35592200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:35590200-35592200	Active TSS	Brain Angular Gyrus	brain
43	chr14:35590200-35592200	Active TSS	Brain Cingulate Gyrus	brain
44	chr14:35590200-35592200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:35590200-35592200	Active TSS	HMEC	breast
46	chr14:35590200-35592200	Active TSS	HUVEC	blood vessel
47	chr14:35590200-35592200	Active TSS	NH-A	brain
48	chr14:35590200-35592400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:35590200-35592400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:35590200-35592400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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