Variant report

Variant	rs11538255
Chromosome Location	chr14:24911452-24911453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr14:24911369-24911655	K562	blood:	n/a	n/a
2	USF1	chr14:24911266-24911855	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:24903461-24912546	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:24911115-24912468	H1-hESC	embryonic stem cell:	n/a	n/a
5	RELA	chr14:24911306-24912339	GM19099	blood:	n/a	n/a
6	ATF2	chr14:24911370-24912110	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr14:24911335-24911676	K562	blood:	n/a	n/a
8	GABPA	chr14:24911063-24912610	MCF-7	breast:	n/a	chr14:24911992-24912003 chr14:24911992-24912006 chr14:24912044-24912058 chr14:24912047-24912058
9	ELF1	chr14:24911192-24912471	HepG2	liver:	n/a	chr14:24911886-24911895 chr14:24911887-24911896
10	POLR2A	chr14:24911190-24912367	HepG2	liver:	n/a	n/a
11	PBX3	chr14:24911216-24912257	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr14:24911149-24912453	HUVEC	blood vessel:	n/a	n/a
13	TBP	chr14:24911389-24912665	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:24911139-24912669	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:24911084-24912401	SK-N-SH	brain:	n/a	n/a
16	SIN3A	chr14:24911189-24912481	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:24910478-24912449	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr14:24911340-24911490	HepG2	liver:	n/a	n/a
19	JUND	chr14:24911070-24912454	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:24905485-24912569	HUVEC	blood vessel:	n/a	n/a
21	ZKSCAN1	chr14:24911374-24912236	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:24911268-24912106	A549	lung:	n/a	n/a
23	HMGN3	chr14:24911325-24911684	K562	blood:	n/a	n/a
24	POLR2A	chr14:24910801-24912429	U87	brain:	n/a	n/a
25	CHD2	chr14:24911347-24912300	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24911149-24912400	K562	blood:	n/a	n/a
27	POLR2A	chr14:24905933-24912504	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:24911360-24911510	AG04449	skin:	n/a	n/a
29	YY1	chr14:24911124-24912401	HepG2	liver:	n/a	chr14:24911497-24911511
30	RELA	chr14:24911284-24912434	GM10847	blood:	n/a	n/a
31	YY1	chr14:24911419-24912373	SK-N-SH_RA	brain:	n/a	chr14:24911497-24911511
32	JUND	chr14:24911161-24911854	A549	lung:	n/a	n/a
33	HEY1	chr14:24911399-24912457	K562	blood:	n/a	n/a
34	MAX	chr14:24911264-24912345	NB4	blood:	n/a	n/a
35	MYC	chr14:24911326-24912166	MCF-7	breast:	n/a	n/a
36	MYC	chr14:24911255-24912392	NB4	blood:	n/a	n/a
37	TAF1	chr14:24911398-24911613	K562	blood:	n/a	n/a
38	MAX	chr14:24910938-24912435	HCT-116	colon:	n/a	n/a
39	MAX	chr14:24911359-24912267	HUVEC	blood vessel:	n/a	n/a
40	ELF1	chr14:24911246-24912305	GM12878	blood:	n/a	chr14:24911886-24911895 chr14:24911887-24911896
41	POLR2A	chr14:24911235-24912445	GM12878	blood:	n/a	n/a
42	SMC3	chr14:24911396-24912269	Hela-S3	cervix:	n/a	n/a
43	MAX	chr14:24911192-24912352	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr14:24911044-24912459	PFSK-1	brain:	n/a	n/a
45	USF1	chr14:24911153-24912428	A549	lung:	n/a	n/a
46	SIN3AK20	chr14:24911183-24912612	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:24911091-24912283	Gliobla	brain:	n/a	n/a
48	USF1	chr14:24911132-24912420	HCT-116	colon:	n/a	n/a
49	CTCF	chr14:24911400-24911550	GM12866	blood:	n/a	n/a
50	USF1	chr14:24911336-24911845	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24911390..24911912-chr18:3447089..3447840,2	Hela-S3	cervix:
2	chr14:24911126..24911967-chr19:17829461..17830386,2	Hela-S3	cervix:
3	chr14:24911320..24912101-chr6:24720852..24721499,2	Hela-S3	cervix:
4	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
5	chr12:7053057..7053838-chr14:24911391..24912053,2	Hela-S3	cervix:
6	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
7	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
8	chr11:57435097..57435828-chr14:24911287..24912136,2	Hela-S3	cervix:
9	chr14:24562331..24564529-chr14:24910345..24912043,2	K562	blood:
10	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
11	chr14:24911102..24911676-chr2:101924903..101925680,2	Hela-S3	cervix:
12	chr14:24911283..24912112-chr6:26123642..26124468,2	Hela-S3	cervix:
13	chr14:24898746..24899612-chr14:24911431..24912345,3	Hela-S3	cervix:
14	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
15	chr14:24796552..24799266-chr14:24908909..24911628,3	K562	blood:
16	chr14:24910782..24911552-chr4:71858996..71859672,2	Hela-S3	cervix:
17	chr14:24698279..24701346-chr14:24909291..24912292,3	MCF-7	breast:
18	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
19	chr14:24909605..24912144-chr17:56736218..56737898,2	MCF-7	breast:
20	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
21	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
22	chr1:28907885..28908389-chr14:24911165..24911955,2	Hela-S3	cervix:
23	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
24	chr14:24911438..24912197-chr19:50379665..50380613,2	Hela-S3	cervix:
25	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
26	chr12:49524736..49525428-chr14:24911238..24912051,2	Hela-S3	cervix:
27	chr14:24911211..24912178-chr19:13875300..13875832,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SDR39U1	TF binding region
ENSG00000129467	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000204673	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000037757	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000156136	Chromatin interaction
ENSG00000163162	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000130479	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000177426	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10083368	0.99[ASN][1000 genomes]
rs10083369	0.99[ASN][1000 genomes]
rs10083379	0.99[ASN][1000 genomes]
rs10083382	0.99[ASN][1000 genomes]
rs10083509	0.99[ASN][1000 genomes]
rs10129168	1.00[ASN][1000 genomes]
rs10129753	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133116	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133998	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140911	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144287	1.00[ASN][1000 genomes]
rs10146995	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11538256	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103735	1.00[ASN][1000 genomes]
rs17103743	1.00[ASN][1000 genomes]
rs17103869	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17103960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104012	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742521	1.00[ASN][1000 genomes]
rs3742522	1.00[ASN][1000 genomes]
rs3814810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953421	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57120899	0.84[ASN][1000 genomes]
rs57259303	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59448251	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60777821	0.84[ASN][1000 genomes]
rs7142374	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157349	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73593291	1.00[ASN][1000 genomes]
rs73593299	1.00[ASN][1000 genomes]
rs737245	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737246	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737247	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323503	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	nsv482171	chr14:24908974-24912007	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	40 gene(s)	inside rSNPs	n/a
5	nsv564061	chr14:24911138-24945331	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24910600-24913000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:24910800-24911600	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr14:24910800-24911600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr14:24910800-24911800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:24910800-24912800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:24910800-24913000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:24910800-24913000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:24910800-24913000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr14:24910800-24913200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:24911000-24911600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:24911000-24911600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr14:24911000-24911600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:24911000-24911600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:24911000-24911600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:24911000-24911600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr14:24911000-24911600	Flanking Active TSS	Fetal Thymus	thymus
17	chr14:24911000-24911600	Active TSS	Right Atrium	heart
18	chr14:24911000-24911800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr14:24911000-24911800	Flanking Active TSS	Placenta	Placenta
20	chr14:24911000-24912000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:24911000-24912000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:24911000-24912000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr14:24911000-24912200	Active TSS	Fetal Brain Female	brain
24	chr14:24911000-24912800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:24911000-24912800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:24911000-24912800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:24911000-24912800	Active TSS	Aorta	Aorta
28	chr14:24911000-24912800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr14:24911000-24913000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:24911000-24913000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr14:24911000-24913000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:24911000-24913000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:24911000-24913000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:24911000-24913000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:24911000-24913000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:24911000-24913000	Active TSS	Psoas Muscle	Psoas
37	chr14:24911000-24913000	Active TSS	A549	lung
38	chr14:24911000-24913000	Active TSS	NHLF	lung
39	chr14:24911000-24913200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:24911000-24913200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr14:24911000-24913200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:24911200-24911600	Active TSS	Brain Germinal Matrix	brain
43	chr14:24911200-24912000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:24911200-24912200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:24911200-24912600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:24911200-24912600	Active TSS	Fetal Brain Male	brain
47	chr14:24911200-24912600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr14:24911200-24912600	Active TSS	Ovary	ovary
49	chr14:24911200-24912600	Active TSS	NH-A	brain
50	chr14:24911200-24912600	Active TSS	Osteobl	bone

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