Variant report

Variant	rs57064758
Chromosome Location	chr14:55594655-55594656
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr14:55593960-55594774	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr14:55593810-55594726	Hela-S3	cervix:	n/a	chr14:55594520-55594534 chr14:55594521-55594537 chr14:55594522-55594536 chr14:55594523-55594532
3	POLR2A	chr14:55594211-55594728	U87	brain:	n/a	n/a
4	GTF2F1	chr14:55593871-55594664	Hela-S3	cervix:	n/a	n/a
5	TFAP2C	chr14:55593813-55594783	Hela-S3	cervix:	n/a	n/a
6	FOS	chr14:55594002-55594751	Hela-S3	cervix:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
7	EP300	chr14:55593847-55594808	Hela-S3	cervix:	n/a	n/a
8	ZKSCAN1	chr14:55594380-55594702	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr14:55594203-55594772	Hela-S3	cervix:	n/a	n/a
10	MAX	chr14:55594208-55594738	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:55593722-55594748	Hela-S3	cervix:	n/a	chr14:55594555-55594568
12	MAX	chr14:55593851-55594696	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr14:55593727-55594707	Hela-S3	cervix:	n/a	n/a
14	TFAP2A	chr14:55594083-55594774	Hela-S3	cervix:	n/a	n/a
15	MYC	chr14:55593897-55594694	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr14:55593861-55594672	Hela-S3	cervix:	n/a	n/a
17	PBX3	chr14:55594147-55594715	SK-N-SH	brain:	n/a	n/a
18	BRCA1	chr14:55593895-55594916	Hela-S3	cervix:	n/a	n/a
19	PRDM1	chr14:55594167-55594730	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr14:55594029-55594716	SK-N-SH	brain:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
21	MAFK	chr14:55593841-55594704	Hela-S3	cervix:	n/a	n/a
22	JUND	chr14:55593806-55594747	Hela-S3	cervix:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
23	RAD21	chr14:55593783-55594661	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr14:55593892-55594701	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr14:55593889-55594761	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:55594219-55594728	U87	brain:	n/a	n/a
27	CTCF	chr14:55594560-55594710	Caco-2	colon:	n/a	n/a
28	SMC3	chr14:55593799-55594711	Hela-S3	cervix:	n/a	n/a
29	TCF12	chr14:55594058-55594752	SK-N-SH	brain:	n/a	n/a
30	PBX3	chr14:55594090-55594735	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55594613-55594663	HIPEpiC	eye:	n/a
2	chr14:55594613-55594663	PrEC	prostate:	n/a
3	chr14:55594613-55594663	SAEC	small airway:	n/a
4	chr14:55594613-55594663	NT2-D1	testis:	n/a
5	chr14:55594613-55594663	HMEC	breast:	n/a
6	chr14:55594613-55594663	K562	blood:	n/a
7	chr14:55594613-55594663	BJ	skin:	n/a
8	chr14:55594613-55594663	Caco-2	colon:	n/a
9	chr14:55594613-55594663	HRE	kidney:	n/a
10	chr14:55594613-55594663	MCF-7	breast:	n/a
11	chr14:55594613-55594663	HepG2	liver:	n/a
12	chr14:55594613-55594663	AG04450	lung:	fetal
13	chr14:55594613-55594663	GM12892	blood:	n/a
14	chr14:55594613-55594663	HEK293	kidney:	embryo
15	chr14:55594613-55594663	SK-N-MC	brain:	n/a
16	chr14:55594613-55594663	Jurkat	blood:	n/a
17	chr14:55594613-55594663	SK-N-SH	brain:	n/a
18	chr14:55594613-55594663	AG04449	skin:	fetal
19	chr14:55594613-55594663	U87	brain:	n/a
20	chr14:55594613-55594663	NHBE	bronchial:	n/a
21	chr14:55594613-55594663	BE2_C	brain:	n/a
22	chr14:55594613-55594663	T-47D	breast:	n/a
23	chr14:55594613-55594663	HL-60	blood:	n/a
24	chr14:55594613-55594663	HCF	heart:	n/a
25	chr14:55594613-55594663	HUVEC	blood vessel:	n/a
26	chr14:55594613-55594663	IMR90	lung:	fetal
27	chr14:55594613-55594663	GM19239	blood:	n/a
28	chr14:55594613-55594663	ECC-1	luminal epithelium:	n/a
29	chr14:55594613-55594663	ovcar-3	ovarian:	n/a
30	chr14:55594613-55594663	HCT-116	colon:	n/a
31	chr14:55594613-55594663	AG10803	skin:	n/a
32	chr14:55594613-55594663	RPTEC	kidney:	n/a
33	chr14:55594613-55594663	HCM	heart:	n/a
34	chr14:55594613-55594663	HCPEpiC	choroid plexus:	n/a
35	chr14:55594613-55594663	HNPCEpiC	eye:	n/a
36	chr14:55594613-55594663	PANC-1	pancreas:	n/a
37	chr14:55594613-55594663	SKMC	muscle:	n/a
38	chr14:55594613-55594663	GM06990	blood:	n/a
39	chr14:55594613-55594663	PFSK-1	brain:	n/a
40	chr14:55594613-55594663	GM12878	blood:	n/a
41	chr14:55594613-55594663	HAEpiC	amniotic membrane:	n/a
42	chr14:55594613-55594663	AoSMC	blood vessel:	n/a
43	chr14:55594613-55594663	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:55594613-55594663	GM12891	blood:	n/a
45	chr14:55594613-55594663	A549	lung:	n/a
46	chr14:55594613-55594663	Hela-S3	cervix:	n/a
47	chr14:55594613-55594663	ProgFib	skin:	n/a
48	chr14:55594613-55594663	HRCEpiC	kidney:	n/a
49	chr14:55594613-55594663	Hepatocyte	liver:	n/a
50	chr14:55594613-55594663	HEEpiC	esophagus:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
4	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
5	chr14:55594568..55597255-chr20:45984392..45987223,2	MCF-7	breast:

No data

Variant related genes	Relation type
LGALS3	TF binding region
LGALS3	CpG island
ENSG00000131979	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10144869	0.85[ASN][1000 genomes]
rs10483640	0.85[ASN][1000 genomes]
rs10498474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850516	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851023	0.85[ASN][1000 genomes]
rs11851945	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12323804	0.85[ASN][1000 genomes]
rs13379420	0.82[ASN][1000 genomes]
rs17128230	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128262	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128275	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128277	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128292	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128303	0.85[ASN][1000 genomes]
rs17128323	0.85[ASN][1000 genomes]
rs1886784	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1887494	0.93[ASN][1000 genomes]
rs2075598	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408795	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28436894	0.97[ASN][1000 genomes]
rs28681113	0.97[ASN][1000 genomes]
rs28883964	0.85[ASN][1000 genomes]
rs2985914	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759666	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4334208	0.82[ASN][1000 genomes]
rs55673612	0.94[ASN][1000 genomes]
rs55772085	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55912862	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56192604	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56358335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57196783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57612384	0.85[ASN][1000 genomes]
rs57750925	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58737648	0.90[ASN][1000 genomes]
rs59155162	0.85[ASN][1000 genomes]
rs59700273	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60023093	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60204830	0.85[ASN][1000 genomes]
rs60715972	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573004	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141563	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7142831	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7145502	0.85[ASN][1000 genomes]
rs7147172	0.85[ASN][1000 genomes]
rs7147666	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148957	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148959	0.83[EUR][1000 genomes]
rs7149385	0.97[ASN][1000 genomes]
rs7150083	0.97[ASN][1000 genomes]
rs7152543	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153322	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153418	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153958	0.85[ASN][1000 genomes]
rs7154368	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155704	0.85[ASN][1000 genomes]
rs7155729	0.85[ASN][1000 genomes]
rs7155936	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156997	0.97[ASN][1000 genomes]
rs7157000	0.97[ASN][1000 genomes]
rs7157585	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158989	0.88[ASN][1000 genomes]
rs7159530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160575	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7160642	0.85[ASN][1000 genomes]
rs7160753	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7161564	0.97[ASN][1000 genomes]
rs72716670	0.97[ASN][1000 genomes]
rs74050920	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74050921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050928	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050932	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74050937	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74050939	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74050958	0.85[ASN][1000 genomes]
rs8004899	0.97[ASN][1000 genomes]
rs8005218	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009009	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009060	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009181	0.97[ASN][1000 genomes]
rs8010751	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010791	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010993	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8011980	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012397	0.83[ASN][1000 genomes]
rs8016444	0.85[ASN][1000 genomes]
rs8016716	0.85[ASN][1000 genomes]
rs8017821	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021832	0.90[ASN][1000 genomes]
rs8022101	0.94[ASN][1000 genomes]

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
3	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:55587000-55595600	Enhancers	Stomach Mucosa	stomach
5	chr14:55587600-55595600	Enhancers	Fetal Heart	heart
6	chr14:55589800-55595600	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:55590000-55595400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:55590000-55595600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:55590000-55595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:55590200-55595800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:55590400-55595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:55590400-55595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:55590800-55596200	Weak transcription	Fetal Lung	lung
14	chr14:55591600-55595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:55591600-55595400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:55591600-55595600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:55591800-55595000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:55592400-55595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:55592400-55595600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:55592400-55595600	Weak transcription	K562	blood
21	chr14:55592600-55595400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:55592600-55595600	Weak transcription	Placenta	Placenta
23	chr14:55592600-55595600	Weak transcription	Gastric	stomach
24	chr14:55592600-55595800	Weak transcription	Spleen	Spleen
25	chr14:55592800-55595000	Weak transcription	Right Ventricle	heart
26	chr14:55592800-55595200	Weak transcription	Lung	lung
27	chr14:55592800-55595600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:55593000-55595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:55593000-55595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:55593000-55595600	Weak transcription	Esophagus	oesophagus
31	chr14:55593000-55596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:55593200-55595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:55593200-55595600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:55593200-55595600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:55593200-55595600	Weak transcription	Colonic Mucosa	Colon
36	chr14:55593200-55595600	Weak transcription	Small Intestine	intestine
37	chr14:55593200-55597800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:55593600-55595000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:55593600-55595400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:55593600-55595600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:55593600-55595600	Weak transcription	Ovary	ovary
42	chr14:55593600-55595600	Weak transcription	Right Atrium	heart
43	chr14:55593600-55595600	Enhancers	Osteobl	bone
44	chr14:55593800-55595200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55593800-55595400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:55593800-55595400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:55593800-55595400	Enhancers	HMEC	breast
48	chr14:55593800-55595400	Enhancers	NHEK	skin
49	chr14:55594000-55594800	Active TSS	Duodenum Mucosa	Duodenum
50	chr14:55594000-55594800	Enhancers	NH-A	brain

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