Variant report

Variant	rs1886784
Chromosome Location	chr14:55658985-55658986
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	SIN3AK20	chr14:55657665-55659231	MCF-7	breast:	n/a	n/a
2	FOXA1	chr14:55658861-55659317	T-47D	breast:	n/a	n/a
3	EGR1	chr14:55657891-55658996	HCT-116	colon:	n/a	chr14:55658526-55658540 chr14:55658530-55658541 chr14:55658341-55658350 chr14:55658528-55658543 chr14:55658535-55658542
4	FOXA2	chr14:55658924-55659256	HepG2	liver:	n/a	n/a
5	NFYA	chr14:55657804-55659240	Hela-S3	cervix:	n/a	chr14:55658318-55658328 chr14:55658376-55658394
6	FOXA1	chr14:55658858-55659375	HepG2	liver:	n/a	n/a
7	NFYB	chr14:55657897-55659332	GM12878	blood:	n/a	chr14:55658318-55658328 chr14:55658382-55658397 chr14:55659116-55659131
8	FOXA1	chr14:55658943-55659226	T-47D	breast:	n/a	n/a
9	FOXA1	chr14:55658963-55659275	HepG2	liver:	n/a	n/a
10	E2F4	chr14:55656541-55659044	MCF10A-Er-Src	breast:	n/a	chr14:55658585-55658592 chr14:55658098-55658108 chr14:55658404-55658413 chr14:55658585-55658592 chr14:55658585-55658592
11	SETDB1	chr14:55658219-55659052	U2OS	brain:	n/a	n/a
12	MXI1	chr14:55657636-55659573	SK-N-SH	brain:	n/a	chr14:55657882-55657897
13	FOXA1	chr14:55658911-55659247	HepG2	liver:	n/a	n/a
14	MTA3	chr14:55657749-55659109	GM12878	blood:	n/a	n/a
15	NFYB	chr14:55658943-55659291	K562	blood:	n/a	chr14:55659116-55659131
16	FOXA2	chr14:55658887-55659355	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
2	chr14:55658532..55660880-chr14:55663249..55664893,2	MCF-7	breast:

Variant related genes	Relation type
DLGAP5	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10130894	1.00[CHB][hapmap]
rs10144869	0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs10146943	1.00[CHB][hapmap]
rs10220441	0.86[MEX][hapmap]
rs10483640	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10498474	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11845802	0.83[EUR][1000 genomes]
rs11850516	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11851023	0.85[ASN][1000 genomes]
rs11851945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323804	0.85[ASN][1000 genomes]
rs13379420	0.82[ASN][1000 genomes]
rs17128159	0.81[GIH][hapmap]
rs17128230	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128262	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128275	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128277	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128292	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128303	0.87[ASW][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs17128323	0.85[ASN][1000 genomes]
rs17128370	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs17128434	1.00[CHB][hapmap]
rs17128438	0.86[MEX][hapmap]
rs1887494	1.00[ASN][1000 genomes]
rs2075598	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274272	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28408795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28436894	0.90[ASN][1000 genomes]
rs28681113	0.90[ASN][1000 genomes]
rs28883964	0.85[ASN][1000 genomes]
rs2985914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759666	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334208	0.82[ASN][1000 genomes]
rs55673612	0.87[ASN][1000 genomes]
rs55772085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55848305	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55912862	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56192604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56358335	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57064758	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57196783	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57612384	0.85[ASN][1000 genomes]
rs57750925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58737648	0.90[ASN][1000 genomes]
rs59155162	0.85[ASN][1000 genomes]
rs59700273	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60023093	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60204830	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60715972	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7141563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142831	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7145502	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7147172	0.85[ASN][1000 genomes]
rs7147666	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148663	1.00[CHB][hapmap]
rs7148957	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148959	0.83[EUR][1000 genomes]
rs7149385	0.90[ASN][1000 genomes]
rs7150083	0.90[ASN][1000 genomes]
rs7152543	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7153322	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7153418	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153651	0.82[YRI][hapmap]
rs7153958	0.85[ASN][1000 genomes]
rs7154368	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155704	0.85[ASN][1000 genomes]
rs7155729	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7155936	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156997	0.90[ASN][1000 genomes]
rs7157000	0.90[ASN][1000 genomes]
rs7157585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158989	0.82[ASN][1000 genomes]
rs7159530	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160411	0.82[CHD][hapmap]
rs7160575	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7160642	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7160753	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7161502	0.81[AFR][1000 genomes]
rs7161564	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs72716670	0.90[ASN][1000 genomes]
rs74050920	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74050921	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74050928	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74050932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74050937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74050958	0.85[ASN][1000 genomes]
rs8004899	0.90[ASN][1000 genomes]
rs8005218	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007038	1.00[CHB][hapmap]
rs8009009	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009181	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs8010751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010993	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8011980	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8012397	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs8016444	0.85[ASN][1000 genomes]
rs8016716	1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs8017821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021832	0.84[ASN][1000 genomes]
rs8022101	0.87[ASN][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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55656000-55659000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:55656200-55659000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:55656200-55659200	Active TSS	NHDF-Ad	bronchial
4	chr14:55656400-55659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:55656400-55659000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:55656600-55659000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:55656600-55659000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:55656600-55659200	Active TSS	HSMM	muscle
9	chr14:55656600-55659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:55656800-55659000	Active TSS	NHLF	lung
11	chr14:55657000-55659000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55657000-55659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:55657000-55659000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:55657000-55659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55657000-55659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:55657000-55659000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:55657000-55659000	Active TSS	GM12878-XiMat	blood
18	chr14:55657000-55659000	Active TSS	K562	blood
19	chr14:55657000-55659200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:55657000-55659200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr14:55657000-55659200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:55657000-55659200	Active TSS	Hela-S3	cervix
23	chr14:55657000-55659400	Active TSS	A549	lung
24	chr14:55657200-55659000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:55657200-55659400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:55657400-55659000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:55657400-55659000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr14:55657400-55659000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:55657400-55659000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55657400-55659000	Active TSS	Fetal Brain Male	brain
31	chr14:55657400-55659000	Active TSS	Fetal Intestine Small	intestine
32	chr14:55657400-55659200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:55657600-55659000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr14:55657600-55659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:55657600-55659000	Active TSS	Colonic Mucosa	Colon
36	chr14:55657600-55659000	Active TSS	Esophagus	oesophagus
37	chr14:55657600-55659000	Bivalent/Poised TSS	HepG2	liver
38	chr14:55657600-55659000	Active TSS	HSMMtube	muscle
39	chr14:55657600-55659400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:55657800-55659000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr14:55657800-55659000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:55657800-55659000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr14:55657800-55659000	Active TSS	Psoas Muscle	Psoas
44	chr14:55657800-55659000	Active TSS	Rectal Smooth Muscle	rectum
45	chr14:55657800-55659000	Active TSS	Right Atrium	heart
46	chr14:55657800-55659000	Active TSS	Right Ventricle	heart
47	chr14:55657800-55659000	Active TSS	NH-A	brain
48	chr14:55657800-55659400	Active TSS	Fetal Lung	lung
49	chr14:55658000-55659000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:55658000-55659000	Active TSS	Brain Substantia Nigra	brain

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