Variant report

Variant	rs74050937
Chromosome Location	chr14:55659291-55659292
allele	C/T
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	FOXA1	chr14:55658861-55659317	T-47D	breast:	n/a	n/a
2	FOXA1	chr14:55658858-55659375	HepG2	liver:	n/a	n/a
3	NFYB	chr14:55657897-55659332	GM12878	blood:	n/a	chr14:55658318-55658328 chr14:55658382-55658397 chr14:55659116-55659131
4	MXI1	chr14:55657636-55659573	SK-N-SH	brain:	n/a	chr14:55657882-55657897
5	NFYB	chr14:55658943-55659291	K562	blood:	n/a	chr14:55659116-55659131
6	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
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10144869	0.85[ASN][1000 genomes]
rs10483640	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10498474	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]
rs17128230	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128262	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128303	0.85[ASN][1000 genomes]
rs17128323	0.85[ASN][1000 genomes]
rs1886784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887494	1.00[ASN][1000 genomes]
rs2075598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274272	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[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	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]
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]
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[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]
rs7160575	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	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]
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]
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	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]
rs8016444	0.85[ASN][1000 genomes]
rs8016716	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55656600-55659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:55657000-55659400	Active TSS	A549	lung
3	chr14:55657200-55659400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:55657600-55659400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:55657800-55659400	Active TSS	Fetal Lung	lung
6	chr14:55658600-55659400	Flanking Active TSS	Dnd41	blood
7	chr14:55658800-55659400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr14:55658800-55660800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:55658800-55662200	Weak transcription	Aorta	Aorta
10	chr14:55658800-55662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:55659000-55659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:55659000-55659400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:55659000-55659400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:55659000-55660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:55659000-55661400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:55659000-55661400	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:55659000-55661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:55659000-55661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:55659000-55661800	Weak transcription	HSMMtube	muscle
20	chr14:55659000-55662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:55659000-55662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:55659000-55663200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:55659200-55659400	Enhancers	NHDF-Ad	bronchial
24	chr14:55659200-55659800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr14:55659200-55660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:55659200-55662000	Weak transcription	HepG2	liver
27	chr14:55659200-55662200	Weak transcription	Brain Germinal Matrix	brain
28	chr14:55659200-55668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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