Variant report

Variant	rs2781375
Chromosome Location	chr14:65569597-65569598
allele	A/G
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	MXI1	chr14:65568850-65570074	K562	blood:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
2	MAFK	chr14:65569174-65569805	K562	blood:	n/a	n/a
3	REST	chr14:65568385-65570032	H1-neurons	neurons:	n/a	chr14:65568968-65568977 chr14:65568968-65568981
4	POLR2A	chr14:65569480-65569767	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr14:65569495-65569726	SK-N-SH	brain:	n/a	n/a
6	JUND	chr14:65568904-65569949	K562	blood:	n/a	n/a
7	SP1	chr14:65568933-65569931	A549	lung:	n/a	n/a
8	CTBP2	chr14:65569140-65569991	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:65569500-65569650	HCFaa	heart:	n/a	n/a
10	RCOR1	chr14:65569063-65570066	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:65568813-65569890	Hela-S3	cervix:	n/a	n/a
12	USF1	chr14:65568866-65570036	HCT-116	colon:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
13	RELA	chr14:65569120-65569689	GM19099	blood:	n/a	n/a
14	CBX3	chr14:65569428-65569894	K562	blood:	n/a	n/a
15	POLR2A	chr14:65568814-65569994	GM15510	blood:	n/a	n/a
16	POLR2A	chr14:65568911-65570082	GM12891	blood:	n/a	n/a
17	BHLHE40	chr14:65568987-65570465	HepG2	liver:	n/a	chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
18	NFIC	chr14:65568998-65569936	GM12878	blood:	n/a	n/a
19	USF1	chr14:65568883-65569795	K562	blood:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569277-65569290 chr14:65569575-65569586 chr14:65569278-65569289
20	TBP	chr14:65569044-65569786	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr14:65569525-65569716	Hela-S3	cervix:	n/a	n/a
22	USF1	chr14:65569017-65569703	GM12878	blood:	n/a	chr14:65569277-65569290 chr14:65569575-65569586 chr14:65569278-65569289
23	YY1	chr14:65569449-65569831	K562	blood:	n/a	n/a
24	POLR2A	chr14:65568914-65569729	GM12878	blood:	n/a	n/a
25	BHLHE40	chr14:65568903-65570513	GM12878	blood:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
26	MAX	chr14:65569462-65570106	K562	blood:	n/a	chr14:65569978-65569987
27	STAT1	chr14:65569167-65569883	GM12878	blood:	n/a	n/a
28	STAT5A	chr14:65569463-65570438	GM12878	blood:	n/a	n/a
29	ETS1	chr14:65568940-65569777	GM12878	blood:	n/a	chr14:65569364-65569377 chr14:65569312-65569325 chr14:65569499-65569512
30	TAF1	chr14:65568792-65569966	HepG2	liver:	n/a	n/a
31	SIX5	chr14:65569099-65569760	H1-hESC	embryonic stem cell:	n/a	chr14:65569499-65569508 chr14:65569315-65569324 chr14:65569365-65569374 chr14:65569362-65569371 chr14:65569367-65569376 chr14:65569363-65569377
32	POLR2A	chr14:65568955-65569935	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr14:65569011-65570076	H1-hESC	embryonic stem cell:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
34	GTF2F1	chr14:65569522-65569618	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr14:65569001-65570025	GM12892	blood:	n/a	chr14:65569304-65569315
36	ELF1	chr14:65568308-65570086	GM12878	blood:	n/a	chr14:65569543-65569555 chr14:65569370-65569383 chr14:65569630-65569642
37	USF2	chr14:65569111-65569713	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569277-65569290
38	MYC	chr14:65568491-65570495	NB4	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
39	POLR2A	chr14:65568823-65569798	HUVEC	blood vessel:	n/a	n/a
40	TCF12	chr14:65569466-65569771	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr14:65568830-65569762	H1-hESC	embryonic stem cell:	n/a	chr14:65569277-65569290
42	POLR2A	chr14:65569442-65569969	A549	lung:	n/a	n/a
43	MAX	chr14:65568798-65570483	ECC-1	luminal epithelium:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
44	EP300	chr14:65569018-65570453	K562	blood:	n/a	chr14:65569271-65569280 chr14:65569611-65569627
45	MYC	chr14:65569522-65569739	GM12878	blood:	n/a	n/a
46	GABPA	chr14:65569459-65569926	A549	lung:	n/a	chr14:65569800-65569809
47	HMGN3	chr14:65568696-65569961	K562	blood:	n/a	n/a
48	USF1	chr14:65568926-65570175	HCT-116	colon:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
49	USF1	chr14:65568939-65570279	SK-N-SH	brain:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
50	YY1	chr14:65569007-65569941	HepG2	liver:	n/a	chr14:65569304-65569315

No.	Distal block	Cell Line	Cell type
1	chr14:65556086..65557952-chr14:65566751..65569779,3	MCF-7	breast:
2	chr14:64970303..64972355-chr14:65568366..65570387,2	K562	blood:
3	chr14:65569137..65571197-chr14:65878383..65880649,2	MCF-7	breast:
4	chr14:65451451..65454703-chr14:65567810..65571977,3	MCF-7	breast:

Variant related genes	Relation type
MAX	TF binding region
ENSG00000257365	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000259118	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10143198	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158577	0.86[EUR][1000 genomes]
rs1124751	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124752	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623603	0.81[EUR][1000 genomes]
rs1256417	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1270074	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1271582	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1953232	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957948	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957949	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1998688	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2151755	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763888	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2781373	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2781374	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34459643	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35410051	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35520739	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902357	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902359	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902360	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902361	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4902362	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902363	0.81[EUR][1000 genomes]
rs7145112	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7146939	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7150646	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7152277	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7158239	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159443	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004805	0.85[EUR][1000 genomes]
rs8005829	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008095	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8010213	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015921	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs942626	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs942628	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs942629	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs998247	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	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	chr14:65567200-65570200	Active TSS	Psoas Muscle	Psoas
2	chr14:65567400-65570000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:65567400-65570200	Active TSS	Fetal Intestine Large	intestine
4	chr14:65567600-65569800	Active TSS	Primary T cells fromperipheralblood	blood
5	chr14:65567600-65570000	Active TSS	HSMMtube	muscle
6	chr14:65567600-65570200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:65567600-65570200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:65567600-65570400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:65567600-65570600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:65567800-65569800	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:65567800-65569800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:65567800-65570000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:65567800-65570000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:65567800-65570000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:65567800-65570000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:65567800-65570000	Active TSS	Fetal Thymus	thymus
17	chr14:65567800-65570200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:65567800-65570200	Active TSS	Esophagus	oesophagus
19	chr14:65567800-65570200	Active TSS	Left Ventricle	heart
20	chr14:65567800-65570400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:65567800-65570400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:65568000-65569600	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:65568000-65569600	Active TSS	Placenta Amnion	Placenta Amnion
24	chr14:65568000-65569600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:65568000-65569600	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:65568000-65569800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:65568000-65569800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:65568000-65569800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr14:65568000-65569800	Active TSS	Lung	lung
30	chr14:65568000-65569800	Active TSS	Dnd41	blood
31	chr14:65568000-65569800	Active TSS	HepG2	liver
32	chr14:65568000-65569800	Active TSS	HMEC	breast
33	chr14:65568000-65570000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:65568000-65570000	Active TSS	Primary T cells from cord blood	blood
35	chr14:65568000-65570000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:65568000-65570000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr14:65568000-65570000	Active TSS	Fetal Heart	heart
38	chr14:65568000-65570000	Active TSS	Fetal Lung	lung
39	chr14:65568000-65570000	Active TSS	Small Intestine	intestine
40	chr14:65568000-65570000	Active TSS	Stomach Mucosa	stomach
41	chr14:65568000-65570000	Active TSS	Hela-S3	cervix
42	chr14:65568000-65570000	Active TSS	K562	blood
43	chr14:65568000-65570000	Active TSS	NHEK	skin
44	chr14:65568000-65570000	Active TSS	Osteobl	bone
45	chr14:65568000-65570200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:65568000-65570200	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr14:65568000-65570200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:65568000-65570200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:65568000-65570200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:65568000-65570200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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