Variant report

Variant	rs2781374
Chromosome Location	chr14:65568563-65568564
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	REST	chr14:65568385-65570032	H1-neurons	neurons:	n/a	chr14:65568968-65568977 chr14:65568968-65568981
2	BHLHE40	chr14:65568552-65568724	HepG2	liver:	n/a	n/a
3	ELF1	chr14:65568308-65570086	GM12878	blood:	n/a	chr14:65569543-65569555 chr14:65569370-65569383 chr14:65569630-65569642
4	MYC	chr14:65568491-65570495	NB4	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
5	CTCF	chr14:65568560-65568710	Caco-2	colon:	n/a	n/a
6	MAZ	chr14:65568239-65570160	GM12878	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
7	MAZ	chr14:65567949-65570642	IMR90	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65568106-65568116 chr14:65569273-65569283 chr14:65569978-65569987
8	BHLHE40	chr14:65568515-65570484	K562	blood:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
9	POLR2A	chr14:65568479-65569348	K562	blood:	n/a	n/a
10	MXI1	chr14:65567505-65570717	SK-N-SH	brain:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
11	POLR2A	chr14:65568330-65569811	H1-neurons	neurons:	n/a	n/a
12	REST	chr14:65568482-65568793	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr14:65568534-65568769	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr14:65568378-65570397	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
15	POLR2A	chr14:65568492-65568802	HUVEC	blood vessel:	n/a	n/a
16	SIN3AK20	chr14:65568509-65570649	MCF-7	breast:	n/a	n/a
17	MXI1	chr14:65568470-65570619	IMR90	lung:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
18	REST	chr14:65568472-65568823	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr14:65568454-65569373	MCF-7	breast:	n/a	chr14:65568968-65568977 chr14:65568968-65568981
20	ZBTB7A	chr14:65568321-65568968	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr14:65568550-65570628	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
22	POLR2A	chr14:65568483-65570082	NB4	blood:	n/a	n/a
23	REST	chr14:65568447-65569307	K562	blood:	n/a	chr14:65568968-65568977 chr14:65568968-65568981
24	REST	chr14:65568542-65568748	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr14:65568362-65569001	K562	blood:	n/a	n/a
26	HCFC1	chr14:65568390-65570650	Hela-S3	cervix:	n/a	n/a

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	chr14:65451451..65454703-chr14:65567810..65571977,3	MCF-7	breast:

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

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10143198	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10151162	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158572	0.85[EUR][1000 genomes]
rs11158573	0.84[EUR][1000 genomes]
rs11158574	0.84[EUR][1000 genomes]
rs1124751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1124752	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625045	0.83[EUR][1000 genomes]
rs12147959	0.83[EUR][1000 genomes]
rs1256417	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1270074	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1271582	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12880781	0.85[EUR][1000 genomes]
rs12888794	0.85[EUR][1000 genomes]
rs1953228	0.84[EUR][1000 genomes]
rs1953232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957948	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957949	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998688	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2093989	0.92[EUR][1000 genomes]
rs2151755	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2763888	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781375	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34459643	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35410051	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35520739	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35769504	0.84[EUR][1000 genomes]
rs45604339	0.81[EUR][1000 genomes]
rs4899161	0.89[EUR][1000 genomes]
rs4902357	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902358	0.83[EUR][1000 genomes]
rs4902359	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902360	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902361	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902362	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55658675	0.83[EUR][1000 genomes]
rs7145112	0.87[AFR][1000 genomes]
rs7146939	0.89[ASN][1000 genomes]
rs7150646	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152277	0.84[AFR][1000 genomes]
rs7154852	0.84[EUR][1000 genomes]
rs7156617	0.90[EUR][1000 genomes]
rs7158239	0.82[AFR][1000 genomes]
rs7159443	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161394	0.84[EUR][1000 genomes]
rs8005829	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009396	0.85[EUR][1000 genomes]
rs8009714	0.85[EUR][1000 genomes]
rs8010213	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015921	0.81[AFR][1000 genomes]
rs8181937	0.81[EUR][1000 genomes]
rs8181938	0.81[EUR][1000 genomes]
rs8181939	0.84[EUR][1000 genomes]
rs884683	0.85[EUR][1000 genomes]
rs942626	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942627	0.84[EUR][1000 genomes]
rs942628	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942629	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs998247	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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	chr14:65556400-65569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65563800-65568600	Weak transcription	Spleen	Spleen
3	chr14:65567200-65569000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr14:65567200-65570200	Active TSS	Psoas Muscle	Psoas
5	chr14:65567400-65570000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:65567400-65570200	Active TSS	Fetal Intestine Large	intestine
7	chr14:65567600-65568600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:65567600-65569400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:65567600-65569800	Active TSS	Primary T cells fromperipheralblood	blood
10	chr14:65567600-65570000	Active TSS	HSMMtube	muscle
11	chr14:65567600-65570200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:65567600-65570200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:65567600-65570400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:65567600-65570600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:65567800-65568600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:65567800-65568600	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr14:65567800-65569800	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr14:65567800-65569800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:65567800-65570000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:65567800-65570000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:65567800-65570000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:65567800-65570000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:65567800-65570000	Active TSS	Fetal Thymus	thymus
24	chr14:65567800-65570200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:65567800-65570200	Active TSS	Esophagus	oesophagus
26	chr14:65567800-65570200	Active TSS	Left Ventricle	heart
27	chr14:65567800-65570400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:65567800-65570400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:65568000-65568600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:65568000-65569000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65568000-65569200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:65568000-65569600	Active TSS	Duodenum Mucosa	Duodenum
33	chr14:65568000-65569600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr14:65568000-65569600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:65568000-65569600	Active TSS	Stomach Smooth Muscle	stomach
36	chr14:65568000-65569800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:65568000-65569800	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr14:65568000-65569800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr14:65568000-65569800	Active TSS	Lung	lung
40	chr14:65568000-65569800	Active TSS	Dnd41	blood
41	chr14:65568000-65569800	Active TSS	HepG2	liver
42	chr14:65568000-65569800	Active TSS	HMEC	breast
43	chr14:65568000-65570000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:65568000-65570000	Active TSS	Primary T cells from cord blood	blood
45	chr14:65568000-65570000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:65568000-65570000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr14:65568000-65570000	Active TSS	Fetal Heart	heart
48	chr14:65568000-65570000	Active TSS	Fetal Lung	lung
49	chr14:65568000-65570000	Active TSS	Small Intestine	intestine
50	chr14:65568000-65570000	Active TSS	Stomach Mucosa	stomach

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