Variant report

Variant	rs34601568
Chromosome Location	chr14:65570466-65570467
allele	C/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	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
2	MYC	chr14:65568491-65570495	NB4	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
3	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
4	YY1	chr14:65570142-65570496	HepG2	liver:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
5	YY1	chr14:65570139-65570486	H1-hESC	embryonic stem cell:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
6	MAX	chr14:65569455-65570487	SK-N-SH	brain:	n/a	chr14:65569978-65569987
7	MAX	chr14:65568832-65570474	HCT-116	colon:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
8	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
9	MAX	chr14:65569064-65570515	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
10	MAX	chr14:65568946-65570565	HepG2	liver:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
11	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
12	MYC	chr14:65568784-65570498	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
13	MAX	chr14:65568667-65570597	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
14	EBF1	chr14:65570177-65570544	GM12878	blood:	n/a	chr14:65570345-65570356 chr14:65570345-65570358 chr14:65570347-65570356
15	HDAC2	chr14:65568805-65570577	MCF-7	breast:	n/a	chr14:65570352-65570366 chr14:65570351-65570365
16	YY1	chr14:65570064-65570498	SK-N-SH	brain:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
17	YY1	chr14:65570057-65570540	SK-N-SH_RA	brain:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
18	YY1	chr14:65570132-65570515	GM12878	blood:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
19	NRF1	chr14:65569053-65570517	SK-N-SH	brain:	n/a	chr14:65569428-65569439 chr14:65569800-65569809 chr14:65569430-65569439
20	MAX	chr14:65568613-65570591	MCF-7	breast:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
21	EBF1	chr14:65570157-65570509	GM12878	blood:	n/a	chr14:65570345-65570356 chr14:65570345-65570358 chr14:65570347-65570356
22	TCF12	chr14:65568937-65570573	A549	lung:	n/a	n/a
23	MXI1	chr14:65567505-65570717	SK-N-SH	brain:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
24	SREBP1	chr14:65568900-65570598	GM12878	blood:	n/a	n/a
25	MAX	chr14:65568722-65570577	MCF-7	breast:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
26	YY1	chr14:65570146-65570499	H1-hESC	embryonic stem cell:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
27	YY1	chr14:65570064-65570524	ECC-1	luminal epithelium:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
28	KAP1	chr14:65569571-65570501	HEK293	kidney:	n/a	n/a
29	POLR2A	chr14:65570114-65570485	HepG2	liver:	n/a	n/a
30	ELF1	chr14:65568773-65570550	MCF-7	breast:	n/a	chr14:65569543-65569555 chr14:65569370-65569383 chr14:65569630-65569642
31	MAX	chr14:65568625-65570495	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
32	PAX5	chr14:65569643-65570572	GM12878	blood:	n/a	chr14:65570295-65570313
33	EBF1	chr14:65570161-65570503	GM12878	blood:	n/a	chr14:65570345-65570356 chr14:65570345-65570358 chr14:65570347-65570356
34	YY1	chr14:65570173-65570526	ECC-1	luminal epithelium:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
35	SIN3AK20	chr14:65568509-65570649	MCF-7	breast:	n/a	n/a
36	MAX	chr14:65568857-65570532	HCT-116	colon:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
37	MXI1	chr14:65568470-65570619	IMR90	lung:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
38	E2F6	chr14:65569306-65570521	A549	lung:	n/a	chr14:65569800-65569809 chr14:65569429-65569438
39	SIN3AK20	chr14:65568657-65570629	MCF-7	breast:	n/a	n/a
40	MAX	chr14:65568550-65570628	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
41	MAX	chr14:65568708-65570559	NB4	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
42	YY1	chr14:65570144-65570527	SK-N-SH_RA	brain:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
43	MAX	chr14:65568874-65570469	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
44	MAX	chr14:65568784-65570556	ECC-1	luminal epithelium:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
45	YY1	chr14:65570165-65570486	GM12878	blood:	n/a	chr14:65570320-65570330 chr14:65570319-65570331
46	CEBPB	chr14:65569842-65570589	A549	lung:	n/a	chr14:65570108-65570121
47	MYC	chr14:65569121-65570551	MCF10A-Er-Src	breast:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
48	MAX	chr14:65568571-65570530	HepG2	liver:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
49	HCFC1	chr14:65568390-65570650	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65569137..65571197-chr14:65878383..65880649,2	MCF-7	breast:
2	chr14:65569733..65572500-chr14:65579946..65582085,4	MCF-7	breast:
3	chr14:65569605..65571519-chr14:65575666..65579395,3	MCF-7	breast:
4	chr14:65451451..65454703-chr14:65567810..65571977,3	MCF-7	breast:
5	chr14:65380733..65382559-chr14:65569608..65571121,2	K562	blood:

Variant related genes	Relation type
MAX	TF binding region
ENSG00000257365	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11845448	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102412	1.00[MEX][hapmap]
rs2296314	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2296320	0.85[ASN][1000 genomes]
rs3783716	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3783717	0.95[ASN][1000 genomes]
rs3783718	0.95[ASN][1000 genomes]
rs3783719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3825641	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56325087	0.95[ASN][1000 genomes]
rs7142375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155468	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72728236	0.95[ASN][1000 genomes]
rs73270852	0.90[AMR][1000 genomes]
rs73270859	0.90[AMR][1000 genomes]
rs73272630	1.00[ASN][1000 genomes]
rs9944027	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65567600-65570600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:65568000-65570600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:65568000-65570600	Active TSS	NHLF	lung
4	chr14:65569400-65570600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:65569400-65570600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:65569600-65570600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr14:65569800-65570600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:65569800-65570600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:65569800-65570600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr14:65569800-65570600	Flanking Active TSS	Dnd41	blood
11	chr14:65569800-65570600	Flanking Active TSS	HepG2	liver
12	chr14:65569800-65570600	Flanking Active TSS	HUVEC	blood vessel
13	chr14:65569800-65570600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:65570000-65570600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:65570000-65570600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:65570000-65570600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:65570000-65570600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:65570000-65570600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:65570000-65570600	Flanking Active TSS	Hela-S3	cervix
20	chr14:65570000-65570600	Flanking Active TSS	K562	blood
21	chr14:65570000-65570600	Flanking Active TSS	NHEK	skin
22	chr14:65570200-65570600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr14:65570200-65570600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:65570200-65570600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:65570200-65570600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr14:65570200-65570600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:65570200-65570600	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:65570200-65570600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:65570200-65570600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:65570200-65570600	Enhancers	Small Intestine	intestine
31	chr14:65570200-65570600	Enhancers	Thymus	Thymus
32	chr14:65570200-65570600	Flanking Active TSS	A549	lung
33	chr14:65570200-65570600	Flanking Active TSS	GM12878-XiMat	blood
34	chr14:65570200-65570600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr14:65570200-65572000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:65570400-65570600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:65570400-65570600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:65570400-65570600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:65570400-65570600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:65570400-65570600	Enhancers	Primary T cells from cord blood	blood
41	chr14:65570400-65570600	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:65570400-65570600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:65570400-65570600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:65570400-65570600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:65570400-65570600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:65570400-65570600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:65570400-65570600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:65570400-65570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:65570400-65570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:65570400-65570600	Enhancers	Liver	Liver

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