Variant report

Variant	rs8011558
Chromosome Location	chr14:69263341-69263342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr14:69262560-69263411	HepG2	liver:	n/a	n/a
2	EP300	chr14:69262333-69264410	K562	blood:	n/a	n/a
3	NFIC	chr14:69258747-69263739	GM12878	blood:	n/a	n/a
4	TBP	chr14:69262270-69263427	GM12878	blood:	n/a	n/a
5	ZNF143	chr14:69262580-69263435	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr14:69262133-69263492	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr14:69262215-69263441	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA1	chr14:69262430-69264491	PBDE	blood:	n/a	chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263767-69263776 chr14:69263869-69263890
9	CTCF	chr14:69262153-69263392	GM12878	blood:	n/a	n/a
10	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
11	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
12	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
13	BCL11A	chr14:69263001-69263363	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF3	chr14:69262157-69263439	GM12878	blood:	n/a	n/a
15	NFIC	chr14:69262979-69263481	HepG2	liver:	n/a	n/a
16	BCL11A	chr14:69262916-69263358	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
18	EP300	chr14:69258805-69263522	ECC-1	luminal epithelium:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
19	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
20	TEAD4	chr14:69262227-69263522	ECC-1	luminal epithelium:	n/a	n/a
21	FOSL2	chr14:69262571-69263534	A549	lung:	n/a	n/a
22	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
23	TCF12	chr14:69262966-69263402	GM12878	blood:	n/a	n/a
24	MEF2A	chr14:69262186-69263461	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
26	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
27	POU2F2	chr14:69263161-69263357	GM12878	blood:	n/a	n/a
28	YY1	chr14:69262126-69263413	GM12878	blood:	n/a	n/a
29	CBX3	chr14:69262986-69263505	K562	blood:	n/a	n/a
30	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
31	E2F6	chr14:69262034-69263540	A549	lung:	n/a	chr14:69262660-69262671
32	TCF3	chr14:69262966-69263373	GM12878	blood:	n/a	n/a
33	YY1	chr14:69263147-69263423	HCT-116	colon:	n/a	n/a
34	GABPA	chr14:69262474-69263480	MCF-7	breast:	n/a	n/a
35	POU5F1	chr14:69263075-69263440	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXM1	chr14:69259272-69263580	GM12878	blood:	n/a	chr14:69261347-69261355
37	POLR2A	chr14:69252481-69263392	GM18505	blood:	n/a	n/a
38	CHD2	chr14:69260668-69263540	H1-hESC	embryonic stem cell:	n/a	chr14:69261411-69261421 chr14:69261032-69261042
39	RCOR1	chr14:69262791-69263448	K562	blood:	n/a	n/a
40	TCF12	chr14:69262034-69263431	ECC-1	luminal epithelium:	n/a	n/a
41	RCOR1	chr14:69262184-69263415	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr14:69258414-69263620	Hela-S3	cervix:	n/a	chr14:69258897-69258907 chr14:69261411-69261421 chr14:69259834-69259844 chr14:69261032-69261042 chr14:69259118-69259128
43	HCFC1	chr14:69262287-69263458	K562	blood:	n/a	n/a
44	GTF2F1	chr14:69262267-69263510	Hela-S3	cervix:	n/a	n/a
45	FOS	chr14:69263153-69263401	MCF10A-Er-Src	breast:	n/a	n/a
46	GABPA	chr14:69263038-69263439	H1-hESC	embryonic stem cell:	n/a	n/a
47	RELA	chr14:69262261-69263437	GM18505	blood:	n/a	n/a
48	EP300	chr14:69262202-69263437	GM12878	blood:	n/a	n/a
49	PAX5	chr14:69262064-69263456	GM12878	blood:	n/a	n/a
50	ATF3	chr14:69263153-69263368	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69263302-69263352	H1-hESC	embryonic stem cell:	embryo
2	chr14:69263302-69263352	GM12892	blood:	n/a
3	chr14:69263302-69263352	ECC-1	luminal epithelium:	n/a
4	chr14:69263302-69263352	AG04449	skin:	fetal
5	chr14:69263302-69263352	HEK293	kidney:	embryo
6	chr14:69263302-69263352	A549	lung:	n/a
7	chr14:69263302-69263352	SK-N-SH_RA	brain:	n/a
8	chr14:69263302-69263352	ovcar-3	ovarian:	n/a
9	chr14:69263302-69263352	IMR90	lung:	fetal
10	chr14:69263302-69263352	AG04450	lung:	fetal
11	chr14:69263302-69263352	HMEC	breast:	n/a
12	chr14:69263302-69263352	PANC-1	pancreas:	n/a
13	chr14:69263302-69263352	U87	brain:	n/a
14	chr14:69263302-69263352	BJ	skin:	n/a
15	chr14:69263302-69263352	NHBE	bronchial:	n/a
16	chr14:69263302-69263352	HRCEpiC	kidney:	n/a
17	chr14:69263302-69263352	HIPEpiC	eye:	n/a
18	chr14:69263302-69263352	HL-60	blood:	n/a
19	chr14:69263302-69263352	CMK	blood:	n/a
20	chr14:69263302-69263352	NHDF-neo	bronchial:	n/a
21	chr14:69263302-69263352	PFSK-1	brain:	n/a
22	chr14:69263302-69263352	HRPEpiC	eye:	n/a
23	chr14:69263302-69263352	T-47D	breast:	n/a
24	chr14:69263302-69263352	SK-N-SH	brain:	n/a
25	chr14:69263302-69263352	HepG2	liver:	n/a
26	chr14:69263302-69263352	NT2-D1	testis:	n/a
27	chr14:69263302-69263352	K562	blood:	n/a
28	chr14:69263302-69263352	SK-N-MC	brain:	n/a
29	chr14:69263302-69263352	SAEC	small airway:	n/a
30	chr14:69263302-69263352	Caco-2	colon:	n/a
31	chr14:69263302-69263352	Hepatocyte	liver:	n/a
32	chr14:69263302-69263352	GM19239	blood:	n/a
33	chr14:69263302-69263352	GM12891	blood:	n/a
34	chr14:69263302-69263352	Hela-S3	cervix:	n/a
35	chr14:69263302-69263352	BE2_C	brain:	n/a
36	chr14:69263302-69263352	GM06990	blood:	n/a
37	chr14:69263302-69263352	HEEpiC	esophagus:	n/a
38	chr14:69263302-69263352	ProgFib	skin:	n/a
39	chr14:69263302-69263352	MCF10A-Er-Src	breast:	n/a
40	chr14:69263302-69263352	HCF	heart:	n/a
41	chr14:69263302-69263352	HUVEC	blood vessel:	n/a
42	chr14:69263302-69263352	Jurkat	blood:	n/a
43	chr14:69263302-69263352	HRE	kidney:	n/a
44	chr14:69263302-69263352	GM12878	blood:	n/a
45	chr14:69263302-69263352	NH-A	brain:	n/a
46	chr14:69263302-69263352	HCM	heart:	n/a
47	chr14:69263302-69263352	AoSMC	blood vessel:	n/a
48	chr14:69263302-69263352	RPTEC	kidney:	n/a
49	chr14:69263302-69263352	AG09309	skin:	n/a
50	chr14:69263302-69263352	HCPEpiC	choroid plexus:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:68140439..68142137-chr14:69262660..69264249,2	MCF-7	breast:
3	chr14:69262582..69264227-chr20:45984862..45986463,2	MCF-7	breast:
4	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
5	chr14:68852547..68854208-chr14:69260882..69263512,3	MCF-7	breast:
6	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
7	chr12:80328974..80330991-chr14:69261768..69263404,2	MCF-7	breast:
8	chr14:69260918..69263431-chr14:69412114..69414632,2	MCF-7	breast:
9	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
10	chr14:69259571..69263343-chr17:57914028..57917030,5	MCF-7	breast:
11	chr14:69201544..69205045-chr14:69260784..69263529,4	K562	blood:

No data

Variant related genes	Relation type
ZFP36L1	TF binding region
ZFP36L1	CpG island
ENSG00000199004	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000207089	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000058272	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10142466	0.90[ASN][1000 genomes]
rs11158762	0.80[GIH][hapmap];0.83[JPT][hapmap]
rs11626883	0.90[ASN][1000 genomes]
rs12889006	0.87[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1465788	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595260	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595261	1.00[ASN][1000 genomes]
rs168962	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17106304	1.00[ASN][1000 genomes]
rs17835641	0.90[ASN][1000 genomes]
rs17835647	0.90[ASN][1000 genomes]
rs1836984	0.93[ASN][1000 genomes]
rs194714	0.81[EUR][1000 genomes]
rs194733	0.81[CEU][hapmap]
rs194748	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs194749	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194751	1.00[ASN][1000 genomes]
rs194778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236262	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34489253	0.93[ASN][1000 genomes]
rs367677	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742887	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3825568	0.87[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs402223	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899258	0.92[ASN][1000 genomes]
rs4899259	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902651	0.90[ASN][1000 genomes]
rs6573857	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7146217	0.89[JPT][hapmap]
rs7149271	0.92[ASN][1000 genomes]
rs7156516	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022092	0.93[ASN][1000 genomes]
rs927292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:69257600-69263400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:69257800-69263400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:69258000-69263400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:69258200-69263400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:69258400-69263400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:69258600-69263400	Active TSS	Colonic Mucosa	Colon
11	chr14:69258800-69263400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:69261600-69263400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:69262400-69263400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:69262600-69263600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr14:69262600-69263800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:69262600-69264200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:69262800-69263400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:69262800-69263400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:69262800-69263400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:69262800-69263400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:69262800-69263400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr14:69262800-69263400	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr14:69262800-69263400	Flanking Active TSS	Placenta	Placenta
24	chr14:69262800-69263400	Flanking Active TSS	Dnd41	blood
25	chr14:69262800-69263400	Flanking Active TSS	HUVEC	blood vessel
26	chr14:69262800-69263600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr14:69262800-69263600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:69262800-69263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:69262800-69263600	Active TSS	Brain Hippocampus Middle	brain
30	chr14:69262800-69263600	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr14:69262800-69263800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:69263000-69263400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:69263000-69263400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr14:69263000-69263400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr14:69263000-69263400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:69263000-69263400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69263000-69263400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:69263000-69263400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr14:69263000-69263400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr14:69263000-69263400	Flanking Active TSS	Liver	Liver
41	chr14:69263000-69263400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr14:69263000-69263400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr14:69263000-69263400	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr14:69263000-69263400	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr14:69263000-69263400	Flanking Active TSS	Fetal Stomach	stomach
46	chr14:69263000-69263400	Flanking Active TSS	Fetal Thymus	thymus
47	chr14:69263000-69263400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:69263000-69263400	Flanking Active TSS	Stomach Mucosa	stomach
49	chr14:69263000-69263400	Flanking Active TSS	A549	lung
50	chr14:69263000-69263400	Flanking Active TSS	NH-A	brain

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