Variant report

Variant	rs8009260
Chromosome Location	chr14:81408591-81408592
allele	G/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	TBP	chr14:81407951-81408870	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr14:81407357-81408773	MCF-7	breast:	n/a	n/a
3	TBL1XR1	chr14:81407913-81408593	K562	blood:	n/a	n/a
4	MXI1	chr14:81407248-81408597	IMR90	lung:	n/a	chr14:81408060-81408075
5	EBF1	chr14:81407900-81408893	GM12878	blood:	n/a	n/a
6	TCF7L2	chr14:81407709-81408739	HCT-116	colon:	n/a	n/a
7	BRCA1	chr14:81407957-81408768	GM12878	blood:	n/a	n/a
8	MXI1	chr14:81407881-81408984	GM12878	blood:	n/a	chr14:81408060-81408075
9	SIN3A	chr14:81407430-81408659	H1-hESC	embryonic stem cell:	n/a	chr14:81407702-81407715
10	EP300	chr14:81408133-81408956	GM12878	blood:	n/a	chr14:81408194-81408208
11	E2F4	chr14:81407138-81409104	MCF10A-Er-Src	breast:	n/a	chr14:81408116-81408126
12	ZKSCAN1	chr14:81408273-81408718	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr14:81407960-81408891	MCF10A-Er-Src	breast:	n/a	chr14:81408450-81408462 chr14:81408243-81408254
14	ZNF143	chr14:81407600-81408703	GM12878	blood:	n/a	chr14:81408137-81408146 chr14:81408139-81408148 chr14:81408125-81408144 chr14:81408209-81408224 chr14:81407803-81407821 chr14:81408130-81408148 chr14:81408202-81408220
15	MXI1	chr14:81407122-81408718	SK-N-SH	brain:	n/a	chr14:81408060-81408075
16	MAX	chr14:81407479-81408591	A549	lung:	n/a	chr14:81408066-81408075
17	STAT3	chr14:81408053-81409053	GM12878	blood:	n/a	chr14:81408450-81408462 chr14:81408243-81408254
18	CHD1	chr14:81407988-81408841	GM12878	blood:	n/a	n/a
19	SIN3AK20	chr14:81407506-81408679	MCF-7	breast:	n/a	n/a
20	TBL1XR1	chr14:81407944-81408842	GM12878	blood:	n/a	n/a
21	ZNF384	chr14:81407830-81408978	GM12878	blood:	n/a	n/a
22	RFX5	chr14:81408027-81408618	GM12878	blood:	n/a	chr14:81408060-81408077 chr14:81408061-81408076 chr14:81408061-81408076
23	RCOR1	chr14:81407520-81408691	K562	blood:	n/a	n/a
24	SP1	chr14:81407654-81408603	HCT-116	colon:	n/a	chr14:81407903-81407917 chr14:81407798-81407807
25	POLR2A	chr14:81407511-81408773	Raji	blood:	n/a	n/a
26	RELA	chr14:81407900-81408752	GM19099	blood:	n/a	n/a
27	RCOR1	chr14:81407869-81408745	GM12878	blood:	n/a	n/a
28	IKZF1	chr14:81408068-81408888	GM12878	blood:	n/a	n/a
29	ZNF384	chr14:81407771-81408734	K562	blood:	n/a	n/a
30	MAZ	chr14:81407770-81408661	GM12878	blood:	n/a	chr14:81408066-81408075
31	MAX	chr14:81407904-81408667	GM12878	blood:	n/a	chr14:81408066-81408075
32	MAZ	chr14:81407645-81408595	Hela-S3	cervix:	n/a	chr14:81408066-81408075
33	HCFC1	chr14:81407354-81409090	Hela-S3	cervix:	n/a	n/a
34	ZNF143	chr14:81407539-81408738	K562	blood:	n/a	chr14:81408137-81408146 chr14:81408139-81408148 chr14:81408125-81408144 chr14:81408209-81408224 chr14:81407803-81407821 chr14:81408130-81408148 chr14:81408202-81408220
35	WRNIP1	chr14:81407961-81408786	GM12878	blood:	n/a	n/a
36	PML	chr14:81407723-81408617	GM12878	blood:	n/a	n/a
37	CHD2	chr14:81407906-81409014	GM12878	blood:	n/a	n/a
38	EP300	chr14:81407991-81409058	GM12878	blood:	n/a	chr14:81408194-81408208 chr14:81408107-81408123
39	USF2	chr14:81407974-81408720	GM12878	blood:	n/a	n/a
40	SPI1	chr14:81408530-81409099	GM12878	blood:	n/a	n/a
41	SP1	chr14:81407712-81408633	A549	lung:	n/a	chr14:81407903-81407917 chr14:81407798-81407807
42	ELK1	chr14:81407977-81408666	GM12878	blood:	n/a	n/a
43	BRCA1	chr14:81407519-81408600	Hela-S3	cervix:	n/a	n/a
44	SP1	chr14:81407701-81408607	HCT-116	colon:	n/a	chr14:81407903-81407917 chr14:81407798-81407807

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81401790..81404001-chr14:81408260..81409826,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10136404	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1016699	0.81[AFR][1000 genomes]
rs1025253	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11623416	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627019	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11627929	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12050416	0.81[AFR][1000 genomes]
rs12892825	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895801	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111270	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044737	0.81[EUR][1000 genomes]
rs2114703	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162548	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217176	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371457	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371462	0.84[EUR][1000 genomes]
rs2888046	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742721	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742722	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899782	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899783	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903948	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903954	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574613	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67065081	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143744	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153979	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154132	0.81[EUR][1000 genomes]
rs7154373	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs728444	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs759917	0.80[EUR][1000 genomes]
rs8005883	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009120	0.84[EUR][1000 genomes]
rs8016507	0.82[AFR][1000 genomes]
rs8022411	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81406600-81408800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:81406600-81408800	Active TSS	NHLF	lung
3	chr14:81406800-81409000	Active TSS	K562	blood
4	chr14:81407000-81408800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:81407000-81408800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:81407000-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81407200-81408600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:81407200-81408600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:81407200-81408600	Active TSS	Fetal Muscle Trunk	muscle
10	chr14:81407200-81408600	Active TSS	Right Ventricle	heart
11	chr14:81407200-81408800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr14:81407200-81408800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:81407200-81408800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr14:81407200-81408800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:81407200-81409000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:81407200-81409000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:81407200-81409000	Active TSS	HepG2	liver
18	chr14:81407400-81408600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr14:81407400-81408600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:81407400-81408600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:81407400-81408600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:81407400-81408600	Active TSS	Esophagus	oesophagus
23	chr14:81407400-81408600	Active TSS	Fetal Intestine Large	intestine
24	chr14:81407400-81408600	Active TSS	Right Atrium	heart
25	chr14:81407400-81408600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr14:81407400-81408600	Active TSS	NHDF-Ad	bronchial
27	chr14:81407400-81408800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:81407400-81408800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr14:81407400-81408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr14:81407400-81408800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:81407400-81408800	Active TSS	Left Ventricle	heart
32	chr14:81407400-81408800	Active TSS	Psoas Muscle	Psoas
33	chr14:81407400-81408800	Flanking Active TSS	Thymus	Thymus
34	chr14:81407400-81408800	Active TSS	HSMMtube	muscle
35	chr14:81407400-81409000	Active TSS	Brain Substantia Nigra	brain
36	chr14:81407600-81408600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:81407600-81408600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:81407600-81408600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr14:81407600-81408600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:81407600-81408600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:81407600-81408600	Active TSS	Gastric	stomach
42	chr14:81407600-81408600	Active TSS	Stomach Mucosa	stomach
43	chr14:81407600-81408800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:81407600-81408800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:81407600-81408800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:81407600-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:81407600-81408800	Active TSS	Fetal Brain Female	brain
48	chr14:81407800-81408600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:81407800-81408600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:81407800-81408600	Active TSS	Fetal Stomach	stomach

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