Variant report

Variant	rs17111256
Chromosome Location	chr14:81408671-81408672
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	TBP	chr14:81407951-81408870	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr14:81407357-81408773	MCF-7	breast:	n/a	n/a
3	EBF1	chr14:81407900-81408893	GM12878	blood:	n/a	n/a
4	TCF7L2	chr14:81407709-81408739	HCT-116	colon:	n/a	n/a
5	BRCA1	chr14:81407957-81408768	GM12878	blood:	n/a	n/a
6	MXI1	chr14:81407881-81408984	GM12878	blood:	n/a	chr14:81408060-81408075
7	EP300	chr14:81408133-81408956	GM12878	blood:	n/a	chr14:81408194-81408208
8	SPI1	chr14:81408653-81409053	GM12891	blood:	n/a	n/a
9	E2F4	chr14:81407138-81409104	MCF10A-Er-Src	breast:	n/a	chr14:81408116-81408126
10	ZKSCAN1	chr14:81408273-81408718	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr14:81407960-81408891	MCF10A-Er-Src	breast:	n/a	chr14:81408450-81408462 chr14:81408243-81408254
12	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
13	MXI1	chr14:81407122-81408718	SK-N-SH	brain:	n/a	chr14:81408060-81408075
14	STAT3	chr14:81408053-81409053	GM12878	blood:	n/a	chr14:81408450-81408462 chr14:81408243-81408254
15	CHD1	chr14:81407988-81408841	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr14:81407506-81408679	MCF-7	breast:	n/a	n/a
17	TBL1XR1	chr14:81407944-81408842	GM12878	blood:	n/a	n/a
18	ZNF384	chr14:81407830-81408978	GM12878	blood:	n/a	n/a
19	RCOR1	chr14:81407520-81408691	K562	blood:	n/a	n/a
20	POLR2A	chr14:81407511-81408773	Raji	blood:	n/a	n/a
21	RELA	chr14:81407900-81408752	GM19099	blood:	n/a	n/a
22	RCOR1	chr14:81407869-81408745	GM12878	blood:	n/a	n/a
23	IKZF1	chr14:81408068-81408888	GM12878	blood:	n/a	n/a
24	ZNF384	chr14:81407771-81408734	K562	blood:	n/a	n/a
25	HCFC1	chr14:81407354-81409090	Hela-S3	cervix:	n/a	n/a
26	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
27	WRNIP1	chr14:81407961-81408786	GM12878	blood:	n/a	n/a
28	CHD2	chr14:81407906-81409014	GM12878	blood:	n/a	n/a
29	EP300	chr14:81407991-81409058	GM12878	blood:	n/a	chr14:81408194-81408208 chr14:81408107-81408123
30	USF2	chr14:81407974-81408720	GM12878	blood:	n/a	n/a
31	SPI1	chr14:81408641-81409008	GM12891	blood:	n/a	n/a
32	SPI1	chr14:81408530-81409099	GM12878	blood:	n/a	n/a
33	SPI1	chr14:81408621-81409125	HL-60	blood:	n/a	n/a

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: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10133034	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10135084	0.87[CHB][hapmap]
rs10141970	0.82[JPT][hapmap]
rs10142753	0.81[JPT][hapmap]
rs1016699	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs1038523	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11627934	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs1197467	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1197474	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs12050151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12050342	0.81[JPT][hapmap]
rs12050416	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12433134	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12434318	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12437260	0.82[JPT][hapmap]
rs12896436	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs162171	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs162174	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs170595	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs170596	0.82[JPT][hapmap]
rs17111153	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17111237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111246	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615020	0.81[JPT][hapmap]
rs1863766	0.81[JPT][hapmap]
rs2010847	0.82[JPT][hapmap]
rs2059719	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2114702	0.86[ASN][1000 genomes]
rs2162547	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs228119	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs228122	0.81[JPT][hapmap]
rs2284720	0.81[JPT][hapmap]
rs2288347	0.81[JPT][hapmap]
rs2556607	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs2619661	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs28850656	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327423	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs327424	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs327428	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs327429	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs327434	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327435	0.81[CHB][hapmap]
rs327440	0.82[CHB][hapmap]
rs327442	0.81[CHB][hapmap]
rs327446	0.81[CHB][hapmap]
rs327452	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs327454	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs327462	0.82[CHB][hapmap]
rs327463	0.81[CHB][hapmap]
rs327467	0.82[CHB][hapmap]
rs327470	0.82[CHB][hapmap]
rs327472	0.82[CHB][hapmap]
rs328206	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs328212	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs328213	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs328258	0.82[CHB][hapmap]
rs4899780	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs4899781	0.80[ASN][1000 genomes]
rs4903949	0.81[JPT][hapmap]
rs57104434	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs6574610	0.82[JPT][hapmap]
rs6574611	0.80[ASN][1000 genomes]
rs7140452	0.88[JPT][hapmap]
rs7157845	0.82[JPT][hapmap]
rs7158936	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs722906	0.82[JPT][hapmap]
rs72693028	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72693029	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72693043	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693050	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693053	0.90[EUR][1000 genomes]
rs759919	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs768359	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs8008366	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8011273	0.81[CHB][hapmap]
rs8016507	0.81[JPT][hapmap]
rs9323694	0.86[CHB][hapmap];0.86[JPT][hapmap]

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:110 , 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	chr14:81407200-81408800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:81407200-81408800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:81407200-81408800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:81407200-81408800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:81407200-81409000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:81407200-81409000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:81407200-81409000	Active TSS	HepG2	liver
14	chr14:81407400-81408800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:81407400-81408800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr14:81407400-81408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr14:81407400-81408800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:81407400-81408800	Active TSS	Left Ventricle	heart
19	chr14:81407400-81408800	Active TSS	Psoas Muscle	Psoas
20	chr14:81407400-81408800	Flanking Active TSS	Thymus	Thymus
21	chr14:81407400-81408800	Active TSS	HSMMtube	muscle
22	chr14:81407400-81409000	Active TSS	Brain Substantia Nigra	brain
23	chr14:81407600-81408800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:81407600-81408800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:81407600-81408800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:81407600-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:81407600-81408800	Active TSS	Fetal Brain Female	brain
28	chr14:81407800-81409000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:81408000-81408800	Active TSS	Colonic Mucosa	Colon
30	chr14:81408000-81408800	Active TSS	Fetal Brain Male	brain
31	chr14:81408200-81408800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr14:81408200-81408800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr14:81408200-81408800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:81408200-81408800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:81408200-81408800	Flanking Active TSS	Fetal Thymus	thymus
36	chr14:81408200-81409000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr14:81408200-81409000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr14:81408200-81409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:81408200-81409000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr14:81408200-81409200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr14:81408200-81409200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:81408400-81408800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:81408400-81408800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr14:81408400-81408800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:81408400-81408800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:81408400-81408800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:81408400-81408800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:81408400-81408800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:81408400-81408800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:81408400-81408800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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