Variant report

Variant	rs11846601
Chromosome Location	chr14:69264106-69264107
allele	A/C
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	EP300	chr14:69262333-69264410	K562	blood:	n/a	n/a
2	GATA1	chr14:69262430-69264491	PBDE	blood:	n/a	chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263767-69263776 chr14:69263869-69263890
3	POLR2A	chr14:69264082-69264175	HepG2	liver:	n/a	n/a
4	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
5	MAFF	chr14:69264020-69264217	K562	blood:	n/a	n/a
6	POLR2A	chr14:69263952-69264426	HCT-116	colon:	n/a	n/a
7	TEAD4	chr14:69263729-69264310	K562	blood:	n/a	n/a
8	EGR1	chr14:69264055-69264305	K562	blood:	n/a	chr14:69264272-69264296
9	TBP	chr14:69263938-69264488	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr14:69263970-69264352	K562	blood:	n/a	n/a
11	POLR2A	chr14:69263860-69264428	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAZ	chr14:69263654-69264358	K562	blood:	n/a	n/a
13	REST	chr14:69263981-69264296	K562	blood:	n/a	n/a
14	TBP	chr14:69263871-69264375	K562	blood:	n/a	n/a
15	POLR2A	chr14:69263605-69264349	K562	blood:	n/a	n/a
16	POLR2A	chr14:69257288-69264495	PBDE	blood:	n/a	n/a
17	HDAC2	chr14:69263986-69264275	K562	blood:	n/a	n/a
18	CEBPB	chr14:69263928-69264382	K562	blood:	n/a	n/a
19	POLR2A	chr14:69263840-69264342	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr14:69263866-69264558	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr14:69263922-69264242	K562	blood:	n/a	n/a
22	GATA2	chr14:69263689-69264351	K562	blood:	n/a	chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263876-69263883 chr14:69263767-69263776 chr14:69263869-69263890
23	BHLHE40	chr14:69264027-69264382	K562	blood:	n/a	n/a
24	POLR2A	chr14:69263947-69264395	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr14:69264031-69264402	K562	blood:	n/a	n/a
26	MAX	chr14:69264075-69264358	K562	blood:	n/a	n/a
27	POLR2A	chr14:69264000-69264362	H1-hESC	embryonic stem cell:	n/a	n/a
28	HDAC2	chr14:69264044-69264522	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:69263726-69264379	K562	blood:	n/a	n/a
30	ARID3A	chr14:69263631-69264330	K562	blood:	n/a	n/a
31	TBL1XR1	chr14:69263805-69264434	K562	blood:	n/a	n/a
32	CEBPD	chr14:69263660-69264385	K562	blood:	n/a	n/a
33	JUND	chr14:69263790-69264434	K562	blood:	n/a	n/a
34	TAF1	chr14:69264103-69264467	H1-hESC	embryonic stem cell:	n/a	n/a
35	NR2F2	chr14:69263969-69264271	K562	blood:	n/a	n/a
36	SP1	chr14:69262700-69264485	H1-hESC	embryonic stem cell:	n/a	chr14:69263668-69263682
37	ZMIZ1	chr14:69263445-69264435	K562	blood:	n/a	n/a
38	POLR2A	chr14:69264046-69264434	HCT-116	colon:	n/a	n/a
39	CBX3	chr14:69263849-69264433	K562	blood:	n/a	n/a
40	TEAD4	chr14:69263933-69264575	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUN	chr14:69262181-69264453	K562	blood:	n/a	n/a
42	ZBTB7A	chr14:69263823-69264313	K562	blood:	n/a	n/a
43	GTF2B	chr14:69263974-69264304	K562	blood:	n/a	n/a
44	POLR2A	chr14:69254876-69264506	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3A	chr14:69257301-69264370	H1-hESC	embryonic stem cell:	n/a	chr14:69260510-69260521
46	RCOR1	chr14:69263680-69264432	K562	blood:	n/a	n/a
47	POLR2A	chr14:69263824-69264366	K562	blood:	n/a	n/a
48	UBTF	chr14:69263710-69264338	K562	blood:	n/a	n/a
49	RCOR1	chr14:69263947-69264437	K562	blood:	n/a	n/a
50	NR2F2	chr14:69263531-69264434	K562	blood:	n/a	n/a

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:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000259038	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11848561	1.00[EUR][1000 genomes]
rs56944540	1.00[EUR][1000 genomes]
rs61025486	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73279154	1.00[EUR][1000 genomes]
rs73279175	0.94[AFR][1000 genomes]
rs8011424	1.00[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69262600-69264200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:69263000-69264200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:69263000-69264400	Flanking Active TSS	K562	blood
4	chr14:69263200-69264200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:69263200-69264200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:69263200-69264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:69263200-69264200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:69263200-69264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:69263200-69264400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:69263200-69264400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:69263200-69264400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:69263200-69264400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:69263200-69265000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:69263200-69265000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:69263200-69273000	Weak transcription	Ovary	ovary
16	chr14:69263200-69273200	Weak transcription	HSMM	muscle
17	chr14:69263400-69264200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:69263400-69264200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:69263400-69264200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:69263400-69264200	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:69263400-69264200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:69263400-69264200	Enhancers	Fetal Muscle Trunk	muscle
23	chr14:69263400-69264200	Enhancers	Right Atrium	heart
24	chr14:69263400-69264200	Enhancers	A549	lung
25	chr14:69263400-69264200	Enhancers	NHDF-Ad	bronchial
26	chr14:69263400-69264200	Enhancers	NHLF	lung
27	chr14:69263400-69264400	Enhancers	Fetal Muscle Leg	muscle
28	chr14:69263400-69264400	Enhancers	Placenta	Placenta
29	chr14:69263400-69264600	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:69263400-69264600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:69263400-69264800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:69263400-69267000	Weak transcription	HMEC	breast
33	chr14:69263600-69264200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:69263600-69264200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:69263600-69264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:69263600-69264200	Enhancers	Adipose Nuclei	Adipose
37	chr14:69263600-69264200	Enhancers	Fetal Heart	heart
38	chr14:69263600-69264200	Enhancers	Fetal Lung	lung
39	chr14:69263600-69264200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr14:69263600-69264400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:69263600-69264400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:69263600-69264400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:69263600-69264400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:69263600-69264600	Enhancers	Primary B cells from cord blood	blood
45	chr14:69263600-69264600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:69263600-69265200	Enhancers	GM12878-XiMat	blood
47	chr14:69263600-69266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:69263600-69266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:69263600-69266800	Weak transcription	Dnd41	blood
50	chr14:69263600-69267000	Weak transcription	Muscle Satellite Cultured Cells	--

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