Variant report

Variant	rs549323761
Chromosome Location	chr14:56046441-56046442
allele	C/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	HDAC2	chr14:56046256-56047070	MCF-7	breast:	n/a	n/a
2	MXI1	chr14:56045617-56048670	SK-N-SH	brain:	n/a	n/a
3	JUND	chr14:56045641-56047156	SK-N-SH	brain:	n/a	chr14:56045750-56045758 chr14:56046912-56046921
4	POLR2A	chr14:56046372-56048148	Hela-S3	cervix:	n/a	n/a
5	GATA2	chr14:56045846-56046809	SH-SY5Y	brain:	n/a	n/a
6	GATA1	chr14:56046387-56046928	PBDE	blood:	n/a	n/a
7	SP1	chr14:56046300-56047114	HCT-116	colon:	n/a	chr14:56046911-56046920 chr14:56046910-56046919 chr14:56046909-56046921 chr14:56046910-56046919 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046909-56046921 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046916-56046925 chr14:56046910-56046924
8	RCOR1	chr14:56046291-56046880	Hela-S3	cervix:	n/a	n/a
9	SMC3	chr14:56046423-56046962	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:56046376-56048101	ECC-1	luminal epithelium:	n/a	n/a
11	CHD2	chr14:56046391-56046811	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:56046367-56048084	GM18951	blood:	n/a	n/a
13	MAX	chr14:56046202-56046990	K562	blood:	n/a	n/a
14	POLR2A	chr14:56046294-56048539	Hela-S3	cervix:	n/a	n/a
15	HDAC2	chr14:56046249-56046935	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr14:56046342-56046649	A549	lung:	n/a	n/a
17	STAT1	chr14:56046401-56047050	GM12878	blood:	n/a	chr14:56046911-56046923
18	POLR2A	chr14:56046365-56046866	U87	brain:	n/a	n/a
19	EGR1	chr14:56046342-56047117	HCT-116	colon:	n/a	chr14:56046806-56046819
20	BCL3	chr14:56046380-56046864	A549	lung:	n/a	chr14:56046777-56046790
21	MTA3	chr14:56046091-56046731	GM12878	blood:	n/a	n/a
22	MAX	chr14:56046384-56048146	HepG2	liver:	n/a	chr14:56047371-56047381
23	MAX	chr14:56046201-56047117	A549	lung:	n/a	n/a
24	JUND	chr14:56046377-56046900	K562	blood:	n/a	n/a
25	MAZ	chr14:56046395-56047911	GM12878	blood:	n/a	chr14:56047371-56047381
26	RUNX3	chr14:56046243-56046862	GM12878	blood:	n/a	n/a
27	MAX	chr14:56046431-56047119	SK-N-SH	brain:	n/a	n/a
28	MAX	chr14:56046415-56047007	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:56046297-56047044	PBDE	blood:	n/a	n/a
30	PML	chr14:56046184-56047055	GM12878	blood:	n/a	n/a
31	TAF1	chr14:56046274-56046951	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr14:56046390-56046979	SK-N-SH_RA	brain:	n/a	chr14:56046891-56046905
33	MXI1	chr14:56046386-56048303	GM12878	blood:	n/a	n/a
34	TCF12	chr14:56046348-56048005	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr14:56046279-56047119	HepG2	liver:	n/a	n/a
36	SMARCB1	chr14:56045893-56048114	Hela-S3	cervix:	n/a	n/a
37	REST	chr14:56046419-56046692	A549	lung:	n/a	n/a
38	SP1	chr14:56046398-56047046	GM12878	blood:	n/a	chr14:56046911-56046920 chr14:56046910-56046919 chr14:56046909-56046921 chr14:56046910-56046919 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046909-56046921 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046916-56046925 chr14:56046910-56046924
39	POLR2A	chr14:56046415-56047808	K562	blood:	n/a	n/a
40	CHD1	chr14:56046308-56046859	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:56046358-56047196	HCT-116	colon:	n/a	n/a
42	POLR2A	chr14:56046424-56047279	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr14:56046392-56048137	GM15510	blood:	n/a	n/a
44	MAX	chr14:56046435-56046978	A549	lung:	n/a	n/a
45	POLR2A	chr14:56046345-56048523	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr14:56045922-56048399	IMR90	lung:	n/a	n/a
47	TAF1	chr14:56046281-56047002	A549	lung:	n/a	n/a
48	MAX	chr14:56046131-56047154	A549	lung:	n/a	n/a
49	STAT5A	chr14:56046238-56046714	GM12878	blood:	n/a	n/a
50	E2F6	chr14:56046359-56046983	A549	lung:	n/a	chr14:56046870-56046880

No.	Distal block	Cell Line	Cell type
1	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
2	chr14:56046261..56047012-chr19:41869306..41870109,2	NB4	blood:
3	chr14:56022620..56026445-chr14:56044953..56047966,3	MCF-7	breast:
4	chr14:55905450..55907568-chr14:56045550..56047292,2	MCF-7	breast:

Variant related genes	Relation type
KTN1	TF binding region
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000182521	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv3375073	chr14:56045749-56048597	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3345234	chr14:56045824-56048372	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56045200-56048000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:56045200-56048200	Active TSS	NHDF-Ad	bronchial
3	chr14:56045200-56048400	Active TSS	Ovary	ovary
4	chr14:56045200-56048400	Active TSS	A549	lung
5	chr14:56045200-56050000	Active TSS	GM12878-XiMat	blood
6	chr14:56045400-56047200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:56045400-56047800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56045400-56047800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:56045400-56048000	Active TSS	Brain Cingulate Gyrus	brain
10	chr14:56045400-56048000	Active TSS	Brain Hippocampus Middle	brain
11	chr14:56045400-56048000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:56045400-56048000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:56045400-56048000	Active TSS	Right Ventricle	heart
14	chr14:56045400-56048200	Active TSS	HMEC	breast
15	chr14:56045400-56048400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:56045600-56046600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:56045600-56046600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr14:56045600-56046600	Flanking Active TSS	Dnd41	blood
19	chr14:56045600-56047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:56045600-56048000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:56045600-56048000	Active TSS	Brain Anterior Caudate	brain
22	chr14:56045600-56048000	Active TSS	Fetal Intestine Large	intestine
23	chr14:56045600-56048200	Active TSS	Colon Smooth Muscle	Colon
24	chr14:56045600-56048200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:56045600-56048200	Active TSS	Rectal Smooth Muscle	rectum
26	chr14:56045600-56048400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr14:56045600-56048400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:56045600-56048400	Active TSS	Pancreas	Pancrea
29	chr14:56045600-56048600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr14:56045600-56048800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:56045600-56048800	Active TSS	NHLF	lung
32	chr14:56045600-56049000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:56045600-56050000	Active TSS	Right Atrium	heart
34	chr14:56045600-56051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:56045800-56046600	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr14:56045800-56046600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr14:56045800-56046600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr14:56045800-56046600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr14:56045800-56046600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:56045800-56046600	Flanking Active TSS	Thymus	Thymus
41	chr14:56045800-56046600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr14:56045800-56046800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr14:56045800-56046800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:56045800-56047800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:56045800-56047800	Active TSS	Liver	Liver
46	chr14:56045800-56047800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:56045800-56047800	Active TSS	Fetal Lung	lung
48	chr14:56045800-56047800	Active TSS	Spleen	Spleen
49	chr14:56045800-56048200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:56045800-56048200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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