Variant report

Variant	rs550576970
Chromosome Location	chr14:70077773-70077774
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	MTA3	chr14:70077577-70078189	GM12878	blood:	n/a	n/a
2	MXI1	chr14:70076983-70080833	IMR90	lung:	n/a	chr14:70077063-70077078
3	EGR1	chr14:70077612-70077895	K562	blood:	n/a	chr14:70077794-70077807
4	REST	chr14:70076933-70079378	H1-neurons	neurons:	n/a	chr14:70078837-70078850 chr14:70079296-70079309 chr14:70078771-70078789 chr14:70078864-70078877 chr14:70078774-70078787 chr14:70078867-70078880
5	MYC	chr14:70077559-70078785	A549	lung:	n/a	n/a
6	RCOR1	chr14:70077078-70078894	K562	blood:	n/a	n/a
7	SIN3A	chr14:70077669-70079798	H1-hESC	embryonic stem cell:	n/a	chr14:70078867-70078880 chr14:70078319-70078328 chr14:70078780-70078791
8	MAX	chr14:70077652-70078721	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZBTB7A	chr14:70077647-70077841	K562	blood:	n/a	n/a
10	NR2F2	chr14:70077548-70077975	K562	blood:	n/a	n/a
11	MAX	chr14:70077742-70078564	MCF-7	breast:	n/a	n/a
12	KAP1	chr14:70077187-70078140	HEK293	kidney:	n/a	n/a
13	RFX5	chr14:70077757-70078522	Hela-S3	cervix:	n/a	chr14:70077912-70077928
14	MAX	chr14:70077603-70078678	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:70077513-70079172	H1-neurons	neurons:	n/a	n/a
16	NR2F2	chr14:70077461-70078084	K562	blood:	n/a	n/a
17	RCOR1	chr14:70077508-70078606	Hela-S3	cervix:	n/a	n/a
18	MAX	chr14:70077754-70078717	ECC-1	luminal epithelium:	n/a	n/a
19	TCF7L2	chr14:70077451-70078145	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:70076913-70079729	Raji	blood:	n/a	n/a
21	EGR1	chr14:70077601-70077911	K562	blood:	n/a	chr14:70077794-70077807
22	TCF12	chr14:70077726-70078265	A549	lung:	n/a	n/a
23	POLR2A	chr14:70077729-70078620	U87	brain:	n/a	n/a
24	CREB1	chr14:70077641-70078731	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr14:70077742-70077841	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr14:70076952-70078183	HEK293-T-REx	kidney:	n/a	chr14:70077117-70077126
27	MXI1	chr14:70076939-70080246	SK-N-SH	brain:	n/a	chr14:70077063-70077078
28	MXI1	chr14:70077439-70080628	GM12878	blood:	n/a	n/a
29	GTF2F1	chr14:70077757-70078166	Hela-S3	cervix:	n/a	chr14:70078099-70078110
30	POLR2A	chr14:70077401-70078770	H1-neurons	neurons:	n/a	n/a
31	MAX	chr14:70077747-70078690	HCT-116	colon:	n/a	n/a
32	CREB1	chr14:70077651-70078588	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr14:70077743-70079178	A549	lung:	n/a	chr14:70078788-70078798
34	POLR2A	chr14:70077532-70078626	SK-N-MC	brain:	n/a	n/a
35	MAX	chr14:70077747-70078629	A549	lung:	n/a	n/a
36	NR2F2	chr14:70077466-70078181	MCF-7	breast:	n/a	n/a
37	MAZ	chr14:70077490-70079333	K562	blood:	n/a	chr14:70078788-70078798
38	MAX	chr14:70077691-70078782	HCT-116	colon:	n/a	n/a
39	POLR2A	chr14:70076990-70080743	IMR90	lung:	n/a	n/a
40	MAZ	chr14:70077771-70078587	GM12878	blood:	n/a	n/a
41	MYC	chr14:70077425-70078619	K562	blood:	n/a	n/a
42	ATF3	chr14:70077672-70077886	K562	blood:	n/a	n/a
43	EP300	chr14:70077755-70078674	ECC-1	luminal epithelium:	n/a	chr14:70078407-70078423
44	POLR2A	chr14:70077463-70083420	GM12891	blood:	n/a	n/a
45	TCF7L2	chr14:70077548-70079032	HCT-116	colon:	n/a	n/a
46	POLR2A	chr14:70077739-70079053	HUVEC	blood vessel:	n/a	n/a
47	HCFC1	chr14:70077515-70078775	Hela-S3	cervix:	n/a	n/a
48	MAX	chr14:70077771-70078617	SK-N-SH	brain:	n/a	n/a
49	MYC	chr14:70077750-70078639	K562	blood:	n/a	n/a
50	MAX	chr14:70077693-70079899	Hela-S3	cervix:	n/a	chr14:70078788-70078798 chr14:70079712-70079723

No.	Distal block	Cell Line	Cell type
1	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:
2	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
3	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
4	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
5	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
6	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
7	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3388575	chr14:70077224-70080072	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70076600-70077800	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:70076600-70077800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr14:70076800-70077800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70076800-70077800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr14:70076800-70078000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr14:70076800-70078000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr14:70076800-70078000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr14:70076800-70078000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr14:70076800-70078000	Flanking Active TSS	Dnd41	blood
10	chr14:70076800-70078000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr14:70076800-70079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:70077000-70077800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:70077000-70077800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:70077000-70077800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr14:70077000-70077800	Flanking Active TSS	Fetal Brain Male	brain
16	chr14:70077000-70077800	Flanking Active TSS	Fetal Brain Female	brain
17	chr14:70077000-70077800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr14:70077000-70077800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr14:70077000-70078000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:70077000-70078000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:70077000-70078000	Flanking Active TSS	GM12878-XiMat	blood
24	chr14:70077000-70078000	Flanking Active TSS	NHEK	skin
25	chr14:70077000-70078000	Flanking Active TSS	Osteobl	bone
26	chr14:70077000-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:70077000-70078200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr14:70077000-70078400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:70077200-70077800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr14:70077200-70077800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:70077200-70077800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr14:70077200-70077800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:70077200-70077800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:70077200-70077800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:70077200-70077800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr14:70077200-70077800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr14:70077200-70077800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr14:70077200-70077800	Flanking Active TSS	Right Atrium	heart
39	chr14:70077200-70077800	Flanking Active TSS	A549	lung
40	chr14:70077200-70077800	Flanking Active TSS	Hela-S3	cervix
41	chr14:70077200-70077800	Flanking Active TSS	NH-A	brain
42	chr14:70077200-70078000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:70077200-70078000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:70077200-70078000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr14:70077200-70078000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:70077200-70078000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:70077200-70078000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:70077200-70078000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:70077200-70078000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr14:70077200-70078000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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