Variant report

Variant	rs549619734
Chromosome Location	chr7:150705337-150705338
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	ZNF143	chr7:150705305-150706160	K562	blood:	n/a	n/a
2	POLR2A	chr7:150705199-150706158	K562	blood:	n/a	n/a
3	CHD2	chr7:150705249-150706411	K562	blood:	n/a	chr7:150706263-150706273
4	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
5	TRIM28	chr7:150704928-150706437	K562	blood:	n/a	n/a
6	ELK1	chr7:150705289-150706268	K562	blood:	n/a	n/a
7	TBP	chr7:150705141-150706337	K562	blood:	n/a	n/a
8	HMGN3	chr7:150704859-150706906	K562	blood:	n/a	chr7:150705783-150705790
9	JUND	chr7:150705064-150706680	K562	blood:	n/a	chr7:150706374-150706383
10	POLR2A	chr7:150705234-150706228	HCT-116	colon:	n/a	n/a
11	RFX5	chr7:150705018-150706175	K562	blood:	n/a	chr7:150705403-150705412
12	ZBTB7A	chr7:150705176-150705585	K562	blood:	n/a	n/a
13	EP300	chr7:150705265-150706059	GM12878	blood:	n/a	n/a
14	USF1	chr7:150705152-150706077	K562	blood:	n/a	n/a
15	IRF1	chr7:150705100-150706298	K562	blood:	n/a	chr7:150705688-150705705 chr7:150705127-150705147 chr7:150706261-150706275 chr7:150705402-150705411
16	POLR2A	chr7:150704780-150706401	K562	blood:	n/a	n/a
17	MXI1	chr7:150705273-150706649	K562	blood:	n/a	n/a
18	UBTF	chr7:150705217-150706236	K562	blood:	n/a	n/a
19	CEBPD	chr7:150705057-150706081	K562	blood:	n/a	n/a
20	TEAD4	chr7:150704818-150706970	K562	blood:	n/a	n/a
21	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
22	RCOR1	chr7:150704898-150706273	K562	blood:	n/a	n/a
23	MYC	chr7:150705211-150705426	K562	blood:	n/a	n/a
24	ZBTB7A	chr7:150705156-150706811	K562	blood:	n/a	n/a
25	NFYB	chr7:150705289-150706065	GM12878	blood:	n/a	chr7:150705400-150705414 chr7:150705400-150705415 chr7:150705400-150705415 chr7:150705796-150705811 chr7:150705399-150705411 chr7:150705796-150705811 chr7:150705402-150705412
26	HDAC2	chr7:150705007-150705582	K562	blood:	n/a	n/a
27	POLR2A	chr7:150704643-150706243	HUVEC	blood vessel:	n/a	n/a
28	TAL1	chr7:150705095-150706244	K562	blood:	n/a	n/a
29	STAT5A	chr7:150704950-150706193	K562	blood:	n/a	n/a
30	RCOR1	chr7:150704789-150706733	K562	blood:	n/a	n/a
31	CTCF	chr7:150705167-150706983	K562	blood:	n/a	n/a
32	GTF2F1	chr7:150705210-150706364	K562	blood:	n/a	n/a
33	GATA1	chr7:150705159-150706140	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705782-150705791
34	GATA2	chr7:150705029-150706122	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705296-150705310 chr7:150705782-150705791
35	PML	chr7:150705066-150706513	K562	blood:	n/a	n/a
36	CUX1	chr7:150705138-150706106	K562	blood:	n/a	n/a
37	TAF1	chr7:150705152-150706379	K562	blood:	n/a	n/a
38	BCLAF1	chr7:150705267-150706200	K562	blood:	n/a	n/a
39	FOS	chr7:150705230-150706050	K562	blood:	n/a	n/a
40	SMARCA4	chr7:150705230-150706841	K562	blood:	n/a	n/a
41	ZC3H11A	chr7:150705134-150706263	K562	blood:	n/a	n/a
42	CBX3	chr7:150704584-150707060	K562	blood:	n/a	n/a
43	POLR2A	chr7:150705122-150708335	K562	blood:	n/a	n/a
44	TBL1XR1	chr7:150705129-150706123	K562	blood:	n/a	n/a
45	GATA1	chr7:150704926-150706061	PBDE	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705782-150705791
46	MYC	chr7:150705303-150705348	HUVEC	blood vessel:	n/a	n/a
47	GABPA	chr7:150705204-150705463	K562	blood:	n/a	n/a
48	ARID3A	chr7:150705096-150706111	K562	blood:	n/a	n/a
49	GATA2	chr7:150705096-150706063	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705296-150705310 chr7:150705782-150705791
50	POLR2A	chr7:150705046-150706546	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150702588..150705432-chr7:150714534..150717607,5	MCF-7	breast:
2	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
3	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
10	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv274999	chr7:150701010-150708089	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv889472	chr7:150703414-150707837	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv609003	chr7:150703915-150708035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv609004	chr7:150703915-150708089	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv609005	chr7:150704400-150708035	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv609006	chr7:150704400-150708089	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150694600-150705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:150695000-150705400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:150699800-150706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:150701000-150706800	Weak transcription	A549	lung
5	chr7:150703400-150705400	Enhancers	HUVEC	blood vessel
6	chr7:150703400-150705600	Weak transcription	Esophagus	oesophagus
7	chr7:150703600-150705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:150703600-150705600	Genic enhancers	Placenta	Placenta
9	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:150703800-150705400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:150704000-150705400	Enhancers	Fetal Muscle Leg	muscle
12	chr7:150704000-150706000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:150704000-150706000	Enhancers	Left Ventricle	heart
14	chr7:150704000-150706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:150704200-150705600	Enhancers	Right Ventricle	heart
16	chr7:150704200-150706000	Enhancers	Spleen	Spleen
17	chr7:150704200-150706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:150704400-150705400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:150704400-150705400	Enhancers	Adipose Nuclei	Adipose
21	chr7:150704400-150705400	Weak transcription	Liver	Liver
22	chr7:150704400-150705600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:150704400-150706200	Enhancers	Lung	lung
24	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:150704600-150705400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:150704600-150705400	Enhancers	Fetal Thymus	thymus
27	chr7:150704600-150705400	Weak transcription	Gastric	stomach
28	chr7:150704600-150705600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:150704600-150705600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:150704600-150705600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr7:150704600-150705600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr7:150704600-150706000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:150704600-150707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:150704800-150705400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:150704800-150705400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:150704800-150705400	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:150704800-150705400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr7:150704800-150705400	Enhancers	Fetal Lung	lung
39	chr7:150704800-150705400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr7:150704800-150705400	Weak transcription	Right Atrium	heart
41	chr7:150704800-150705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:150704800-150705600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr7:150704800-150705800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:150704800-150705800	Flanking Active TSS	K562	blood
45	chr7:150704800-150706000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr7:150704800-150706000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:150704800-150706000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:150704800-150706200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:150704800-150706400	Enhancers	Primary B cells from cord blood	blood
50	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood

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