Variant report

Variant	rs572444319
Chromosome Location	chr7:150704790-150704791
allele	C/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	POLR2A	chr7:150704562-150704995	HUVEC	blood vessel:	n/a	n/a
2	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
3	POLR2A	chr7:150704780-150706401	K562	blood:	n/a	n/a
4	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
5	CTCF	chr7:150704640-150704790	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:150704643-150706243	HUVEC	blood vessel:	n/a	n/a
7	RCOR1	chr7:150704789-150706733	K562	blood:	n/a	n/a
8	CBX3	chr7:150704584-150707060	K562	blood:	n/a	n/a
9	UBTF	chr7:150704778-150706610	K562	blood:	n/a	n/a
10	MAZ	chr7:150704780-150708264	K562	blood:	n/a	chr7:150706433-150706443
11	POLR2A	chr7:150704381-150705020	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr7:150703656-150706347	HUVEC	blood vessel:	n/a	n/a
13	CEBPD	chr7:150704723-150706889	K562	blood:	n/a	n/a
14	ELF1	chr7:150704596-150704977	K562	blood:	n/a	n/a
15	GATA2	chr7:150704635-150705987	HUVEC	blood vessel:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705296-150705310 chr7:150705782-150705791

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
ENSG00000181652	Chromatin interaction
ENSG00000164867	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150692200-150705000	Weak transcription	Ovary	ovary
2	chr7:150694600-150705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:150694800-150704800	Weak transcription	Fetal Lung	lung
4	chr7:150694800-150705200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:150695000-150705400	Weak transcription	Fetal Intestine Large	intestine
6	chr7:150699800-150706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:150701000-150704800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:150701000-150706800	Weak transcription	A549	lung
9	chr7:150703400-150705200	Flanking Active TSS	HepG2	liver
10	chr7:150703400-150705400	Enhancers	HUVEC	blood vessel
11	chr7:150703400-150705600	Weak transcription	Esophagus	oesophagus
12	chr7:150703600-150705000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150703600-150705000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:150703600-150705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:150703600-150705600	Genic enhancers	Placenta	Placenta
16	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:150703800-150704800	Enhancers	Primary T cells from cord blood	blood
18	chr7:150703800-150705000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:150703800-150705000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:150703800-150705200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:150703800-150705400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:150704000-150704800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150704000-150704800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150704000-150705200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:150704000-150705400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:150704000-150706000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:150704000-150706000	Enhancers	Left Ventricle	heart
28	chr7:150704000-150706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:150704200-150705000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:150704200-150705000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:150704200-150705000	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:150704200-150705600	Enhancers	Right Ventricle	heart
33	chr7:150704200-150706000	Enhancers	Spleen	Spleen
34	chr7:150704200-150706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:150704400-150704800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:150704400-150704800	Enhancers	Right Atrium	heart
38	chr7:150704400-150704800	Enhancers	K562	blood
39	chr7:150704400-150705200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:150704400-150705400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:150704400-150705400	Enhancers	Adipose Nuclei	Adipose
42	chr7:150704400-150705400	Weak transcription	Liver	Liver
43	chr7:150704400-150705600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150704400-150706200	Enhancers	Lung	lung
45	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:150704600-150704800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr7:150704600-150704800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:150704600-150705000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:150704600-150705400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:150704600-150705400	Enhancers	Fetal Thymus	thymus

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