Variant report

Variant	rs564938711
Chromosome Location	chr7:106719236-106719237
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	GATA1	chr7:106718699-106720303	PBDE	blood:	n/a	chr7:106719817-106719827 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106719819-106719826 chr7:106719430-106719439
2	YY1	chr7:106718793-106719397	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr7:106718702-106720226	SH-SY5Y	brain:	n/a	chr7:106719817-106719827 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106719819-106719826 chr7:106719430-106719439
4	POLR2A	chr7:106718946-106719486	K562	blood:	n/a	n/a
5	CEBPD	chr7:106718994-106720340	K562	blood:	n/a	n/a
6	FOSL1	chr7:106718729-106719338	HCT-116	colon:	n/a	n/a
7	JUND	chr7:106718603-106720334	K562	blood:	n/a	n/a
8	TEAD4	chr7:106718570-106721499	K562	blood:	n/a	n/a
9	TBP	chr7:106719182-106719391	K562	blood:	n/a	n/a
10	EP300	chr7:106718659-106720387	K562	blood:	n/a	chr7:106720298-106720312
11	TAL1	chr7:106719234-106720254	K562	blood:	n/a	chr7:106720072-106720080
12	POLR2A	chr7:106718952-106719241	HUVEC	blood vessel:	n/a	n/a
13	GATA2	chr7:106718888-106720360	K562	blood:	n/a	chr7:106719817-106719827 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106719819-106719826 chr7:106719430-106719439
14	TCF12	chr7:106718733-106719519	SK-N-SH	brain:	n/a	chr7:106719115-106719124 chr7:106719200-106719208
15	CEBPB	chr7:106718594-106719936	K562	blood:	n/a	chr7:106719442-106719459 chr7:106719125-106719138
16	POLR2A	chr7:106718679-106719462	HUVEC	blood vessel:	n/a	n/a
17	STAT5A	chr7:106718877-106720465	K562	blood:	n/a	n/a
18	FOXA2	chr7:106718865-106719249	A549	lung:	n/a	n/a
19	POLR2A	chr7:106718909-106719316	HUVEC	blood vessel:	n/a	n/a
20	TBL1XR1	chr7:106719052-106719514	K562	blood:	n/a	n/a
21	ARID3A	chr7:106718750-106720391	K562	blood:	n/a	n/a
22	POLR2A	chr7:106718558-106720235	K562	blood:	n/a	n/a
23	TEAD4	chr7:106719002-106719306	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr7:106718587-106719390	IMR90	lung:	n/a	n/a
25	TBL1XR1	chr7:106719086-106720503	K562	blood:	n/a	n/a
26	FOSL2	chr7:106718724-106719411	SK-N-SH	brain:	n/a	n/a
27	CBX3	chr7:106718522-106720646	K562	blood:	n/a	n/a
28	CEBPB	chr7:106718436-106719555	K562	blood:	n/a	chr7:106719442-106719459 chr7:106719125-106719138
29	GATA1	chr7:106718493-106722997	K562	blood:	n/a	chr7:106719817-106719827 chr7:106722555-106722563 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106721892-106721899 chr7:106719819-106719826 chr7:106720707-106720717 chr7:106719430-106719439
30	NFIC	chr7:106718523-106719537	SK-N-SH	brain:	n/a	n/a
31	TEAD4	chr7:106718868-106720481	K562	blood:	n/a	n/a
32	NFIC	chr7:106718782-106719354	SK-N-SH	brain:	n/a	n/a
33	GATA2	chr7:106718750-106720489	HUVEC	blood vessel:	n/a	chr7:106719817-106719827 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106719819-106719826 chr7:106719430-106719439
34	GATA3	chr7:106718697-106719582	SK-N-SH	brain:	n/a	chr7:106718961-106718982 chr7:106719430-106719439
35	SMARCB1	chr7:106718816-106720132	K562	blood:	n/a	n/a
36	RAD21	chr7:106718966-106719408	SK-N-SH_RA	brain:	n/a	n/a
37	GATA3	chr7:106718901-106719986	SH-SY5Y	brain:	n/a	chr7:106719817-106719827 chr7:106719819-106719826 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106718961-106718982 chr7:106719819-106719826 chr7:106719430-106719439
38	PML	chr7:106719013-106720437	K562	blood:	n/a	n/a
39	RAD21	chr7:106718902-106719294	SK-N-SH_RA	brain:	n/a	n/a
40	NR2F2	chr7:106718494-106720492	K562	blood:	n/a	n/a
41	POLR2A	chr7:106718859-106719401	SK-N-SH	brain:	n/a	n/a
42	EP300	chr7:106718855-106719442	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr7:106718611-106720469	HUVEC	blood vessel:	n/a	n/a
44	FOS	chr7:106718853-106719253	MCF10A-Er-Src	breast:	n/a	chr7:106719017-106719028
45	EP300	chr7:106718917-106719390	SK-N-SH_RA	brain:	n/a	n/a
46	FOS	chr7:106718726-106719259	HUVEC	blood vessel:	n/a	chr7:106719017-106719028
47	MAZ	chr7:106718749-106720343	K562	blood:	n/a	n/a
48	SMARCA4	chr7:106718838-106720136	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000243193	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106706400-106720000	Weak transcription	Spleen	Spleen
2	chr7:106710200-106720000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:106716000-106721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:106716000-106721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:106717600-106722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:106717800-106721200	Enhancers	Adipose Nuclei	Adipose
7	chr7:106718000-106720800	Enhancers	Left Ventricle	heart
8	chr7:106718000-106730600	Weak transcription	Fetal Brain Female	brain
9	chr7:106718200-106720000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:106718400-106719400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:106718400-106719800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:106718600-106721000	Enhancers	Fetal Heart	heart
13	chr7:106718800-106719400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:106718800-106719400	Enhancers	A549	lung
15	chr7:106718800-106720000	Flanking Active TSS	HUVEC	blood vessel
16	chr7:106718800-106720400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:106718800-106720600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:106718800-106720800	Enhancers	Lung	lung
19	chr7:106718800-106721200	Transcr. at gene 5' and 3'	K562	blood
20	chr7:106718800-106727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:106719000-106719400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:106719000-106719400	Enhancers	Brain Anterior Caudate	brain
23	chr7:106719000-106719800	Enhancers	Brain Germinal Matrix	brain
24	chr7:106719000-106720800	Weak transcription	Gastric	stomach
25	chr7:106719000-106721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:106719200-106719400	Enhancers	Brain Substantia Nigra	brain
27	chr7:106719200-106719400	Enhancers	Fetal Brain Male	brain
28	chr7:106719200-106719400	Enhancers	Fetal Stomach	stomach
29	chr7:106719200-106719600	Enhancers	Ovary	ovary
30	chr7:106719200-106719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:106719200-106720800	Enhancers	Right Ventricle	heart

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