Variant report

Variant	rs571472264
Chromosome Location	chr7:126090430-126090431
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	CHD1	chr7:126089898-126091153	GM12878	blood:	n/a	n/a
2	RCOR1	chr7:126089872-126090896	GM12878	blood:	n/a	n/a
3	USF2	chr7:126090198-126090837	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:126090365-126090629	GM12878	blood:	n/a	n/a
5	MXI1	chr7:126089861-126091207	GM12878	blood:	n/a	n/a
6	POU2F2	chr7:126090207-126090768	GM12878	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
7	BCLAF1	chr7:126090235-126090798	GM12878	blood:	n/a	n/a
8	BCLAF1	chr7:126090272-126090898	GM12878	blood:	n/a	n/a
9	EP300	chr7:126090040-126091318	GM12878	blood:	n/a	chr7:126090622-126090636
10	WRNIP1	chr7:126090016-126090959	GM12878	blood:	n/a	n/a
11	EP300	chr7:126089804-126091145	GM12878	blood:	n/a	chr7:126090622-126090636
12	POLR2A	chr7:126090130-126090706	GM12878	blood:	n/a	n/a
13	MEF2A	chr7:126090266-126090889	GM12878	blood:	n/a	chr7:126090682-126090697
14	MAX	chr7:126090243-126091347	GM12878	blood:	n/a	chr7:126090390-126090403 chr7:126090392-126090401 chr7:126090390-126090403 chr7:126090391-126090402
15	POU2F2	chr7:126090375-126090642	GM12891	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
16	MTA3	chr7:126090071-126090816	GM12878	blood:	n/a	n/a
17	RUNX3	chr7:126090078-126091007	GM12878	blood:	n/a	n/a
18	NFIC	chr7:126090200-126091065	GM12878	blood:	n/a	n/a
19	TAF1	chr7:126090317-126090656	GM12878	blood:	n/a	n/a
20	STAT1	chr7:126090207-126090667	GM12878	blood:	n/a	n/a
21	CHD2	chr7:126089964-126090744	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:126090148-126090713	Raji	blood:	n/a	n/a
23	RUNX3	chr7:126090298-126090936	GM12878	blood:	n/a	n/a
24	POU2F2	chr7:126090249-126090754	GM12891	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
25	POU2F2	chr7:126090369-126090690	GM12878	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
26	ELF1	chr7:126090315-126090713	GM12878	blood:	n/a	chr7:126090571-126090582
27	POLR2A	chr7:126090192-126090811	GM12892	blood:	n/a	n/a
28	ZNF384	chr7:126089878-126090959	GM12878	blood:	n/a	n/a
29	EP300	chr7:126090280-126090687	GM12878	blood:	n/a	chr7:126090622-126090636
30	BHLHE40	chr7:126089835-126090907	GM12878	blood:	n/a	n/a
31	SP1	chr7:126090146-126090691	GM12878	blood:	n/a	n/a
32	TBP	chr7:126090164-126091032	GM12878	blood:	n/a	n/a
33	NFE2	chr7:126090274-126090474	GM12878	blood:	n/a	chr7:126090392-126090401
34	EBF1	chr7:126090251-126090866	GM12878	blood:	n/a	n/a
35	NFYB	chr7:126090075-126090934	GM12878	blood:	n/a	chr7:126090487-126090500
36	NFIC	chr7:126090255-126090859	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429810	chr7:125488049-126131049	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1023465	chr7:125873329-126191422	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1033349	chr7:126010250-126168918	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv971187	chr7:126090098-126101043	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126088600-126091000	Enhancers	HSMMtube	muscle
2	chr7:126089200-126091000	Enhancers	Fetal Lung	lung
3	chr7:126089800-126090600	Enhancers	Fetal Intestine Large	intestine
4	chr7:126089800-126090600	Enhancers	NH-A	brain
5	chr7:126089800-126091000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr7:126089800-126091400	Flanking Active TSS	GM12878-XiMat	blood
7	chr7:126090200-126090600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:126090400-126091400	Enhancers	Fetal Heart	heart

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