Variant report

Variant	rs551398648
Chromosome Location	chr8:47529276-47529277
allele	A/C
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	MYC	chr8:47528094-47529947	K562	blood:	n/a	chr8:47528368-47528377 chr8:47529011-47529021
2	MAX	chr8:47528981-47529410	MCF-7	breast:	n/a	chr8:47529011-47529021
3	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
4	MAZ	chr8:47528573-47529583	K562	blood:	n/a	chr8:47529011-47529021
5	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
6	YY1	chr8:47529150-47529337	K562	blood:	n/a	chr8:47529231-47529240
7	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
8	MYC	chr8:47528521-47529480	K562	blood:	n/a	chr8:47529011-47529021
9	POLR2A	chr8:47528361-47529769	K562	blood:	n/a	n/a
10	TAF1	chr8:47529043-47529333	K562	blood:	n/a	n/a
11	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
12	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
13	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
14	RCOR1	chr8:47528565-47529570	K562	blood:	n/a	n/a
15	POLR2A	chr8:47528982-47529396	K562	blood:	n/a	n/a
16	ZBTB7A	chr8:47529213-47529395	K562	blood:	n/a	n/a
17	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021
18	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
19	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
20	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
21	TBL1XR1	chr8:47529143-47529346	K562	blood:	n/a	n/a
22	POLR2A	chr8:47525211-47529572	K562	blood:	n/a	n/a
23	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
24	MYC	chr8:47528536-47529525	K562	blood:	n/a	chr8:47529011-47529021
25	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a
26	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
27	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
28	POLR2A	chr8:47528822-47529324	K562	blood:	n/a	n/a
29	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
30	MYC	chr8:47529012-47529463	K562	blood:	n/a	n/a
31	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
32	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
33	POLR2A	chr8:47528699-47529463	MCF-7	breast:	n/a	n/a
34	UBTF	chr8:47528521-47529486	K562	blood:	n/a	n/a
35	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
36	MAX	chr8:47528509-47529586	K562	blood:	n/a	chr8:47529011-47529021
37	MYC	chr8:47528940-47529434	MCF-7	breast:	n/a	chr8:47529011-47529021
38	POLR2A	chr8:47528818-47529427	K562	blood:	n/a	n/a
39	RCOR1	chr8:47529059-47529596	K562	blood:	n/a	n/a
40	MYC	chr8:47529032-47529309	MCF-7	breast:	n/a	n/a
41	ZNF384	chr8:47528924-47529771	K562	blood:	n/a	n/a
42	TEAD4	chr8:47528935-47529315	K562	blood:	n/a	n/a
43	POLR2A	chr8:47528438-47529625	K562	blood:	n/a	n/a
44	TAF1	chr8:47529082-47529378	K562	blood:	n/a	n/a
45	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
46	MAX	chr8:47528578-47529775	K562	blood:	n/a	chr8:47529011-47529021
47	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
48	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
49	POLR2A	chr8:47528602-47529443	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:47528994-47529330	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
2	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
3	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
4	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:

Variant related genes	Relation type
ASNSP1	TF binding region
ENSG00000070669	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1031161	chr8:46919261-47743250	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1029976	chr8:46923272-47555196	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1021368	chr8:46923272-47599637	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539581	chr8:46923272-47599637	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1034114	chr8:46923272-47698142	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv539582	chr8:46923272-47698142	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1025020	chr8:46924110-47743250	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv516063	chr8:46942842-47739851	ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1067670	chr8:46942956-47574071	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv529313	chr8:46942956-47574071	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv533858	chr8:46942956-47620905	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1067672	chr8:46942956-47703687	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv532155	chr8:46942956-47703687	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv497819	chr8:46942962-47703693	Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv916550	chr8:46942962-47863337	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv1017335	chr8:47036657-47555196	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv611234	chr8:47060977-47679981	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv465666	chr8:47060977-47739851	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv611235	chr8:47060977-47739851	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1016829	chr8:47083849-47982647	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv465669	chr8:47105157-47947701	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv611241	chr8:47105157-47947701	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv948803	chr8:47190621-47939976	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv1034678	chr8:47199167-47533848	Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv1022097	chr8:47271657-47599637	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
31	nsv1031074	chr8:47399773-47539002	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv831307	chr8:47401773-47595682	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv2757270	chr8:47415180-47565280	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	esv2759609	chr8:47415180-47565280	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv1028494	chr8:47432612-47555196	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
37	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
38	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
39	nsv869142	chr8:47456485-47982673	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
40	nsv1016639	chr8:47459550-47698142	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
41	nsv539590	chr8:47459550-47698142	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
42	nsv831308	chr8:47490970-47684786	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
43	nsv818621	chr8:47516622-47535597	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	nsv8335	chr8:47518615-47568952	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	nsv611304	chr8:47519781-47543932	Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	esv2764081	chr8:47521117-47536546	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
47	esv3481033	chr8:47523487-47530285	Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	esv3481034	chr8:47523487-47530285	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	esv11392	chr8:47523894-47545903	ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	esv3377201	chr8:47524587-47542685	Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47527000-47529400	Active TSS	K562	blood
2	chr8:47528600-47529400	Active TSS	Pancreas	Pancrea
3	chr8:47529200-47529600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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