Variant report

Variant	rs560006848
Chromosome Location	chr16:71401606-71401607
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	CTCF	chr16:71401342-71401624	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
2	CTCF	chr16:71401322-71401647	GM19239	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
3	RAD21	chr16:71401302-71401652	Hela-S3	cervix:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
4	YY1	chr16:71401356-71401621	GM12878	blood:	n/a	n/a
5	CTCF	chr16:71401376-71401606	LNCaP	prostate:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
6	RAD21	chr16:71401323-71401689	A549	lung:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
7	CTCF	chr16:71401151-71401754	HCT-116	colon:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
8	GTF2F1	chr16:71401445-71401653	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr16:71401306-71401641	HepG2	liver:	n/a	chr16:71401475-71401489 chr16:71401475-71401485
10	CTCF	chr16:71401306-71401611	HepG2	liver:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
11	RAD21	chr16:71401264-71401659	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
12	MAZ	chr16:71401197-71401660	K562	blood:	n/a	n/a
13	CTCF	chr16:71401500-71401650	HAc	cerebellar:	n/a	n/a
14	CTCF	chr16:71401334-71401627	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
15	CTCF	chr16:71401308-71401648	IMR90	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
16	SIN3A	chr16:71401306-71401662	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr16:71401335-71401665	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr16:71401274-71401687	K562	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
19	RAD21	chr16:71401256-71401671	SK-N-SH_RA	brain:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
20	SMC3	chr16:71401168-71401775	SK-N-SH	brain:	n/a	chr16:71401475-71401489 chr16:71401475-71401485
21	CTCF	chr16:71401361-71401629	Medullo	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
22	ZNF143	chr16:71401255-71401666	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUN	chr16:71400979-71401761	K562	blood:	n/a	n/a
24	CTCF	chr16:71401368-71401670	A549	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
25	CTCF	chr16:71401340-71401624	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
26	MAX	chr16:71401188-71401638	K562	blood:	n/a	n/a
27	CTCF	chr16:71401319-71401635	GM12892	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
28	CTCF	chr16:71401333-71401632	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
29	SMC3	chr16:71401328-71401649	Hela-S3	cervix:	n/a	chr16:71401475-71401489 chr16:71401475-71401485
30	RAD21	chr16:71401233-71401698	ECC-1	luminal epithelium:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
31	CTCF	chr16:71401354-71401647	GM13977	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
32	RCOR1	chr16:71401075-71401659	K562	blood:	n/a	n/a
33	MYC	chr16:71401237-71401629	K562	blood:	n/a	n/a
34	CTCF	chr16:71401314-71401653	GM19238	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
35	CTCF	chr16:71401358-71401609	HUVEC	blood vessel:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
36	TEAD4	chr16:71401171-71401610	K562	blood:	n/a	n/a
37	CTCF	chr16:71401412-71401613	Spleen_OC	spleen:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
38	CTCF	chr16:71401317-71401629	MCF-7	breast:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
39	CTCF	chr16:71401235-71401662	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
40	RAD21	chr16:71401169-71401740	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
41	USF2	chr16:71401598-71401613	HepG2	liver:	n/a	n/a
42	RAD21	chr16:71401088-71401790	HCT-116	colon:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
43	CTCF	chr16:71401316-71401642	Gliobla	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
44	RAD21	chr16:71401181-71401761	MCF-7	breast:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
45	RAD21	chr16:71401316-71401638	HepG2	liver:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
46	CTCF	chr16:71401345-71401621	GM12878	blood:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
47	CTCF	chr16:71401460-71401610	AG04450	lung:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
48	RAD21	chr16:71401235-71401692	H1-hESC	embryonic stem cell:	n/a	chr16:71401473-71401485 chr16:71401471-71401490
49	CTCF	chr16:71401332-71401633	NHEK	skin:	n/a	chr16:71401473-71401491 chr16:71401474-71401490
50	CTCF	chr16:71401076-71401889	SK-N-SH	brain:	n/a	chr16:71401473-71401491 chr16:71401474-71401490

No.	Distal block	Cell Line	Cell type
1	chr16:71033342..71034367-chr16:71401264..71401962,5	MCF-7	breast:
2	chr16:71033616..71034231-chr16:71400920..71401907,2	MCF-7	breast:
3	chr16:71400999..71401956-chr16:71445867..71446859,3	K562	blood:
4	chr16:71400881..71402032-chr16:71446303..71446913,3	MCF-7	breast:
5	chr16:71400154..71401758-chr16:71407652..71409706,2	MCF-7	breast:
6	chr16:71391648..71392912-chr16:71401086..71401951,3	MCF-7	breast:

Variant related genes	Relation type
CALB2	TF binding region
ENSG00000172137	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv984242	chr16:71401590-71404832	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71398200-71407000	Weak transcription	Right Atrium	heart
2	chr16:71398800-71419800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:71399600-71405200	Weak transcription	Adipose Nuclei	Adipose
4	chr16:71401200-71401800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:71401200-71402200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71401600-71401800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr16:71401600-71402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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