Variant report

Variant	rs72859810
Chromosome Location	chr4:78274975-78274976
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	CTCF	chr4:78274944-78275280	GM12892	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
2	CTCF	chr4:78274880-78275030	MCF-7	breast:	n/a	n/a
3	CTCF	chr4:78274840-78274990	K562	blood:	n/a	n/a
4	CTCF	chr4:78274970-78275233	GM10266	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
5	CTCF	chr4:78274956-78275321	MCF-7	breast:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
6	CTCF	chr4:78274840-78274990	NHLF	lung:	n/a	n/a
7	CTCF	chr4:78274880-78275030	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr4:78274860-78275010	GM12864	blood:	n/a	n/a
9	CTCF	chr4:78274860-78275010	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:78274860-78275010	BJ	skin:	n/a	n/a
11	CTCF	chr4:78274860-78275010	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr4:78274972-78275256	GM13977	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
13	CTCF	chr4:78274840-78274990	HCM	heart:	n/a	n/a
14	CTCF	chr4:78274971-78275230	Kidney_OC	kidney:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
15	CTCF	chr4:78274929-78275291	Gliobla	brain:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
16	CTCF	chr4:78274948-78275275	ProgFib	skin:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
17	CTCF	chr4:78274840-78274990	HMF	breast:	n/a	n/a
18	CTCF	chr4:78274840-78274990	A549	lung:	n/a	n/a
19	CTCF	chr4:78274840-78274990	RPTEC	kidney:	n/a	n/a
20	CTCF	chr4:78274927-78275254	K562	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
21	CTCF	chr4:78274931-78275251	K562	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
22	CTCF	chr4:78274932-78275286	GM19238	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
23	CTCF	chr4:78274860-78275010	GM12872	blood:	n/a	n/a
24	CTCF	chr4:78274860-78275010	GM12875	blood:	n/a	n/a
25	CTCF	chr4:78274860-78275010	GM12870	blood:	n/a	n/a
26	CTCF	chr4:78274870-78275069	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr4:78274880-78275030	WI-38	lung:	n/a	n/a
28	CTCF	chr4:78274860-78275010	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr4:78274860-78275010	RPTEC	kidney:	n/a	n/a
30	CTCF	chr4:78274860-78275010	HVMF	connective:	n/a	n/a
31	CTCF	chr4:78274840-78274990	AG04450	lung:	n/a	n/a
32	CTCF	chr4:78274840-78274990	AG09319	gingival:	n/a	n/a
33	CTCF	chr4:78274956-78275251	Hela-S3	cervix:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
34	CTCF	chr4:78274932-78275294	A549	lung:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
35	CTCF	chr4:78274840-78274990	GM12873	blood:	n/a	n/a
36	CTCF	chr4:78274860-78275010	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr4:78274971-78275162	K562	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
38	CTCF	chr4:78274969-78275267	HUVEC	blood vessel:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
39	CTCF	chr4:78274961-78275275	H1-hESC	embryonic stem cell:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
40	CTCF	chr4:78274840-78274990	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr4:78274860-78275010	HCT-116	colon:	n/a	n/a
42	CTCF	chr4:78274860-78275010	SAEC	small airway:	n/a	n/a
43	CTCF	chr4:78274860-78275010	AG09309	skin:	n/a	n/a
44	CTCF	chr4:78274957-78275243	Spleen_OC	spleen:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
45	CTCF	chr4:78274840-78274990	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr4:78274860-78275010	GM12878	blood:	n/a	n/a
47	CTCF	chr4:78274860-78275010	GM06990	blood:	n/a	n/a
48	CTCF	chr4:78274934-78275279	GM19240	blood:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
49	CTCF	chr4:78274946-78275283	Fibrobl	skin:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119
50	CTCF	chr4:78274885-78275275	A549	lung:	n/a	chr4:78275103-78275121 chr4:78275105-78275126 chr4:78275106-78275119

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78270382..78272050-chr4:78274178..78276131,2	K562	blood:

Variant related genes	Relation type
ENSG00000248831	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17002614	0.90[AFR][1000 genomes]
rs17002698	1.00[AMR][1000 genomes]
rs2099872	1.00[AMR][1000 genomes]
rs28715173	0.91[AFR][1000 genomes]
rs4643843	0.91[AFR][1000 genomes]
rs58763343	0.91[AFR][1000 genomes]
rs61169633	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61199593	1.00[AMR][1000 genomes]
rs61269240	0.81[AFR][1000 genomes]
rs61389038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850445	0.80[AFR][1000 genomes]
rs72863293	1.00[AMR][1000 genomes]
rs72866414	1.00[AMR][1000 genomes]
rs72866423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866440	1.00[AMR][1000 genomes]
rs72866482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872063	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7672906	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1002683	chr4:78170317-78281331	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1000447	chr4:78191608-78291173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3468255	chr4:78237484-78277631	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv5935	chr4:78237568-78277734	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3468256	chr4:78237627-78277552	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1000392	chr4:78273146-78301467	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1011607	chr4:78273146-78302096	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78271800-78276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:78272000-78276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78272000-78277000	Weak transcription	HMEC	breast
4	chr4:78273800-78277000	Weak transcription	Fetal Heart	heart

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