Variant report

Variant	rs58207213
Chromosome Location	chr6:70930802-70930803
allele	-/T
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	chr6:70930476-70931335	A549	lung:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
2	CTCF	chr6:70930747-70930961	A549	lung:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
3	CTCF	chr6:70930800-70930950	HMEC	breast:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
4	CTCF	chr6:70930700-70930850	WI-38	lung:	n/a	n/a
5	CTCF	chr6:70930780-70930930	HRPEpiC	eye:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
6	CTCF	chr6:70930788-70930972	A549	lung:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
7	CTCF	chr6:70930760-70930964	LNCaP	prostate:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
8	CTCF	chr6:70930760-70930910	GM12866	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
9	CTCF	chr6:70930780-70930930	HA-sp	spinal cord:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
10	CTCF	chr6:70930760-70930910	GM12868	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
11	CTCF	chr6:70930800-70930950	Caco-2	colon:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
12	CTCF	chr6:70930740-70930890	HCT-116	colon:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
13	CTCF	chr6:70930787-70930963	GM10266	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
14	CTCF	chr6:70930780-70930930	GM12867	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
15	CTCF	chr6:70930706-70930993	ECC-1	luminal epithelium:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
16	CTCF	chr6:70930780-70930930	HCPEpiC	choroid plexus:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
17	RAD21	chr6:70930775-70931152	MCF-7	breast:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
18	CTCF	chr6:70930786-70930987	Gliobla	brain:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
19	RAD21	chr6:70930707-70931026	SK-N-SH_RA	brain:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
20	CTCF	chr6:70930760-70930910	GM12872	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
21	CTCF	chr6:70930668-70931076	GM12878	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
22	CTCF	chr6:70930740-70930890	GM06990	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
23	CTCF	chr6:70930661-70931095	K562	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
24	CTCF	chr6:70930720-70930870	HMEC	breast:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
25	CTCF	chr6:70930780-70930930	HVMF	connective:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
26	CTCF	chr6:70930740-70930890	AG09309	skin:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
27	MAFK	chr6:70930797-70930978	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr6:70930701-70931137	HCT-116	colon:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
29	CTCF	chr6:70930789-70930982	NHEK	skin:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
30	CTCF	chr6:70930780-70930930	MCF-7	breast:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
31	CTCF	chr6:70930800-70930950	GM12873	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
32	CTCF	chr6:70930780-70930930	AG04449	skin:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
33	CTCF	chr6:70930760-70930910	HMF	breast:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
34	RAD21	chr6:70930724-70931050	K562	blood:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
35	CTCF	chr6:70930780-70930930	Caco-2	colon:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
36	CTCF	chr6:70930780-70930930	BJ	skin:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
37	MAFK	chr6:70930787-70930967	K562	blood:	n/a	n/a
38	CTCF	chr6:70930767-70930916	SK-N-SH_RA	brain:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
39	CTCF	chr6:70930800-70930950	GM12872	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
40	RAD21	chr6:70930687-70931225	MCF-7	breast:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
41	ZNF143	chr6:70930696-70930997	K562	blood:	n/a	n/a
42	CTCF	chr6:70930740-70930890	HL-60	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
43	CTCF	chr6:70930780-70930930	GM12878	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
44	CTCF	chr6:70930760-70930910	HA-sp	spinal cord:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
45	CTCF	chr6:70930720-70930870	NHEK	skin:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
46	CTCF	chr6:70930800-70930950	GM12875	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
47	RAD21	chr6:70930657-70931051	A549	lung:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
48	RAD21	chr6:70930584-70931039	H1-hESC	embryonic stem cell:	n/a	chr6:70930844-70930863 chr6:70930846-70930853
49	CTCF	chr6:70930780-70930930	GM12875	blood:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861
50	CTCF	chr6:70930780-70930930	SK-N-SH_RA	brain:	n/a	chr6:70930845-70930866 chr6:70930848-70930856 chr6:70930843-70930861

No.	Distal block	Cell Line	Cell type
1	chr6:70930597..70933117-chr6:70988758..70990429,2	K562	blood:
2	chr6:70930581..70931580-chr6:71078690..71079470,4	MCF-7	breast:
3	chr6:70930172..70932460-chr6:71107052..71108700,2	K562	blood:
4	chr6:70930395..70931237-chr6:71722269..71722995,2	K562	blood:

Variant related genes	Relation type
ENSG00000253809	TF binding region
ENSG00000112280	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72916001	1.00[AFR][1000 genomes]

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	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:70930000-70932000	Enhancers	Duodenum Mucosa	Duodenum
2	chr6:70930200-70931600	Enhancers	Stomach Mucosa	stomach
3	chr6:70930200-70931800	Enhancers	Fetal Intestine Small	intestine
4	chr6:70930200-70932200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:70930400-70932200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr6:70930800-70931000	Enhancers	HepG2	liver
7	chr6:70930800-70931400	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:70930800-70931800	Enhancers	Liver	Liver

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