Variant report

Variant	rs72667231
Chromosome Location	chr8:103932875-103932876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:103932850-103932913	Gliobla	brain:	n/a	n/a
2	CTCF	chr8:103932809-103932969	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:103932717-103932991	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:103932860-103933010	GM12873	blood:	n/a	n/a
5	YY1	chr8:103932527-103933007	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:103932780-103932930	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr8:103932800-103932950	K562	blood:	n/a	n/a
8	RAD21	chr8:103932685-103933070	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:103932760-103932910	AG04450	lung:	n/a	n/a
10	CTCF	chr8:103932780-103932930	AG04450	lung:	n/a	n/a
11	CTCF	chr8:103932740-103932890	GM12878	blood:	n/a	n/a
12	CTCF	chr8:103932820-103932970	HCM	heart:	n/a	n/a
13	CTCF	chr8:103932740-103932890	HCM	heart:	n/a	n/a
14	CTCF	chr8:103932820-103932970	NHLF	lung:	n/a	n/a
15	CTCF	chr8:103932680-103932950	GM12870	blood:	n/a	n/a
16	CTCF	chr8:103932870-103932940	K562	blood:	n/a	n/a
17	CTCF	chr8:103932750-103933028	IMR90	lung:	n/a	n/a
18	CTCF	chr8:103932740-103932890	HPF	lung:	n/a	n/a
19	CTCF	chr8:103932800-103932950	AG09319	gingival:	n/a	n/a
20	RAD21	chr8:103932740-103933023	IMR90	lung:	n/a	n/a
21	YY1	chr8:103932401-103932919	GM12878	blood:	n/a	n/a
22	CTCF	chr8:103932748-103933031	K562	blood:	n/a	n/a
23	CTCF	chr8:103932780-103932930	K562	blood:	n/a	n/a
24	CTCF	chr8:103932823-103932961	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr8:103932780-103932930	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr8:103932740-103932890	GM12869	blood:	n/a	n/a
27	RAD21	chr8:103932544-103933165	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:103932735-103933027	GM12878	blood:	n/a	n/a
29	CTCF	chr8:103932820-103932970	A549	lung:	n/a	n/a
30	CTCF	chr8:103932800-103932950	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr8:103932820-103932970	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr8:103932800-103932950	GM12878	blood:	n/a	n/a
33	HCFC1	chr8:103932829-103932904	K562	blood:	n/a	n/a
34	CTCF	chr8:103932760-103932910	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr8:103932820-103932970	BE2_C	brain:	n/a	n/a
36	CTCF	chr8:103932854-103932913	GM13976	blood:	n/a	n/a
37	CTCF	chr8:103932800-103932950	WI-38	lung:	n/a	n/a
38	CTCF	chr8:103932800-103932950	GM12864	blood:	n/a	n/a
39	CTCF	chr8:103932841-103932928	GM12891	blood:	n/a	n/a
40	CTCF	chr8:103932740-103932890	GM06990	blood:	n/a	n/a
41	ZNF143	chr8:103932867-103932977	GM12878	blood:	n/a	n/a
42	CTCF	chr8:103932760-103932910	HVMF	connective:	n/a	n/a
43	CTCF	chr8:103932800-103932950	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr8:103932780-103932930	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr8:103932875-103932937	HepG2	liver:	n/a	n/a
46	CTCF	chr8:103932780-103932930	HMF	breast:	n/a	n/a
47	RAD21	chr8:103932732-103932926	K562	blood:	n/a	n/a
48	CTCF	chr8:103932819-103932928	Fibrobl	skin:	n/a	n/a
49	CTCF	chr8:103932780-103932930	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr8:103932800-103932950	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103931524..103933304-chr8:104018085..104019856,2	K562	blood:
2	chr8:103875028..103877482-chr8:103931087..103934755,3	MCF-7	breast:
3	chr8:103926652..103929593-chr8:103930931..103933539,2	K562	blood:
4	chr8:103874643..103877584-chr8:103931125..103934060,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3808542	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60470921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72667203	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667206	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667212	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667217	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667221	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667222	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667223	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667224	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667225	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667226	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667258	0.85[AMR][1000 genomes]
rs72667261	0.85[AMR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686930	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686931	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686935	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
2	chr8:103926400-103937400	Weak transcription	Lung	lung
3	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103928800-103933400	Enhancers	A549	lung
7	chr8:103929200-103933600	Enhancers	Fetal Heart	heart
8	chr8:103929200-103934800	Enhancers	Liver	Liver
9	chr8:103929400-103933000	Enhancers	Pancreas	Pancrea
10	chr8:103929400-103934600	Enhancers	Adipose Nuclei	Adipose
11	chr8:103929600-103934600	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:103929800-103933000	Enhancers	Fetal Brain Male	brain
13	chr8:103929800-103934200	Enhancers	Hela-S3	cervix
14	chr8:103930000-103938000	Weak transcription	Gastric	stomach
15	chr8:103931000-103933000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:103931000-103933400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:103931000-103935000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:103931200-103933000	Enhancers	Right Atrium	heart
19	chr8:103931200-103933200	Enhancers	Ovary	ovary
20	chr8:103931200-103933400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:103931200-103936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:103931400-103936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:103931600-103933000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:103931600-103933000	Enhancers	Fetal Stomach	stomach
25	chr8:103931800-103933000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103931800-103933600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:103931800-103934000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
30	chr8:103932000-103933000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:103932000-103933000	Enhancers	GM12878-XiMat	blood
32	chr8:103932000-103934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:103932000-103936800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:103932000-103937200	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:103932200-103933400	Enhancers	Fetal Intestine Small	intestine
37	chr8:103932200-103933600	Enhancers	Osteobl	bone
38	chr8:103932200-103936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
40	chr8:103932400-103933000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:103932400-103933200	Enhancers	Fetal Intestine Large	intestine
42	chr8:103932400-103933400	Enhancers	Stomach Mucosa	stomach
43	chr8:103932400-103937000	Weak transcription	Aorta	Aorta
44	chr8:103932400-103937200	Weak transcription	Placenta	Placenta
45	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:103932600-103933000	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:103932600-103933000	Enhancers	Fetal Muscle Leg	muscle
48	chr8:103932600-103933000	Weak transcription	Right Ventricle	heart
49	chr8:103932600-103933200	Enhancers	Psoas Muscle	Psoas
50	chr8:103932600-103933400	Enhancers	Rectal Mucosa Donor 31	rectum

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