Variant report

Variant	rs11207179
Chromosome Location	chr1:58716260-58716261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:58715213-58716472	H1-neurons	neurons:	n/a	n/a
2	E2F6	chr1:58714969-58716516	H1-hESC	embryonic stem cell:	n/a	chr1:58715175-58715187 chr1:58715580-58715590 chr1:58715614-58715623 chr1:58715545-58715560 chr1:58715544-58715551
3	CTCF	chr1:58716073-58716363	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr1:58715979-58716321	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr1:58716057-58716307	H1-hESC	embryonic stem cell:	n/a	n/a
6	GABPA	chr1:58715811-58716261	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr1:58715154-58716384	H1-hESC	embryonic stem cell:	n/a	chr1:58715816-58715823 chr1:58715654-58715668
8	RAD21	chr1:58715323-58716470	H1-hESC	embryonic stem cell:	n/a	chr1:58715816-58715823 chr1:58715654-58715668
9	RCOR1	chr1:58716084-58716372	K562	blood:	n/a	n/a
10	CTCF	chr1:58716055-58716394	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr1:58715979-58716526	H1-hESC	embryonic stem cell:	n/a	chr1:58716246-58716257
12	POLR2A	chr1:58715407-58716404	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr1:58716225-58716314	ProgFib	skin:	n/a	n/a
14	POLR2A	chr1:58714651-58716393	H1-neurons	neurons:	n/a	n/a
15	REST	chr1:58715484-58716415	H1-neurons	neurons:	n/a	n/a
16	CTCF	chr1:58716120-58716270	AG09309	skin:	n/a	n/a
17	CTCF	chr1:58716224-58716294	Gliobla	brain:	n/a	n/a
18	CHD2	chr1:58715956-58716418	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:58716260-58716410	HRE	kidney:	n/a	n/a
20	TAF1	chr1:58715899-58716341	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:58715990-58716418	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr1:58715979-58716409	H1-hESC	embryonic stem cell:	n/a	n/a
23	SRF	chr1:58716143-58716339	HepG2	liver:	n/a	n/a
24	MAX	chr1:58715046-58716692	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr1:58715231-58716476	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr1:58716094-58716313	HepG2	liver:	n/a	n/a
27	CTCF	chr1:58716246-58716278	NHEK	skin:	n/a	n/a
28	CTCF	chr1:58715927-58716402	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:58716120-58716270	BJ	skin:	n/a	n/a
30	GATA2	chr1:58715966-58716384	SH-SY5Y	brain:	n/a	n/a
31	KAP1	chr1:58715986-58716465	HEK293	kidney:	n/a	n/a
32	ZNF143	chr1:58716086-58716311	GM12878	blood:	n/a	n/a
33	CTCF	chr1:58716180-58716330	HBMEC	blood vessel:	n/a	n/a
34	YY1	chr1:58716080-58716330	GM12878	blood:	n/a	n/a
35	TBP	chr1:58715907-58716386	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr1:58715956-58716509	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:58716120-58716270	RPTEC	kidney:	n/a	n/a
38	CTCF	chr1:58716240-58716390	GM12864	blood:	n/a	n/a
39	CTCF	chr1:58716200-58716350	HEK293	kidney:	n/a	n/a
40	CTCF	chr1:58716193-58716366	GM12891	blood:	n/a	n/a
41	MAFK	chr1:58716147-58716326	HepG2	liver:	n/a	chr1:58716246-58716257
42	RAD21	chr1:58715838-58716271	SK-N-SH_RA	brain:	n/a	n/a
43	SRF	chr1:58716163-58716306	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:58716010-58716413	H1-hESC	embryonic stem cell:	n/a	n/a
45	RFX5	chr1:58716024-58716396	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr1:58715950-58716481	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:58716260-58716410	GM12875	blood:	n/a	n/a
48	MAX	chr1:58714965-58716774	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr1:58716163-58716330	HepG2	liver:	n/a	n/a
50	CTCF	chr1:58716200-58716350	WERI-Rb-1	eye:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:58716257-58716307	K562	blood:	n/a
2	chr1:58716257-58716307	BE2_C	brain:	n/a
3	chr1:58716257-58716307	Jurkat	blood:	n/a
4	chr1:58716257-58716307	ovcar-3	ovarian:	n/a
5	chr1:58716257-58716307	NHDF-neo	bronchial:	n/a
6	chr1:58716257-58716307	HAEpiC	amniotic membrane:	n/a
7	chr1:58716257-58716307	GM19239	blood:	n/a
8	chr1:58716257-58716307	HCM	heart:	n/a
9	chr1:58716257-58716307	AoSMC	blood vessel:	n/a
10	chr1:58716257-58716307	GM12892	blood:	n/a
11	chr1:58716257-58716307	Caco-2	colon:	n/a
12	chr1:58716257-58716307	A549	lung:	n/a
13	chr1:58716257-58716307	HCF	heart:	n/a
14	chr1:58716257-58716307	CMK	blood:	n/a
15	chr1:58716257-58716307	IMR90	lung:	fetal
16	chr1:58716257-58716307	AG09309	skin:	n/a
17	chr1:58716257-58716307	HRE	kidney:	n/a
18	chr1:58716257-58716307	PANC-1	pancreas:	n/a
19	chr1:58716257-58716307	U87	brain:	n/a
20	chr1:58716257-58716307	H1-hESC	embryonic stem cell:	embryo
21	chr1:58716257-58716307	GM06990	blood:	n/a
22	chr1:58716257-58716307	BJ	skin:	n/a
23	chr1:58716257-58716307	HL-60	blood:	n/a
24	chr1:58716257-58716307	SAEC	small airway:	n/a
25	chr1:58716257-58716307	PrEC	prostate:	n/a
26	chr1:58716257-58716307	GM12891	blood:	n/a
27	chr1:58716257-58716307	HRCEpiC	kidney:	n/a
28	chr1:58716257-58716307	Hela-S3	cervix:	n/a
29	chr1:58716257-58716307	AG04450	lung:	fetal
30	chr1:58716257-58716307	HIPEpiC	eye:	n/a
31	chr1:58716257-58716307	SK-N-SH	brain:	n/a
32	chr1:58716257-58716307	AG04449	skin:	fetal
33	chr1:58716257-58716307	HUVEC	blood vessel:	n/a
34	chr1:58716257-58716307	NT2-D1	testis:	n/a
35	chr1:58716257-58716307	RPTEC	kidney:	n/a
36	chr1:58716257-58716307	HEK293	kidney:	embryo
37	chr1:58716257-58716307	SK-N-MC	brain:	n/a
38	chr1:58716257-58716307	AG10803	skin:	n/a
39	chr1:58716257-58716307	HCT-116	colon:	n/a
40	chr1:58716257-58716307	HEEpiC	esophagus:	n/a
41	chr1:58716257-58716307	Hepatocyte	liver:	n/a
42	chr1:58716257-58716307	ECC-1	luminal epithelium:	n/a
43	chr1:58716257-58716307	SKMC	muscle:	n/a
44	chr1:58716257-58716307	MCF10A-Er-Src	breast:	n/a
45	chr1:58716257-58716307	HRPEpiC	eye:	n/a
46	chr1:58716257-58716307	ProgFib	skin:	n/a
47	chr1:58716257-58716307	HCPEpiC	choroid plexus:	n/a
48	chr1:58716257-58716307	PFSK-1	brain:	n/a
49	chr1:58716257-58716307	NB4	blood:	n/a
50	chr1:58716257-58716307	NH-A	brain:	n/a

No data

Variant related genes	Relation type
DAB1	TF binding region
DAB1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11207180	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12083021	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1213733	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs481109	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs490671	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs519855	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs528375	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs545696	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs552352	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs553382	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556865	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs580062	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs583128	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs600438	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs624929	0.82[AMR][1000 genomes]
rs635459	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649826	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651663	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664999	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs666435	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6668411	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs912502	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436173	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9436585	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv546307	chr1:58707111-58733050	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546308	chr1:58714427-58743499	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58713000-58716800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr1:58714400-58716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:58714600-58716400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:58714600-58716400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:58714800-58716400	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:58714800-58716600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:58715000-58716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:58715000-58716400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr1:58715000-58716600	Active TSS	Fetal Brain Female	brain
11	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:58715200-58716400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:58715200-58716400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr1:58715400-58716400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:58715400-58716400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:58715400-58716400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:58715400-58716400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:58715400-58716400	Enhancers	Gastric	stomach
20	chr1:58715400-58716600	Enhancers	Fetal Brain Male	brain
21	chr1:58715600-58716400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:58715600-58716400	Active TSS	Primary T cells from cord blood	blood
23	chr1:58715600-58716400	Bivalent Enhancer	Esophagus	oesophagus
24	chr1:58715800-58716400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:58715800-58716400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:58715800-58716400	Bivalent Enhancer	Lung	lung
27	chr1:58715800-58716400	Bivalent/Poised TSS	Osteobl	bone
28	chr1:58716000-58716400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:58716000-58716400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:58716000-58716400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr1:58716000-58716400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:58716000-58716400	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr1:58716000-58718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:58716200-58716400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr1:58716200-58716400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:58716200-58716400	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:58716200-58716400	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
38	chr1:58716200-58716400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:58716200-58716400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:58716200-58716400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:58716200-58716400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:58716200-58716400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:58716200-58716400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
44	chr1:58716200-58716400	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr1:58716200-58716400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr1:58716200-58716400	Enhancers	Brain Hippocampus Middle	brain
47	chr1:58716200-58716400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:58716200-58716400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr1:58716200-58716400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr1:58716200-58716400	Enhancers	Ovary	ovary

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