Variant report

Variant	rs17472147
Chromosome Location	chr7:27204239-27204240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:27203875-27204246	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF143	chr7:27203959-27204484	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:27203193-27205459	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr7:27203932-27205359	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:27203719-27204591	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:27203931-27205308	HUVEC	blood vessel:	n/a	n/a
7	SUZ12	chr7:27203385-27210188	NT2-D1	testis:	n/a	n/a
8	POLR2A	chr7:27203115-27206230	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr7:27204120-27205678	HCT-116	colon:	n/a	n/a
10	HMGN3	chr7:27204131-27204422	K562	blood:	n/a	n/a
11	POLR2A	chr7:27203923-27207102	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:27204155-27204664	HCT-116	colon:	n/a	n/a
13	POLR2A	chr7:27203725-27205875	HUVEC	blood vessel:	n/a	n/a
14	ZNF263	chr7:27203441-27206899	HEK293-T-REx	kidney:	n/a	chr7:27203686-27203707 chr7:27206396-27206405
15	CTCF	chr7:27204000-27204270	HRE	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27202105..27204960-chr7:27220530..27223472,3	MCF-7	breast:
2	chr7:27202891..27205946-chr7:27211956..27215443,3	MCF-7	breast:
3	7:27162022-27164727..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
4	chr16:9057475..9058449-chr7:27204192..27204953,2	HCT-116	colon:
5	7:27061277-27071265..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
6	chr7:27203892..27207242-chr7:27209723..27213341,3	MCF-7	breast:
7	7:27203007-27207968..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
HOXA10-AS	TF binding region
ENSG00000253552	Chromatin interaction
ENSG00000214869	Chromatin interaction
ENSG00000187555	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000253293	Chromatin interaction
ENSG00000266055	Chromatin interaction
ENSG00000078399	Chromatin interaction
ENSG00000257184	Chromatin interaction
ENSG00000253508	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17465372	0.84[EUR][1000 genomes]
rs17471888	0.84[EUR][1000 genomes]
rs17472077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17500564	0.84[EUR][1000 genomes]
rs17500674	0.84[EUR][1000 genomes]
rs17500863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17500987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59240463	0.84[EUR][1000 genomes]
rs73288602	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73290304	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290307	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290322	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290324	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
12	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
13	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
14	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
15	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
18	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
20	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
21	nsv1033316	chr7:27140645-27237951	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv606465	chr7:27143757-27229549	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	174 gene(s)	inside rSNPs	diseases
23	nsv887875	chr7:27145100-27243962	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
24	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
25	nsv824042	chr7:27169231-27247232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
26	nsv887877	chr7:27169388-27217359	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
27	nsv887878	chr7:27175295-27214557	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
28	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
29	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
30	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
31	esv1825750	chr7:27200918-27227027	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
32	nsv606468	chr7:27202289-27281304	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27199600-27206400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:27200000-27204400	Active TSS	Colon Smooth Muscle	Colon
3	chr7:27200000-27206000	Active TSS	NHDF-Ad	bronchial
4	chr7:27201200-27207400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:27201600-27205000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:27201600-27205200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr7:27202800-27209600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr7:27202800-27214400	Active TSS	Psoas Muscle	Psoas
9	chr7:27203000-27204800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:27203000-27205000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:27203000-27207000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr7:27203000-27208800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:27203000-27209200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:27203200-27204400	Bivalent Enhancer	Fetal Thymus	thymus
15	chr7:27203200-27205000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr7:27203400-27204400	Flanking Active TSS	HMEC	breast
17	chr7:27203400-27204800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:27203400-27205400	Active TSS	HUVEC	blood vessel
19	chr7:27203600-27204800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:27203600-27204800	Bivalent Enhancer	Liver	Liver
21	chr7:27203600-27205000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:27203600-27205800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:27203600-27205800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:27203600-27207000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr7:27203600-27211000	Active TSS	HSMM	muscle
26	chr7:27203800-27204600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr7:27203800-27204600	Active TSS	Lung	lung
28	chr7:27203800-27204600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr7:27203800-27204800	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr7:27203800-27205000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr7:27203800-27205000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:27203800-27205000	Bivalent Enhancer	Fetal Lung	lung
33	chr7:27203800-27205200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr7:27203800-27205200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:27203800-27205600	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr7:27203800-27205800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr7:27203800-27206000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr7:27203800-27206000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:27203800-27206600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr7:27203800-27206600	Active TSS	HSMMtube	muscle
41	chr7:27203800-27206800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:27203800-27207000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:27203800-27207000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr7:27203800-27207200	Bivalent/Poised TSS	Small Intestine	intestine
45	chr7:27203800-27211200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:27204000-27204400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:27204000-27204400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:27204000-27204400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr7:27204000-27204400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr7:27204000-27204400	Bivalent/Poised TSS	HepG2	liver

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