Variant report

Variant	rs17501822
Chromosome Location	chr7:27283706-27283707
allele	C/G
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	SUZ12	chr7:27280823-27287156	NT2-D1	testis:	n/a	n/a
2	SUZ12	chr7:27281809-27287391	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr7:27283540-27283882	H1-hESC	embryonic stem cell:	n/a	chr7:27283654-27283663 chr7:27283614-27283625
4	CTBP2	chr7:27282140-27284056	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27230275-27238414..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
EVX1	TF binding region
ENSG00000253308	TF binding region
EVX1-AS	TF binding region
ENSG00000253508	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000243766	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11563587	0.89[YRI][hapmap];0.92[AFR][1000 genomes]
rs11764513	1.00[JPT][hapmap]
rs12700794	1.00[JPT][hapmap]
rs17472742	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17472770	0.84[AFR][1000 genomes]
rs17472899	0.98[AFR][1000 genomes]
rs17472913	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs17472990	0.89[YRI][hapmap]
rs17473032	0.92[AFR][1000 genomes]
rs17473046	0.83[AFR][1000 genomes]
rs17473053	1.00[AFR][1000 genomes]
rs17473067	1.00[AFR][1000 genomes]
rs17501801	1.00[AFR][1000 genomes]
rs17501843	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs17501878	1.00[AFR][1000 genomes]
rs17501898	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
18	nsv1026327	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak 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	130 gene(s)	inside rSNPs	diseases
19	nsv538808	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
20	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
21	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
23	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27278800-27285000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:27280000-27285600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr7:27282000-27285000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr7:27282000-27285400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:27282200-27286200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
6	chr7:27282600-27283800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:27282800-27283800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:27282800-27283800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
9	chr7:27282800-27283800	Bivalent Enhancer	Placenta	Placenta
10	chr7:27282800-27284600	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr7:27283200-27283800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:27283200-27283800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
13	chr7:27283200-27285600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:27283400-27283800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:27283400-27283800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:27283400-27283800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr7:27283400-27284400	Weak transcription	Right Atrium	heart
18	chr7:27283400-27284600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:27283400-27284600	Weak transcription	Gastric	stomach
20	chr7:27283400-27284600	Weak transcription	Pancreas	Pancrea
21	chr7:27283600-27283800	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr7:27283600-27283800	Bivalent Enhancer	Fetal Heart	heart
23	chr7:27283600-27284000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:27283600-27284400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:27283600-27284400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr7:27283600-27284600	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr7:27283600-27285000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
28	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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