Variant report

Variant	rs17472962
Chromosome Location	chr7:27281303-27281304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

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	TEAD4	chr7:27281202-27281624	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:27281303-27282662	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr7:27281219-27282711	H1-neurons	neurons:	n/a	n/a
5	SP1	chr7:27281270-27281692	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr7:27281169-27281614	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr7:27281270-27281701	ECC-1	luminal epithelium:	n/a	n/a
8	SUZ12	chr7:27280801-27281543	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr7:27281210-27281637	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27279764..27282152-chr7:27285274..27287465,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-170O19.17.1-2	chr7:27280658-27281629	NONHSAT119723

No data

Variant related genes	Relation type
EVX1	TF binding region
ENSG00000253308	TF binding region
ENSG00000106038	Chromatin interaction
ENSG00000253405	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11564044	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761572	1.00[ASN][1000 genomes]
rs11762186	1.00[ASN][1000 genomes]
rs11764246	1.00[ASN][1000 genomes]
rs11766354	1.00[ASN][1000 genomes]
rs11767145	1.00[ASN][1000 genomes]
rs11767850	1.00[ASN][1000 genomes]
rs11768223	1.00[ASN][1000 genomes]
rs11971150	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973735	1.00[ASN][1000 genomes]
rs11975202	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980022	1.00[EUR][1000 genomes]
rs11983008	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983027	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17427421	1.00[ASN][1000 genomes]
rs17428012	1.00[ASN][1000 genomes]
rs17428025	1.00[ASN][1000 genomes]
rs17428046	1.00[ASN][1000 genomes]
rs17428116	1.00[ASN][1000 genomes]
rs17428157	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17428240	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17428254	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17428988	1.00[ASN][1000 genomes]
rs17429051	1.00[ASN][1000 genomes]
rs17429557	1.00[ASN][1000 genomes]
rs17429691	1.00[ASN][1000 genomes]
rs17429719	1.00[ASN][1000 genomes]
rs17429726	1.00[ASN][1000 genomes]
rs17437657	1.00[ASN][1000 genomes]
rs17437775	1.00[ASN][1000 genomes]
rs17437824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17438403	1.00[ASN][1000 genomes]
rs17438410	1.00[ASN][1000 genomes]
rs17439165	1.00[ASN][1000 genomes]
rs17439312	1.00[ASN][1000 genomes]
rs17439333	1.00[ASN][1000 genomes]
rs17472756	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472763	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472892	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501111	1.00[ASN][1000 genomes]
rs17502037	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189239	1.00[ASN][1000 genomes]
rs28357135	1.00[ASN][1000 genomes]
rs35786897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722669	1.00[ASN][1000 genomes]
rs56029757	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59133852	1.00[ASN][1000 genomes]
rs60356285	1.00[ASN][1000 genomes]
rs6461996	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948488	1.00[ASN][1000 genomes]
rs6951363	1.00[ASN][1000 genomes]
rs6965319	1.00[ASN][1000 genomes]
rs6977425	1.00[ASN][1000 genomes]
rs7783517	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27276000-27282000	Weak transcription	Pancreas	Pancrea
2	chr7:27278200-27281400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:27278400-27282800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:27278600-27282600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr7:27278800-27285000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27279600-27282200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27279800-27282400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr7:27280000-27285600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr7:27280600-27281400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr7:27280800-27281400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:27280800-27282200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr7:27281000-27281400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:27281200-27281400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:27281200-27281400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr7:27281200-27281400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr7:27281200-27281600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:27281200-27281600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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