Variant report

Variant	rs17472976
Chromosome Location	chr7:27281490-27281491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:27281403-27281671	H1-hESC	embryonic stem cell:	n/a	chr7:27281407-27281415
2	TCF12	chr7:27281428-27281606	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr7:27280823-27287156	NT2-D1	testis:	n/a	n/a
4	TEAD4	chr7:27281202-27281624	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:27281303-27282662	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:27281219-27282711	H1-neurons	neurons:	n/a	n/a
7	SP1	chr7:27281270-27281692	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr7:27281169-27281614	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr7:27281270-27281701	ECC-1	luminal epithelium:	n/a	n/a
10	SUZ12	chr7:27280801-27281543	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr7:27281210-27281637	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27281465-27281515	AG04449	skin:	fetal
2	chr7:27281465-27281515	HRPEpiC	eye:	n/a
3	chr7:27281465-27281515	ovcar-3	ovarian:	n/a
4	chr7:27281465-27281515	AoSMC	blood vessel:	n/a
5	chr7:27281465-27281515	HEK293	kidney:	embryo
6	chr7:27281465-27281515	Hepatocyte	liver:	n/a
7	chr7:27281465-27281515	K562	blood:	n/a
8	chr7:27281465-27281515	NHBE	bronchial:	n/a
9	chr7:27281465-27281515	HRE	kidney:	n/a
10	chr7:27281465-27281515	HEEpiC	esophagus:	n/a
11	chr7:27281465-27281515	HepG2	liver:	n/a
12	chr7:27281465-27281515	AG09309	skin:	n/a
13	chr7:27281465-27281515	HUVEC	blood vessel:	n/a
14	chr7:27281465-27281515	SKMC	muscle:	n/a
15	chr7:27281465-27281515	NB4	blood:	n/a
16	chr7:27281465-27281515	Hela-S3	cervix:	n/a
17	chr7:27281465-27281515	HIPEpiC	eye:	n/a
18	chr7:27281465-27281515	Jurkat	blood:	n/a
19	chr7:27281465-27281515	ECC-1	luminal epithelium:	n/a
20	chr7:27281465-27281515	GM19239	blood:	n/a
21	chr7:27281465-27281515	BE2_C	brain:	n/a
22	chr7:27281465-27281515	H1-hESC	embryonic stem cell:	embryo
23	chr7:27281465-27281515	GM12891	blood:	n/a
24	chr7:27281465-27281515	T-47D	breast:	n/a
25	chr7:27281465-27281515	HMEC	breast:	n/a
26	chr7:27281465-27281515	HL-60	blood:	n/a
27	chr7:27281465-27281515	ProgFib	skin:	n/a
28	chr7:27281465-27281515	MCF-7	breast:	n/a
29	chr7:27281465-27281515	PrEC	prostate:	n/a
30	chr7:27281465-27281515	PFSK-1	brain:	n/a
31	chr7:27281465-27281515	SK-N-MC	brain:	n/a
32	chr7:27281465-27281515	NH-A	brain:	n/a
33	chr7:27281465-27281515	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:27281465-27281515	HCF	heart:	n/a
35	chr7:27281465-27281515	AG04450	lung:	fetal
36	chr7:27281465-27281515	NHDF-neo	bronchial:	n/a
37	chr7:27281465-27281515	GM06990	blood:	n/a
38	chr7:27281465-27281515	HRCEpiC	kidney:	n/a
39	chr7:27281465-27281515	HAEpiC	amniotic membrane:	n/a
40	chr7:27281465-27281515	GM12878	blood:	n/a
41	chr7:27281465-27281515	U87	brain:	n/a
42	chr7:27281465-27281515	NT2-D1	testis:	n/a
43	chr7:27281465-27281515	HCT-116	colon:	n/a
44	chr7:27281465-27281515	SAEC	small airway:	n/a
45	chr7:27281465-27281515	GM12892	blood:	n/a
46	chr7:27281465-27281515	AG10803	skin:	n/a
47	chr7:27281465-27281515	PANC-1	pancreas:	n/a
48	chr7:27281465-27281515	MCF10A-Er-Src	breast:	n/a
49	chr7:27281465-27281515	CMK	blood:	n/a
50	chr7:27281465-27281515	BJ	skin:	n/a

(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
EVX1	CpG island
ENSG00000253308	CpG island
ENSG00000106038	Chromatin interaction
ENSG00000253405	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17449510	1.00[JPT][hapmap]
rs28357156	1.00[JPT][hapmap]
rs28357171	1.00[JPT][hapmap]
rs5024266	1.00[JPT][hapmap]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27276000-27282000	Weak transcription	Pancreas	Pancrea
2	chr7:27278400-27282800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:27278600-27282600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr7:27278800-27285000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:27279600-27282200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:27279800-27282400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr7:27280000-27285600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr7:27280800-27282200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr7:27281200-27281600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:27281200-27281600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:27281400-27281800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:27281400-27282000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr7:27281400-27282000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr7:27281400-27282200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr7:27281400-27282400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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