Variant report

Variant	rs7222400
Chromosome Location	chr17:20839360-20839361
allele	A/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	JUN	chr17:20838933-20839914	Hela-S3	cervix:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
2	EP300	chr17:20838794-20839502	SK-N-SH	brain:	n/a	n/a
3	FOS	chr17:20839003-20839364	MCF10A-Er-Src	breast:	n/a	chr17:20839146-20839155 chr17:20839150-20839161
4	JUND	chr17:20838881-20839469	Hela-S3	cervix:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
5	CEBPB	chr17:20839027-20839476	Hela-S3	cervix:	n/a	n/a
6	FOSL2	chr17:20838865-20839469	A549	lung:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
7	NFIC	chr17:20838986-20839505	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr17:20838863-20839613	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr17:20838569-20839524	Hela-S3	cervix:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
10	POLR2A	chr17:20839169-20839512	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr17:20838852-20839552	SK-N-SH	brain:	n/a	n/a
12	FOS	chr17:20838824-20839469	HUVEC	blood vessel:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20839150-20839161 chr17:20838986-20838996
13	POLR2A	chr17:20839334-20839401	HUVEC	blood vessel:	n/a	n/a
14	JUND	chr17:20838871-20839548	SK-N-SH	brain:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
15	TCF12	chr17:20838800-20839565	SK-N-SH	brain:	n/a	n/a
16	STAT3	chr17:20838756-20839435	MCF10A-Er-Src	breast:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
17	FOS	chr17:20838966-20839562	MCF10A-Er-Src	breast:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20839150-20839161 chr17:20838986-20838996
18	POLR2A	chr17:20839101-20839497	Hela-S3	cervix:	n/a	n/a
19	FOS	chr17:20838538-20840654	MCF10A-Er-Src	breast:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20840412-20840421 chr17:20840410-20840421 chr17:20839150-20839161 chr17:20838986-20838996
20	MAX	chr17:20838974-20839451	SK-N-SH	brain:	n/a	n/a
21	JUND	chr17:20838892-20839485	SK-N-SH	brain:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
22	MYC	chr17:20838935-20839571	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF7L2	chr17:20838868-20839440	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr17:20838880-20839452	HUVEC	blood vessel:	n/a	n/a
25	PBX3	chr17:20838869-20839490	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr17:20838915-20839526	SK-N-SH	brain:	n/a	n/a
27	JUN	chr17:20838971-20839431	HUVEC	blood vessel:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
28	TEAD4	chr17:20838937-20839467	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr17:20838813-20839549	SK-N-SH	brain:	n/a	chr17:20839145-20839155
30	FOSL1	chr17:20838903-20839420	HCT-116	colon:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
31	TCF12	chr17:20838819-20839646	SK-N-SH	brain:	n/a	n/a
32	STAT3	chr17:20838972-20839431	MCF10A-Er-Src	breast:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
33	STAT3	chr17:20838906-20839380	MCF10A-Er-Src	breast:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
34	NFIC	chr17:20838795-20839597	SK-N-SH	brain:	n/a	n/a
35	FOSL2	chr17:20838893-20839606	SK-N-SH	brain:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20838986-20838996
36	STAT3	chr17:20838954-20839431	MCF10A-Er-Src	breast:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
37	EP300	chr17:20838706-20839574	Hela-S3	cervix:	n/a	n/a
38	FOS	chr17:20838750-20840680	MCF10A-Er-Src	breast:	n/a	chr17:20839146-20839155 chr17:20838986-20838996 chr17:20840412-20840421 chr17:20840410-20840421 chr17:20839150-20839161 chr17:20838986-20838996
39	STAT3	chr17:20838962-20839521	MCF10A-Er-Src	breast:	n/a	chr17:20839123-20839130 chr17:20839151-20839160 chr17:20839216-20839227
40	MYC	chr17:20839087-20839835	MCF10A-Er-Src	breast:	n/a	n/a
41	GATA3	chr17:20838844-20839587	SK-N-SH	brain:	n/a	chr17:20839145-20839155
42	EP300	chr17:20839046-20839430	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr17:20838919-20839451	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20836869..20840041-chr17:20841054..20844534,3	K562	blood:
2	chr17:20839289..20841675-chr17:20882909..20885590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233098	TF binding region
ENSG00000264660	TF binding region
ENSG00000265099	Chromatin interaction
ENSG00000266009	Chromatin interaction
ENSG00000233098	Chromatin interaction
ENSG00000264660	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10445414	0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280307	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4452013	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4473257	0.82[CHD][hapmap]
rs6587100	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6587101	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587102	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7207876	0.95[JPT][hapmap]
rs7215428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217110	0.84[ASN][1000 genomes]
rs7224181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501651	0.82[CEU][hapmap]
rs8067705	0.86[GIH][hapmap];0.92[MEX][hapmap];0.81[EUR][1000 genomes]
rs8073343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8075712	0.81[EUR][1000 genomes]
rs9897888	0.81[EUR][1000 genomes]
rs9911380	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912200	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912643	0.86[GIH][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20827200-20856200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20829400-20840600	Weak transcription	Ovary	ovary
3	chr17:20831000-20846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:20831000-20847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20831400-20847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:20831600-20845800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:20832400-20847800	Weak transcription	Gastric	stomach
8	chr17:20834200-20846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:20834600-20847200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:20834600-20847800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:20835200-20841400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:20835600-20840400	Weak transcription	Fetal Stomach	stomach
13	chr17:20835600-20869000	Weak transcription	HepG2	liver
14	chr17:20835800-20840800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:20836800-20841600	Enhancers	Colon Smooth Muscle	Colon
16	chr17:20837000-20840800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr17:20837000-20841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:20837000-20841800	Enhancers	Hela-S3	cervix
19	chr17:20837200-20840800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:20837200-20841400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:20837400-20840800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:20837400-20841200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:20837600-20841400	Enhancers	HMEC	breast
24	chr17:20837800-20840200	Enhancers	NHEK	skin
25	chr17:20838000-20840400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:20838000-20840800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:20838000-20840800	Enhancers	HSMM	muscle
28	chr17:20838000-20841400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:20838400-20840400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:20838600-20839400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:20838600-20839600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:20838600-20840600	Enhancers	Adipose Nuclei	Adipose
33	chr17:20838600-20840800	Enhancers	NHLF	lung
34	chr17:20838600-20852400	Weak transcription	K562	blood
35	chr17:20838800-20839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:20838800-20839600	Flanking Active TSS	NH-A	brain
37	chr17:20838800-20839600	Flanking Active TSS	Osteobl	bone
38	chr17:20838800-20840400	Enhancers	HSMMtube	muscle
39	chr17:20839000-20839400	Flanking Active TSS	A549	lung
40	chr17:20839000-20839400	Flanking Active TSS	NHDF-Ad	bronchial
41	chr17:20839200-20839400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr17:20839200-20839600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:20839200-20839600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:20839200-20839600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr17:20839200-20839600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:20839200-20839600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:20839200-20839600	Active TSS	Rectal Smooth Muscle	rectum
48	chr17:20839200-20839600	Flanking Active TSS	HUVEC	blood vessel
49	chr17:20839200-20840600	Enhancers	Stomach Mucosa	stomach
50	chr17:20839200-20841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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