Variant report

Variant	rs72819876
Chromosome Location	chr17:15554173-15554174
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	EP300	chr17:15554130-15555513	ECC-1	luminal epithelium:	n/a	chr17:15554331-15554347
2	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
3	ELF1	chr17:15553937-15555363	A549	lung:	n/a	n/a
4	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
5	FOSL2	chr17:15552988-15555470	A549	lung:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
6	PBX3	chr17:15554063-15555493	A549	lung:	n/a	n/a
7	BCL3	chr17:15553870-15555356	A549	lung:	n/a	n/a
8	ETS1	chr17:15554144-15555346	A549	lung:	n/a	n/a
9	MAX	chr17:15554029-15555520	HCT-116	colon:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
10	STAT3	chr17:15552888-15554330	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553347 chr17:15553945-15553956 chr17:15553661-15553675 chr17:15553738-15553745 chr17:15553452-15553475 chr17:15553664-15553673 chr17:15553663-15553672
11	MAFK	chr17:15554050-15555459	Hela-S3	cervix:	n/a	n/a
12	SP1	chr17:15554069-15555461	A549	lung:	n/a	n/a
13	SP1	chr17:15554054-15555494	A549	lung:	n/a	n/a
14	CEBPB	chr17:15553130-15554490	Hela-S3	cervix:	n/a	n/a
15	HDAC2	chr17:15554168-15555420	MCF-7	breast:	n/a	chr17:15555334-15555348
16	BCL3	chr17:15554150-15555483	A549	lung:	n/a	n/a
17	POLR2A	chr17:15554047-15554613	Hela-S3	cervix:	n/a	n/a
18	ELK1	chr17:15554093-15554627	Hela-S3	cervix:	n/a	n/a
19	USF2	chr17:15554118-15555444	Hela-S3	cervix:	n/a	chr17:15555237-15555248
20	PBX3	chr17:15554085-15555247	A549	lung:	n/a	n/a
21	EP300	chr17:15554068-15555402	A549	lung:	n/a	chr17:15554331-15554347
22	MAX	chr17:15554024-15555433	Hela-S3	cervix:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
23	NFIC	chr17:15552980-15554475	ECC-1	luminal epithelium:	n/a	chr17:15553980-15553997 chr17:15553981-15553997
24	POLR2A	chr17:15554098-15554244	H1-hESC	embryonic stem cell:	n/a	n/a
25	SIN3AK20	chr17:15554007-15555500	MCF-7	breast:	n/a	n/a
26	SMC3	chr17:15554153-15555413	Hela-S3	cervix:	n/a	n/a
27	EP300	chr17:15554128-15555433	A549	lung:	n/a	chr17:15554331-15554347
28	POLR2A	chr17:15553192-15555481	MCF10A-Er-Src	breast:	n/a	n/a
29	GATA3	chr17:15554056-15555527	A549	lung:	n/a	n/a
30	POLR2A	chr17:15554018-15555341	ECC-1	luminal epithelium:	n/a	n/a
31	SIN3AK20	chr17:15554134-15555447	A549	lung:	n/a	n/a
32	SIN3AK20	chr17:15553963-15555495	A549	lung:	n/a	n/a
33	MAX	chr17:15552793-15555516	A549	lung:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15553339-15553348 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
34	POLR2A	chr17:15554098-15555466	MCF-7	breast:	n/a	n/a
35	MXI1	chr17:15553449-15555638	SK-N-SH	brain:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
36	RCOR1	chr17:15554173-15555389	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr17:15553163-15555515	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr17:15554066-15555323	Hela-S3	cervix:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250
39	CHD2	chr17:15554157-15555365	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr17:15554064-15555361	A549	lung:	n/a	n/a
41	ZNF143	chr17:15554084-15555270	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr17:15554048-15555459	Hela-S3	cervix:	n/a	n/a
43	TCF7L2	chr17:15554169-15555308	Hela-S3	cervix:	n/a	n/a
44	MAX	chr17:15554072-15555502	A549	lung:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
45	POLR2A	chr17:15554164-15554196	Hela-S3	cervix:	n/a	n/a
46	NRF1	chr17:15554066-15554191	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZKSCAN1	chr17:15554122-15555402	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr17:15552019..15554730-chr17:16119203..16121978,2	MCF-7	breast:
3	chr17:15551872..15554786-chr17:16116224..16118866,3	MCF-7	breast:
4	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266261	TF binding region
ENSG00000011295	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1563011	0.82[ASN][1000 genomes]
rs2074890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159084	0.82[ASN][1000 genomes]
rs3760303	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4792645	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61295879	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7223879	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72819882	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9890334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15544400-15554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:15549400-15554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:15549600-15554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:15549600-15554200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:15549600-15554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:15549600-15554400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:15549600-15554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr17:15549600-15554800	Weak transcription	GM12878-XiMat	blood
9	chr17:15550000-15554600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:15550200-15554200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:15551000-15554400	Active TSS	Esophagus	oesophagus
12	chr17:15551600-15554400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr17:15551600-15555000	Active TSS	Psoas Muscle	Psoas
14	chr17:15551600-15555000	Flanking Active TSS	Hela-S3	cervix
15	chr17:15552000-15554200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:15552200-15554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:15552200-15555200	Active TSS	Stomach Mucosa	stomach
18	chr17:15552200-15564600	Weak transcription	HepG2	liver
19	chr17:15552400-15554400	Active TSS	Right Ventricle	heart
20	chr17:15552400-15555600	Active TSS	A549	lung
21	chr17:15552400-15555600	Active TSS	HSMM	muscle
22	chr17:15552400-15555600	Active TSS	HSMMtube	muscle
23	chr17:15553000-15554600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:15553000-15554600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:15553000-15554600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr17:15553000-15555000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:15553000-15555000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr17:15553000-15555000	Flanking Active TSS	HMEC	breast
29	chr17:15553000-15555400	Flanking Active TSS	HUVEC	blood vessel
30	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
33	chr17:15553200-15554200	Enhancers	Fetal Heart	heart
34	chr17:15553200-15554400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:15553200-15554400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:15553200-15554800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr17:15553200-15555000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:15553200-15555000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:15553200-15555000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr17:15553200-15555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:15553200-15555400	Flanking Active TSS	Fetal Lung	lung
42	chr17:15553200-15555400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr17:15553200-15555600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr17:15553400-15554400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:15553400-15554400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:15553400-15554600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr17:15553400-15555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:15553400-15555000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr17:15553400-15555200	Active TSS	Fetal Intestine Small	intestine
50	chr17:15553400-15555200	Active TSS	NHEK	skin

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