Variant report

Variant	rs72827166
Chromosome Location	chr17:37774989-37774990
allele	C/T
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	POLR2A	chr17:37774697-37775019	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr17:37773375-37775120	SK-N-SH	brain:	n/a	n/a
3	EP300	chr17:37774616-37775314	A549	lung:	n/a	n/a
4	MAZ	chr17:37773548-37775040	IMR90	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
5	MYC	chr17:37773715-37775034	NB4	blood:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
6	MAX	chr17:37773466-37775262	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
7	MXI1	chr17:37773761-37775068	IMR90	lung:	n/a	n/a
8	CREB1	chr17:37774762-37775111	A549	lung:	n/a	n/a
9	YY1	chr17:37774472-37775146	H1-hESC	embryonic stem cell:	n/a	chr17:37774902-37774913 chr17:37774507-37774521 chr17:37774581-37774589
10	E2F6	chr17:37773820-37775024	A549	lung:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774891-37774903 chr17:37774140-37774154 chr17:37774374-37774388
11	MAX	chr17:37773764-37775308	ECC-1	luminal epithelium:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
12	RFX5	chr17:37774629-37775071	Hela-S3	cervix:	n/a	n/a
13	HA-E2F1	chr17:37774612-37775127	MCF-7	breast:	n/a	chr17:37774891-37774903
14	SP1	chr17:37774027-37775043	A549	lung:	n/a	chr17:37774506-37774518 chr17:37774278-37774285 chr17:37774569-37774583 chr17:37774508-37774517
15	NFIC	chr17:37773511-37775157	ECC-1	luminal epithelium:	n/a	n/a
16	MYC	chr17:37773778-37775142	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
17	MAX	chr17:37774626-37775315	ECC-1	luminal epithelium:	n/a	chr17:37774889-37774899
18	MAX	chr17:37773580-37775345	HCT-116	colon:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
19	MXI1	chr17:37774639-37775203	Hela-S3	cervix:	n/a	chr17:37775159-37775174
20	MAX	chr17:37773322-37775248	HCT-116	colon:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
21	MAX	chr17:37774667-37775132	SK-N-SH	brain:	n/a	chr17:37774889-37774899
22	SP1	chr17:37773857-37775078	A549	lung:	n/a	chr17:37775065-37775074 chr17:37774506-37774518 chr17:37774278-37774285 chr17:37774569-37774583 chr17:37774508-37774517
23	TCF12	chr17:37774411-37775176	A549	lung:	n/a	n/a
24	NFIC	chr17:37773546-37775082	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr17:37773781-37775096	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr17:37773704-37775020	Hela-S3	cervix:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
27	E2F4	chr17:37774623-37775055	MCF10A-Er-Src	breast:	n/a	chr17:37774891-37774903
28	MYC	chr17:37773495-37775042	MCF10A-Er-Src	breast:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
29	MAX	chr17:37773369-37775395	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
30	MAX	chr17:37773671-37775161	Hela-S3	cervix:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126

No.	Distal block	Cell Line	Cell type
1	chr17:37772840..37775144-chr17:37791860..37794775,2	MCF-7	breast:
2	chr17:37769144..37771005-chr17:37773634..37775729,2	MCF-7	breast:
3	chr17:37774543..37777330-chr17:37885224..37887436,2	K562	blood:
4	chr17:37758356..37760181-chr17:37774194..37775834,2	MCF-7	breast:
5	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:
6	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
7	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
8	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:
9	chr17:37773726..37775508-chr17:37899665..37902639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214546	TF binding region
ENSG00000131748	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000141741	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1877032	0.86[EUR][1000 genomes]
rs28533242	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55942935	0.83[EUR][1000 genomes]
rs66482609	0.93[EUR][1000 genomes]
rs9892853	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9899652	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9899653	0.89[EUR][1000 genomes]
rs9907501	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv3391098	chr17:37773251-37775799	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
2	chr17:37773400-37775200	Bivalent/Poised TSS	NHEK	skin
3	chr17:37773600-37775000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:37773600-37775200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:37773600-37775200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr17:37773600-37775200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:37773600-37775200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr17:37773600-37775200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:37773600-37775200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:37773600-37775200	Enhancers	Liver	Liver
11	chr17:37773800-37775000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr17:37773800-37775000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:37773800-37775000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:37773800-37775000	Active TSS	Aorta	Aorta
15	chr17:37773800-37775000	Active TSS	Colon Smooth Muscle	Colon
16	chr17:37773800-37775000	Active TSS	Esophagus	oesophagus
17	chr17:37773800-37775000	Active TSS	Gastric	stomach
18	chr17:37773800-37775000	Active TSS	Left Ventricle	heart
19	chr17:37773800-37775200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr17:37773800-37775200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr17:37773800-37775200	Enhancers	Fetal Lung	lung
22	chr17:37773800-37775200	Active TSS	Lung	lung
23	chr17:37773800-37775200	Active TSS	Rectal Smooth Muscle	rectum
24	chr17:37773800-37775200	Bivalent/Poised TSS	NHLF	lung
25	chr17:37773800-37775400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:37773800-37775400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr17:37774000-37775000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:37774000-37775000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr17:37774000-37775000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:37774000-37775000	Active TSS	Brain Anterior Caudate	brain
31	chr17:37774000-37775000	Active TSS	Brain Cingulate Gyrus	brain
32	chr17:37774000-37775000	Active TSS	Brain Substantia Nigra	brain
33	chr17:37774000-37775000	Active TSS	Ovary	ovary
34	chr17:37774000-37775000	Active TSS	Pancreas	Pancrea
35	chr17:37774000-37775000	Active TSS	Psoas Muscle	Psoas
36	chr17:37774000-37775000	Active TSS	Right Ventricle	heart
37	chr17:37774000-37775000	Bivalent/Poised TSS	GM12878-XiMat	blood
38	chr17:37774000-37775000	Active TSS	Hela-S3	cervix
39	chr17:37774000-37775000	Active TSS	HSMMtube	muscle
40	chr17:37774000-37775200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:37774000-37775200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:37774000-37775200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr17:37774000-37775200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr17:37774000-37775200	Active TSS	Brain Angular Gyrus	brain
45	chr17:37774000-37775200	Active TSS	Right Atrium	heart
46	chr17:37774000-37775200	Active TSS	HSMM	muscle
47	chr17:37774000-37775200	Active TSS	Osteobl	bone
48	chr17:37774200-37775200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr17:37774400-37775000	Flanking Bivalent TSS/Enh	Dnd41	blood
50	chr17:37774400-37775200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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