Variant report

Variant	rs186081752
Chromosome Location	chr17:15732412-15732413
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	YY1	chr17:15732029-15732447	A549	lung:	n/a	n/a
2	CTCF	chr17:15731919-15732527	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
3	CTCF	chr17:15732078-15732439	Gliobla	brain:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
4	POU2F2	chr17:15731973-15732470	GM12878	blood:	n/a	chr17:15732312-15732324 chr17:15732216-15732228
5	CTCF	chr17:15731993-15732432	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
6	FOXP2	chr17:15732144-15732426	PFSK-1	brain:	n/a	n/a
7	CTCF	chr17:15732086-15732433	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
8	MXI1	chr17:15731913-15732806	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr17:15732078-15732417	Spleen_OC	spleen:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
10	IRF4	chr17:15732058-15732486	GM12878	blood:	n/a	n/a
11	CTCF	chr17:15732030-15732508	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
12	CTCF	chr17:15732020-15732414	Lung_OC	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
13	CTCF	chr17:15732007-15732536	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
14	SP1	chr17:15731951-15732499	A549	lung:	n/a	n/a
15	CTCF	chr17:15732088-15732440	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
16	RAD21	chr17:15731971-15732416	HepG2	liver:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
17	CTCF	chr17:15732001-15732463	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
18	CTCF	chr17:15732085-15732431	NHEK	skin:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
19	CTCF	chr17:15732011-15732416	GM12878	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
20	RAD21	chr17:15731919-15732558	SK-N-SH	brain:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
21	CTCF	chr17:15731798-15732659	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
22	CTCF	chr17:15732091-15732414	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
23	CTCF	chr17:15731988-15732737	SK-N-SH	brain:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
24	RAD21	chr17:15731984-15732412	H1-hESC	embryonic stem cell:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
25	RAD21	chr17:15732023-15732506	IMR90	lung:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
26	CTCF	chr17:15732056-15732453	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
27	CTCF	chr17:15731901-15732535	HCT-116	colon:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
28	SMC3	chr17:15731970-15732648	SK-N-SH	brain:	n/a	chr17:15732215-15732229
29	RAD21	chr17:15732026-15732412	H1-hESC	embryonic stem cell:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
30	CTCF	chr17:15732086-15732428	Kidney_OC	kidney:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
31	CTCF	chr17:15732015-15732415	IMR90	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
32	CTCF	chr17:15732035-15732422	T-47D	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
33	CTCF	chr17:15732100-15732436	HepG2	liver:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
34	CTCF	chr17:15732082-15732445	LNCaP	prostate:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
35	CTCF	chr17:15732065-15732413	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
36	SP1	chr17:15732001-15732542	A549	lung:	n/a	n/a
37	CTCF	chr17:15732088-15732435	Hela-S3	cervix:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
38	TCF12	chr17:15731908-15732498	A549	lung:	n/a	n/a
39	CTCF	chr17:15732080-15732451	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
40	SMC3	chr17:15732015-15732414	Hela-S3	cervix:	n/a	chr17:15732215-15732229
41	CTCF	chr17:15731963-15732535	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
42	CTCF	chr17:15732103-15732414	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
43	RAD21	chr17:15732100-15732420	MCF-7	breast:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
44	CTCF	chr17:15732000-15732472	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
45	CTCF	chr17:15732095-15732412	Fibrobl	skin:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15731737..15732560-chr17:15901825..15902694,3	MCF-7	breast:
2	chr17:15732168..15733133-chr17:15847994..15848750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227790	TF binding region
ENSG00000170425	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking 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	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv978371	chr17:15726145-15735621	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv962264	chr17:15726145-15784073	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15732200-15732600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:15732400-15732600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:15732400-15732600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:15732400-15732600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:15732400-15732600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:15732400-15732600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:15732400-15732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:15732400-15732600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr17:15732400-15732600	Enhancers	Adipose Nuclei	Adipose
10	chr17:15732400-15732600	Enhancers	Liver	Liver
11	chr17:15732400-15732600	Enhancers	Brain Anterior Caudate	brain
12	chr17:15732400-15732600	Enhancers	Brain Cingulate Gyrus	brain
13	chr17:15732400-15732600	Enhancers	Brain Germinal Matrix	brain
14	chr17:15732400-15732600	Enhancers	Colon Smooth Muscle	Colon
15	chr17:15732400-15732600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr17:15732400-15732600	Enhancers	Fetal Intestine Small	intestine
17	chr17:15732400-15732600	Enhancers	Fetal Kidney	kidney
18	chr17:15732400-15732600	Enhancers	Fetal Lung	lung
19	chr17:15732400-15732600	Enhancers	Fetal Muscle Trunk	muscle
20	chr17:15732400-15732600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr17:15732400-15732600	Enhancers	Stomach Mucosa	stomach
22	chr17:15732400-15732600	Enhancers	Stomach Smooth Muscle	stomach
23	chr17:15732400-15732600	Enhancers	HUVEC	blood vessel
24	chr17:15732400-15732600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr17:15732400-15732600	Flanking Active TSS	NH-A	brain
26	chr17:15732400-15732600	Enhancers	NHEK	skin
27	chr17:15732400-15732600	Flanking Active TSS	Osteobl	bone
28	chr17:15732400-15732800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr17:15732400-15732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr17:15732400-15732800	Enhancers	Fetal Heart	heart
31	chr17:15732400-15732800	Enhancers	A549	lung
32	chr17:15732400-15732800	Enhancers	HepG2	liver

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