Variant report

Variant	rs1875692
Chromosome Location	chr17:15558203-15558204
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	TCF12	chr17:15558200-15558949	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr17:15558189-15558951	ECC-1	luminal epithelium:	n/a	chr17:15558648-15558658
3	TEAD4	chr17:15558201-15558974	ECC-1	luminal epithelium:	n/a	chr17:15558814-15558823

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15553921..15556547-chr17:15556624..15558829,2	K562	blood:
2	chr17:15553921..15556544-chr17:15556861..15558829,2	K562	blood:

Variant related genes	Relation type
ENSG00000251537	TF binding region
ENSG00000251537	Chromatin interaction
ENSG00000266261	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10521309	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503130	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16964250	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34398696	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760302	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760304	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785635	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791634	0.83[ASN][1000 genomes]
rs4792642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58352721	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61402712	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62070421	0.80[EUR][1000 genomes]
rs62070424	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62071661	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7213827	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223394	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	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
10	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
11	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15552200-15564600	Weak transcription	HepG2	liver
2	chr17:15554600-15571200	Weak transcription	Liver	Liver
3	chr17:15555000-15558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:15555000-15563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:15555000-15563200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:15555000-15587000	Weak transcription	Gastric	stomach
8	chr17:15555200-15558400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:15555200-15558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:15555200-15558400	Weak transcription	Fetal Thymus	thymus
11	chr17:15555200-15559200	Weak transcription	Esophagus	oesophagus
12	chr17:15555200-15562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:15555200-15562200	Weak transcription	Left Ventricle	heart
14	chr17:15555200-15562200	Weak transcription	Pancreas	Pancrea
15	chr17:15555200-15564400	Weak transcription	GM12878-XiMat	blood
16	chr17:15555200-15567000	Weak transcription	Lung	lung
17	chr17:15555200-15567200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:15555400-15559400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:15555400-15560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:15555400-15560600	Weak transcription	Primary T cells from cord blood	blood
22	chr17:15555400-15561800	Weak transcription	Fetal Brain Female	brain
23	chr17:15555400-15562200	Weak transcription	Right Atrium	heart
24	chr17:15555400-15563200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:15555400-15564400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:15555400-15564600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:15555400-15565200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:15555400-15566800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:15555400-15567000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:15555400-15568200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:15555400-15568200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:15555400-15569000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:15555400-15576800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:15555400-15585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:15555400-15586600	Weak transcription	Brain Angular Gyrus	brain
36	chr17:15555400-15586600	Weak transcription	Thymus	Thymus
37	chr17:15555400-15587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:15555600-15558400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:15555600-15558400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15555600-15558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:15555600-15558400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr17:15555600-15558600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:15555600-15558600	Weak transcription	HUVEC	blood vessel
44	chr17:15555600-15559000	Enhancers	Fetal Muscle Leg	muscle
45	chr17:15555600-15559600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr17:15555600-15560800	Weak transcription	Adipose Nuclei	Adipose
47	chr17:15555600-15561200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:15555600-15562400	Weak transcription	Fetal Heart	heart
49	chr17:15555600-15563000	Weak transcription	Fetal Stomach	stomach
50	chr17:15555600-15563200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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