Variant report

Variant	rs12603069
Chromosome Location	chr17:17569961-17569962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17566953..17570560-chr17:17583425..17585790,3	K562	blood:
2	chr17:17569394..17571132-chr17:17584796..17587607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12600386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12603026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12603397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282180	1.00[AMR][1000 genomes]
rs56038611	0.91[ASN][1000 genomes]
rs58667361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73290159	0.91[ASN][1000 genomes]
rs73295697	1.00[EUR][1000 genomes]
rs73300562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17566400-17570200	Enhancers	Fetal Stomach	stomach
2	chr17:17566600-17572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:17567000-17570400	Weak transcription	Pancreas	Pancrea
4	chr17:17567000-17572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:17567000-17572200	Weak transcription	Fetal Brain Female	brain
6	chr17:17567000-17572200	Weak transcription	Fetal Heart	heart
7	chr17:17567000-17572200	Weak transcription	Gastric	stomach
8	chr17:17567000-17572400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:17567000-17573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:17567200-17571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:17567200-17572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:17567200-17572400	Weak transcription	Fetal Brain Male	brain
15	chr17:17567200-17572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:17567200-17572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17567200-17574400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:17567200-17575400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:17567200-17579200	Weak transcription	K562	blood
20	chr17:17567400-17572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17567400-17575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:17568200-17571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:17568200-17573800	Weak transcription	Left Ventricle	heart
24	chr17:17568200-17576200	Weak transcription	Spleen	Spleen
25	chr17:17568600-17570000	Enhancers	Fetal Muscle Leg	muscle
26	chr17:17568800-17570000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr17:17568800-17571800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:17568800-17572000	Enhancers	NHEK	skin
29	chr17:17568800-17574000	Enhancers	Fetal Thymus	thymus
30	chr17:17569000-17575600	Weak transcription	GM12878-XiMat	blood
31	chr17:17569400-17570000	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr17:17569400-17570000	Enhancers	NH-A	brain
33	chr17:17569400-17570200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:17569400-17570200	Enhancers	A549	lung
35	chr17:17569400-17570200	Enhancers	Hela-S3	cervix
36	chr17:17569400-17570200	Enhancers	NHLF	lung
37	chr17:17569400-17570600	Enhancers	HSMM	muscle
38	chr17:17569400-17572600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:17569400-17572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:17569400-17572800	Enhancers	HMEC	breast
41	chr17:17569600-17570000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:17569600-17570000	Bivalent Enhancer	Placenta	Placenta
43	chr17:17569600-17570200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:17569600-17570200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr17:17569600-17570200	Weak transcription	Esophagus	oesophagus
46	chr17:17569600-17570400	Enhancers	HSMMtube	muscle
47	chr17:17569600-17570600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:17569600-17571600	Weak transcription	Thymus	Thymus
49	chr17:17569800-17570000	Enhancers	Right Ventricle	heart
50	chr17:17569800-17570200	Enhancers	Colonic Mucosa	Colon

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