Variant report

Variant	rs1020697
Chromosome Location	chr17:17411030-17411031
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	CEBPB	chr17:17410775-17411042	IMR90	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
2	CEBPB	chr17:17410749-17411084	K562	blood:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
3	CEBPB	chr17:17410796-17411057	A549	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
4	CEBPB	chr17:17410766-17411077	HepG2	liver:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2278952	1.00[CEU][hapmap]
rs3760183	0.89[GIH][hapmap]
rs4646348	1.00[CEU][hapmap]
rs4646367	1.00[CEU][hapmap]
rs4646381	1.00[CEU][hapmap]
rs4646383	1.00[CEU][hapmap]
rs4646398	1.00[CEU][hapmap]
rs4646400	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907738	chr17:17404586-17422608	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv907739	chr17:17404586-17424333	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv574524	chr17:17408484-17414594	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv1803680	chr17:17408484-17426009	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv574525	chr17:17411030-17422608	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1020697	PRAC	trans	lymphoblastoid	seeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17415200	Weak transcription	Ovary	ovary
3	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
9	chr17:17401200-17415200	Weak transcription	Gastric	stomach
10	chr17:17405600-17412000	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:17405800-17413200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17406200-17415800	Enhancers	Fetal Heart	heart
13	chr17:17406600-17414600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:17407400-17425400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:17407800-17418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:17407800-17422600	Weak transcription	Brain Germinal Matrix	brain
17	chr17:17408000-17411200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17408000-17418200	Weak transcription	Fetal Brain Female	brain
19	chr17:17408000-17418400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:17408200-17419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:17408400-17417600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:17408800-17414400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17409000-17411400	Enhancers	Lung	lung
24	chr17:17409200-17411800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:17409400-17411400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:17409400-17411400	Enhancers	Spleen	Spleen
27	chr17:17409400-17411800	Enhancers	Fetal Muscle Leg	muscle
28	chr17:17409600-17411400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr17:17409600-17411600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:17410000-17411400	Enhancers	Fetal Thymus	thymus
31	chr17:17410000-17414200	Strong transcription	Liver	Liver
32	chr17:17410000-17414800	Weak transcription	NHLF	lung
33	chr17:17410200-17411400	Enhancers	Brain Cingulate Gyrus	brain
34	chr17:17410200-17418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:17410200-17426400	Weak transcription	Fetal Intestine Large	intestine
36	chr17:17410400-17411200	Weak transcription	Fetal Stomach	stomach
37	chr17:17410400-17415400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:17410600-17411400	Genic enhancers	Right Ventricle	heart
39	chr17:17410800-17411400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:17410800-17412000	Weak transcription	HSMMtube	muscle
41	chr17:17410800-17412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:17410800-17415200	Weak transcription	Esophagus	oesophagus
43	chr17:17411000-17411800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr17:17411000-17411800	Weak transcription	Fetal Brain Male	brain
45	chr17:17411000-17412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:17411000-17413200	Weak transcription	Adipose Nuclei	Adipose
47	chr17:17411000-17413400	Weak transcription	Stomach Mucosa	stomach
48	chr17:17411000-17413600	Weak transcription	Brain Angular Gyrus	brain
49	chr17:17411000-17418400	Strong transcription	Fetal Intestine Small	intestine
50	chr17:17411000-17420000	Weak transcription	Pancreas	Pancrea

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