Variant report

Variant	rs58701210
Chromosome Location	chr17:17485041-17485042
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	ESR1	chr17:17484834-17485234	ECC-1	luminal epithelium:	n/a	chr17:17485048-17485063 chr17:17485048-17485065
2	ESR1	chr17:17484772-17485198	ECC-1	luminal epithelium:	n/a	chr17:17485048-17485063 chr17:17485048-17485065
3	FOSL2	chr17:17484894-17485328	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17481596..17485305-chr17:17490709..17495159,5	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56888695	1.00[AMR][1000 genomes]
rs57606281	1.00[AMR][1000 genomes]
rs58186401	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73300562	1.00[AMR][1000 genomes]
rs73300567	1.00[AMR][1000 genomes]
rs73300575	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
3	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17479800-17493400	Weak transcription	HMEC	breast
11	chr17:17480200-17490800	Weak transcription	NHEK	skin
12	chr17:17480200-17493000	Weak transcription	Brain Germinal Matrix	brain
13	chr17:17480200-17493600	Weak transcription	Esophagus	oesophagus
14	chr17:17480200-17493600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:17480400-17487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17480400-17492800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:17480400-17493400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:17480400-17493400	Weak transcription	Pancreas	Pancrea
19	chr17:17480400-17493600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:17480400-17493600	Weak transcription	Fetal Brain Female	brain
21	chr17:17480400-17493600	Weak transcription	Left Ventricle	heart
22	chr17:17480400-17493600	Weak transcription	Spleen	Spleen
23	chr17:17480400-17493600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:17480400-17493800	Weak transcription	Primary T cells from cord blood	blood
25	chr17:17480400-17493800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:17480400-17493800	Weak transcription	Colonic Mucosa	Colon
27	chr17:17480600-17486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:17480600-17487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:17480600-17492000	Weak transcription	Dnd41	blood
30	chr17:17480600-17493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:17480600-17493400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:17480600-17493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:17480600-17493400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr17:17480600-17493600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:17480600-17493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17480600-17493600	Weak transcription	NHLF	lung
37	chr17:17480800-17485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:17480800-17486000	Weak transcription	Brain Anterior Caudate	brain
39	chr17:17480800-17493200	Weak transcription	Lung	lung
40	chr17:17480800-17493800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr17:17481000-17494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:17483000-17485400	Enhancers	Placenta	Placenta
43	chr17:17483000-17485800	Enhancers	Fetal Muscle Leg	muscle
44	chr17:17483000-17486200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:17483000-17486400	Enhancers	Adipose Nuclei	Adipose
46	chr17:17483200-17485800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:17483200-17486200	Enhancers	Fetal Intestine Large	intestine
48	chr17:17483400-17485200	Flanking Active TSS	Liver	Liver
49	chr17:17483600-17494200	Weak transcription	Gastric	stomach
50	chr17:17483800-17485400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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