Variant report

Variant	rs70959697
Chromosome Location	chr17:17426645-17426646
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	CTCF	chr17:17426565-17427066	MCF-7	breast:	n/a	chr17:17426732-17426745 chr17:17426803-17426816 chr17:17426800-17426818
2	USF1	chr17:17426495-17427101	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr17:17426469-17426998	MCF-7	breast:	n/a	chr17:17426732-17426745 chr17:17426803-17426816 chr17:17426800-17426818
4	MAX	chr17:17426426-17427189	ECC-1	luminal epithelium:	n/a	chr17:17427010-17427020
5	ZNF263	chr17:17426006-17427055	HEK293-T-REx	kidney:	n/a	chr17:17426221-17426242 chr17:17426232-17426241
6	CTCF	chr17:17426560-17426710	HAc	cerebellar:	n/a	n/a
7	CTCF	chr17:17426616-17426860	HepG2	liver:	n/a	chr17:17426732-17426745 chr17:17426803-17426816 chr17:17426800-17426818
8	YY1	chr17:17426627-17427127	ECC-1	luminal epithelium:	n/a	chr17:17426808-17426816 chr17:17427016-17427027
9	TCF12	chr17:17426412-17427584	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr17:17426608-17426859	HepG2	liver:	n/a	chr17:17426802-17426816 chr17:17426730-17426749 chr17:17426801-17426820 chr17:17426806-17426818
11	TEAD4	chr17:17426400-17427333	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr17:17426503-17426920	MCF-7	breast:	n/a	chr17:17426802-17426816 chr17:17426730-17426749 chr17:17426801-17426820 chr17:17426806-17426818
13	TEAD4	chr17:17426529-17427326	ECC-1	luminal epithelium:	n/a	n/a
14	ZBTB7A	chr17:17426449-17427362	ECC-1	luminal epithelium:	n/a	n/a
15	FOXM1	chr17:17426513-17427413	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr17:17426625-17426883	MCF-7	breast:	n/a	chr17:17426732-17426745 chr17:17426803-17426816 chr17:17426800-17426818
17	CTCF	chr17:17426631-17426873	MCF-7	breast:	n/a	chr17:17426732-17426745 chr17:17426803-17426816 chr17:17426800-17426818
18	RAD21	chr17:17426479-17427214	ECC-1	luminal epithelium:	n/a	chr17:17426802-17426816 chr17:17426730-17426749 chr17:17426801-17426820 chr17:17426949-17426962 chr17:17426944-17426957 chr17:17426806-17426818
19	RAD21	chr17:17426564-17426842	SK-N-SH_RA	brain:	n/a	chr17:17426802-17426816 chr17:17426730-17426749 chr17:17426801-17426820 chr17:17426806-17426818
20	CEBPB	chr17:17426556-17427464	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr17:17426363-17427445	ECC-1	luminal epithelium:	n/a	chr17:17426843-17426857 chr17:17426999-17427015
22	NFIC	chr17:17426371-17427508	ECC-1	luminal epithelium:	n/a	chr17:17427108-17427136
23	MAX	chr17:17426454-17427242	ECC-1	luminal epithelium:	n/a	chr17:17427010-17427020
24	RAD21	chr17:17426578-17427059	ECC-1	luminal epithelium:	n/a	chr17:17426802-17426816 chr17:17426730-17426749 chr17:17426801-17426820 chr17:17426949-17426962 chr17:17426944-17426957 chr17:17426806-17426818
25	NFIC	chr17:17426462-17427481	ECC-1	luminal epithelium:	n/a	chr17:17427108-17427136
26	ZBTB7A	chr17:17426575-17427320	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr17:17426548-17427262	ECC-1	luminal epithelium:	n/a	chr17:17426843-17426857 chr17:17426999-17427015
28	FOXM1	chr17:17426618-17427374	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr17:17426640-17426790	HCPEpiC	choroid plexus:	n/a	chr17:17426732-17426745
30	TCF12	chr17:17426388-17427763	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17426099..17426869-chr17:17516971..17517681,2	MCF-7	breast:
2	chr17:17426329..17426903-chr17:17544918..17545575,2	MCF-7	breast:
3	chr17:17422447..17424302-chr17:17424957..17427591,2	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10401038	1.00[ASN][1000 genomes]
rs16961845	1.00[ASN][1000 genomes]
rs35301480	1.00[ASN][1000 genomes]
rs57304518	1.00[ASN][1000 genomes]
rs58167365	1.00[ASN][1000 genomes]
rs58494746	1.00[ASN][1000 genomes]
rs58729290	1.00[ASN][1000 genomes]
rs59913959	1.00[ASN][1000 genomes]
rs60456540	1.00[ASN][1000 genomes]
rs70963009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70963012	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210978	1.00[ASN][1000 genomes]
rs7214152	1.00[ASN][1000 genomes]
rs7215055	1.00[ASN][1000 genomes]
rs7216223	1.00[ASN][1000 genomes]
rs73296555	1.00[ASN][1000 genomes]
rs73296581	1.00[ASN][1000 genomes]
rs73298547	1.00[ASN][1000 genomes]
rs73298555	1.00[ASN][1000 genomes]
rs73298562	1.00[ASN][1000 genomes]
rs73298579	1.00[ASN][1000 genomes]
rs73978969	1.00[ASN][1000 genomes]
rs8064558	1.00[ASN][1000 genomes]
rs8081961	1.00[ASN][1000 genomes]
rs9889584	1.00[ASN][1000 genomes]
rs9889795	1.00[ASN][1000 genomes]
rs9893413	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9903468	1.00[ASN][1000 genomes]
rs9910747	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv907745	chr17:17411211-17429927	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv523094	chr17:17415217-17430649	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv524158	chr17:17420199-17430649	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17411000-17428600	Weak transcription	Brain Hippocampus Middle	brain
2	chr17:17411000-17428600	Weak transcription	Right Atrium	heart
3	chr17:17411000-17428800	Weak transcription	Brain Anterior Caudate	brain
4	chr17:17411400-17428600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
6	chr17:17417600-17429400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
8	chr17:17419400-17430800	Weak transcription	Placenta	Placenta
9	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17419800-17426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:17420000-17427000	Weak transcription	HepG2	liver
12	chr17:17420000-17428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:17420000-17429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:17420000-17429800	Weak transcription	Right Ventricle	heart
15	chr17:17420600-17434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:17421000-17439200	Weak transcription	HSMM	muscle
17	chr17:17421800-17427600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:17424000-17426800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:17424600-17426800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:17424600-17426800	Weak transcription	Fetal Brain Female	brain
21	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:17424800-17428600	Weak transcription	Esophagus	oesophagus
23	chr17:17424800-17428800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:17424800-17429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:17425000-17430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:17425000-17431200	Weak transcription	Spleen	Spleen
27	chr17:17425200-17427000	Enhancers	Fetal Thymus	thymus
28	chr17:17425200-17427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:17425400-17427000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17425400-17427200	Enhancers	Fetal Muscle Trunk	muscle
31	chr17:17425400-17427600	Enhancers	Pancreas	Pancrea
32	chr17:17425400-17429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:17425600-17427000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr17:17425600-17427000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr17:17425600-17427000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:17425600-17427200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:17425600-17427200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:17425600-17427400	Enhancers	Primary hematopoietic stem cells	blood
39	chr17:17425600-17427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:17425600-17427800	Enhancers	Fetal Muscle Leg	muscle
41	chr17:17425600-17429400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:17425800-17426800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr17:17425800-17427000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:17425800-17427000	Enhancers	Adipose Nuclei	Adipose
45	chr17:17425800-17427200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:17425800-17427400	Enhancers	Fetal Stomach	stomach
47	chr17:17425800-17427600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr17:17425800-17428600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:17425800-17428600	Weak transcription	Brain Germinal Matrix	brain
50	chr17:17425800-17429200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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