Variant report

Variant	rs897453
Chromosome Location	chr17:17425631-17425632
allele	A/C/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	ZNF263	chr17:17425416-17425700	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17417655..17420606-chr17:17424227..17426115,2	K562	blood:
2	chr17:17422447..17424302-chr17:17424957..17427591,2	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11078388	0.80[EUR][1000 genomes]
rs1108579	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11869142	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656361	0.80[EUR][1000 genomes]
rs3785499	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4646403	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4646404	1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs4646406	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9908984	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17410200-17426400	Weak transcription	Fetal Intestine Large	intestine
2	chr17:17411000-17428600	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:17411000-17428600	Weak transcription	Right Atrium	heart
4	chr17:17411000-17428800	Weak transcription	Brain Anterior Caudate	brain
5	chr17:17411400-17428600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
7	chr17:17415000-17425800	Weak transcription	Dnd41	blood
8	chr17:17415000-17426000	Strong transcription	Liver	Liver
9	chr17:17417600-17429400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
11	chr17:17419200-17425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:17419200-17426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17419400-17426400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:17419400-17430800	Weak transcription	Placenta	Placenta
15	chr17:17419600-17425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:17419800-17426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:17420000-17425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:17420000-17426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:17420000-17426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:17420000-17426400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:17420000-17426600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17420000-17427000	Weak transcription	HepG2	liver
24	chr17:17420000-17428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr17:17420000-17429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:17420000-17429800	Weak transcription	Right Ventricle	heart
27	chr17:17420400-17426200	Strong transcription	Fetal Intestine Small	intestine
28	chr17:17420600-17426400	Weak transcription	Stomach Mucosa	stomach
29	chr17:17420600-17434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:17421000-17439200	Weak transcription	HSMM	muscle
31	chr17:17421800-17427600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:17422200-17426000	Weak transcription	Fetal Heart	heart
33	chr17:17422400-17425800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:17423800-17425800	Strong transcription	Brain Germinal Matrix	brain
35	chr17:17424000-17425800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:17424000-17425800	Strong transcription	Gastric	stomach
37	chr17:17424000-17426800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:17424400-17426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:17424600-17426800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:17424600-17426800	Weak transcription	Fetal Brain Female	brain
41	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:17424800-17426000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:17424800-17426200	Weak transcription	Ovary	ovary
44	chr17:17424800-17426600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:17424800-17428600	Weak transcription	Esophagus	oesophagus
46	chr17:17424800-17428800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr17:17424800-17429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:17425000-17426200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:17425000-17430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:17425000-17431200	Weak transcription	Spleen	Spleen

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