Variant report

Variant	rs545704003
Chromosome Location	chr1:151335119-151335120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151334122..151336931-chr1:151349089..151351816,2	K562	blood:
2	chr1:151334136..151338213-chr1:151347669..151350682,3	MCF-7	breast:
3	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
4	1:151333184-151350267..1:151592347-151603110	K562	blood:
5	chr1:151318592..151320485-chr1:151334985..151336873,2	MCF-7	breast:
6	chr1:151334927..151336812-chr1:151340027..151342817,3	K562	blood:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000206635	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv438026	chr1:151318733-151344703	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv872426	chr1:151329138-151355858	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv872427	chr1:151329138-151371305	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv872428	chr1:151329138-151395782	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv2753659	chr1:151330927-151384927	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv824575	chr1:151331533-151408096	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv463761	chr1:151333167-151404848	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv463772	chr1:151333167-151404848	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv463783	chr1:151333167-151404848	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv463794	chr1:151333167-151404848	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv463805	chr1:151333167-151404848	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv463816	chr1:151333167-151404848	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv470737	chr1:151333167-151404848	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv547849	chr1:151333167-151404848	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv818467	chr1:151333167-151404848	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
28	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
29	nsv1011398	chr1:151333430-151402839	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
30	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151328400-151336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:151329400-151340600	Weak transcription	Osteobl	bone
3	chr1:151329600-151336600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:151329600-151336800	Weak transcription	Colonic Mucosa	Colon
5	chr1:151332200-151340000	Weak transcription	Fetal Heart	heart
6	chr1:151332600-151336200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151333200-151336800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:151333800-151335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:151334000-151336000	Weak transcription	Left Ventricle	heart
10	chr1:151334000-151336000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:151334400-151335600	ZNF genes & repeats	K562	blood
12	chr1:151334400-151336400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:151334400-151341600	Strong transcription	Fetal Lung	lung
14	chr1:151334600-151335200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
15	chr1:151334600-151335200	ZNF genes & repeats	Brain Substantia Nigra	brain
16	chr1:151334600-151335200	ZNF genes & repeats	Pancreas	Pancrea
17	chr1:151334600-151335200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr1:151334600-151335400	ZNF genes & repeats	Gastric	stomach
19	chr1:151334600-151335400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:151334600-151335400	ZNF genes & repeats	Spleen	Spleen
21	chr1:151334600-151335600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:151334600-151335600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:151334600-151335600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:151334600-151335600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr1:151334600-151335600	ZNF genes & repeats	Esophagus	oesophagus
26	chr1:151334600-151335600	ZNF genes & repeats	Lung	lung
27	chr1:151334600-151335800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:151334600-151335800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:151334600-151336000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:151334600-151336200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr1:151334600-151337000	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr1:151334600-151337200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr1:151334600-151340000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:151334800-151335200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:151334800-151335200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr1:151334800-151335200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:151334800-151335200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr1:151334800-151335400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:151334800-151335400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:151334800-151335400	ZNF genes & repeats	Liver	Liver
41	chr1:151334800-151335600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr1:151334800-151335600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:151334800-151335600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr1:151334800-151335600	ZNF genes & repeats	Fetal Stomach	stomach
45	chr1:151334800-151336200	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr1:151334800-151336200	ZNF genes & repeats	Placenta	Placenta
47	chr1:151334800-151336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:151334800-151336800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:151334800-151336800	Weak transcription	Stomach Mucosa	stomach
50	chr1:151334800-151337200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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