Variant report

Variant	rs537971615
Chromosome Location	chr1:151345903-151345904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:151345650-151345906	HepG2	liver:	n/a	n/a
2	BCL3	chr1:151345733-151346070	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:151345522-151346062	HepG2	liver:	n/a	n/a
4	MYC	chr1:151345761-151345911	H1-hESC	embryonic stem cell:	n/a	n/a
5	PBX3	chr1:151345748-151346041	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
2	chr1:151253287..151255470-chr1:151344558..151346132,2	MCF-7	breast:
3	chr1:151312776..151315996-chr1:151344524..151347605,3	MCF-7	breast:
4	chr1:151161951..151163611-chr1:151344546..151346783,2	MCF-7	breast:
5	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
6	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:
7	chr1:151298391..151300174-chr1:151343656..151346785,4	MCF-7	breast:
8	chr1:151340916..151343487-chr1:151343853..151346001,2	MCF-7	breast:
9	1:151333184-151350267..1:151592347-151603110	K562	blood:
10	chr1:151340503..151343136-chr1:151343197..151345914,3	K562	blood:
11	chr1:151343373..151350462-chr1:151369795..151376328,11	MCF-7	breast:
12	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:

No data

Variant related genes	Relation type
SELENBP1	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000163159	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:38 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv441714	chr1:151336699-151397878	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
31	esv2753719	chr1:151337788-151373200	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
32	nsv463839	chr1:151338570-151404848	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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
33	nsv547851	chr1:151338570-151404848	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
34	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers 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
35	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
36	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
37	esv3408226	chr1:151343628-151348026	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
38	esv3423838	chr1:151344778-151347276	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151342400-151346400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:151342400-151346600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151343200-151346600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr1:151343600-151346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:151344000-151346200	Enhancers	Fetal Brain Male	brain
6	chr1:151345000-151346000	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:151345200-151346000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:151345200-151346000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:151345200-151346000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:151345200-151346000	Enhancers	Fetal Lung	lung
11	chr1:151345200-151346000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:151345200-151346000	Enhancers	Placenta	Placenta
13	chr1:151345200-151346000	Enhancers	Left Ventricle	heart
14	chr1:151345200-151346000	Enhancers	Pancreas	Pancrea
15	chr1:151345200-151346000	Enhancers	Right Atrium	heart
16	chr1:151345200-151346000	Enhancers	Spleen	Spleen
17	chr1:151345200-151346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:151345200-151346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:151345200-151346200	Enhancers	Liver	Liver
20	chr1:151345200-151346200	Enhancers	Fetal Heart	heart
21	chr1:151345200-151346200	Enhancers	Fetal Intestine Large	intestine
22	chr1:151345200-151346200	Weak transcription	Fetal Thymus	thymus
23	chr1:151345200-151346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:151345200-151346400	Weak transcription	Fetal Brain Female	brain
25	chr1:151345200-151346600	Enhancers	Brain Anterior Caudate	brain
26	chr1:151345200-151346600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:151345200-151346600	Enhancers	Esophagus	oesophagus
28	chr1:151345200-151347000	Enhancers	Brain Germinal Matrix	brain
29	chr1:151345200-151347000	Enhancers	Brain Hippocampus Middle	brain
30	chr1:151345200-151347000	Enhancers	Fetal Intestine Small	intestine
31	chr1:151345200-151347000	Enhancers	Lung	lung
32	chr1:151345200-151347000	Enhancers	Stomach Mucosa	stomach
33	chr1:151345400-151346000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:151345400-151346000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:151345400-151346000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:151345400-151346000	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:151345400-151346000	Enhancers	Right Ventricle	heart
38	chr1:151345400-151346000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:151345400-151346000	Enhancers	Hela-S3	cervix
40	chr1:151345400-151346400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:151345400-151346400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:151345400-151346400	Enhancers	Adipose Nuclei	Adipose
43	chr1:151345400-151346600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:151345400-151346600	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:151345400-151346600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:151345400-151346600	Enhancers	A549	lung
47	chr1:151345400-151346800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:151345400-151346800	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:151345400-151346800	Enhancers	Gastric	stomach
50	chr1:151345400-151346800	Enhancers	K562	blood

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