Variant report

Variant	rs56936807
Chromosome Location	chr1:147123238-147123239
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	chr1:147123165-147123696	ECC-1	luminal epithelium:	n/a	chr1:147123460-147123477
2	CEBPB	chr1:147123183-147123308	HepG2	liver:	n/a	n/a
3	NFIC	chr1:147122809-147123753	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr1:147123105-147124325	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr1:147123194-147123701	ECC-1	luminal epithelium:	n/a	chr1:147123460-147123477
6	TEAD4	chr1:147123129-147123810	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr1:147123212-147123864	ECC-1	luminal epithelium:	n/a	chr1:147123377-147123387
8	NFIC	chr1:147122954-147123855	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr1:147123143-147123857	ECC-1	luminal epithelium:	n/a	chr1:147123377-147123387
10	ESR1	chr1:147123220-147123727	ECC-1	luminal epithelium:	n/a	chr1:147123460-147123477

Variant related genes	Relation type
ACP6	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10465883	1.00[EUR][1000 genomes]
rs13374159	1.00[EUR][1000 genomes]
rs57359024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57463094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57515690	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58826432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59438946	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61657066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6673124	1.00[EUR][1000 genomes]
rs946905	1.00[EUR][1000 genomes]
rs946907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS 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	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv482606	chr1:146959127-147134517	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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
21	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
22	nsv831426	chr1:147089930-147265267	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147097600-147130000	Weak transcription	Stomach Mucosa	stomach
2	chr1:147097800-147124000	Weak transcription	Small Intestine	intestine
3	chr1:147109400-147124000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:147111000-147128400	Weak transcription	HUVEC	blood vessel
5	chr1:147112600-147124000	Weak transcription	HSMMtube	muscle
6	chr1:147113000-147136200	Weak transcription	NH-A	brain
7	chr1:147113000-147141400	Weak transcription	Fetal Brain Male	brain
8	chr1:147113200-147130800	Weak transcription	NHEK	skin
9	chr1:147113800-147123600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:147113800-147126200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:147114000-147141000	Weak transcription	Osteobl	bone
12	chr1:147114200-147133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:147114400-147124800	Strong transcription	Liver	Liver
14	chr1:147117200-147131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:147117600-147124600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:147117800-147130400	Weak transcription	NHLF	lung
17	chr1:147118000-147133800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:147118200-147136600	Weak transcription	HSMM	muscle
19	chr1:147118400-147124400	Strong transcription	Left Ventricle	heart
20	chr1:147118400-147124600	Strong transcription	Fetal Stomach	stomach
21	chr1:147118400-147125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:147118600-147127600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:147118600-147130400	Weak transcription	GM12878-XiMat	blood
24	chr1:147118800-147124000	Weak transcription	Dnd41	blood
25	chr1:147118800-147124800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:147118800-147136600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:147119000-147124600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:147119000-147128200	Strong transcription	Fetal Intestine Small	intestine
29	chr1:147119000-147131800	Weak transcription	Fetal Heart	heart
30	chr1:147119000-147132000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:147119000-147132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:147119200-147124400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr1:147119200-147124400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:147119200-147124400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:147119200-147124600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:147119200-147124600	Strong transcription	Pancreas	Pancrea
37	chr1:147119400-147124000	Strong transcription	Lung	lung
38	chr1:147119400-147124400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:147119400-147124400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:147119400-147124400	Strong transcription	Aorta	Aorta
41	chr1:147119400-147124400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:147119400-147124400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:147119400-147124600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:147119400-147124600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:147119400-147127400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:147119600-147124400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:147119600-147124400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:147119600-147124400	Strong transcription	Esophagus	oesophagus
49	chr1:147119600-147124400	Strong transcription	Gastric	stomach
50	chr1:147119600-147124600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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