Variant report

Variant	rs4845721
Chromosome Location	chr1:151969744-151969745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151968892-151969899	A549	lung:	n/a	n/a
2	SMC3	chr1:151968954-151969846	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:151969296-151969773	MCF-7	breast:	n/a	n/a
4	RAD21	chr1:151969133-151969801	HCT-116	colon:	n/a	n/a
5	RAD21	chr1:151969104-151969860	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:151969114-151969845	HCT-116	colon:	n/a	n/a
7	CTCF	chr1:151968947-151970188	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr1:151969126-151969820	HCT-116	colon:	n/a	n/a
9	RAD21	chr1:151969113-151969752	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr1:151969314-151969791	HCT-116	colon:	n/a	n/a
11	CTCF	chr1:151969724-151969745	Lung_OC	lung:	n/a	n/a
12	RAD21	chr1:151968971-151969771	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr1:151969036-151969794	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:151969160-151969850	MCF-7	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
2	chr1:151880282..151883329-chr1:151968741..151971419,4	MCF-7	breast:
3	chr1:151506991..151507812-chr1:151969379..151969971,2	K562	blood:
4	chr1:151905780..151907100-chr1:151968448..151969996,5	MCF-7	breast:
5	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
6	chr1:151939609..151941255-chr1:151968656..151969951,15	MCF-7	breast:
7	chr1:151803574..151806321-chr1:151969156..151972059,2	MCF-7	breast:
8	chr1:151968741..151969877-chr1:152024885..152025734,3	MCF-7	breast:
9	chr1:151940216..151941117-chr1:151968763..151970328,7	K562	blood:
10	chr1:151941380..151941902-chr1:151969422..151970066,2	MCF-7	breast:
11	chr1:151940183..151941316-chr1:151968276..151970256,10	MCF-7	breast:

No data

Variant related genes	Relation type
S100A10	TF binding region
ENSG00000163191	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1038745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833782	1.00[ASN][1000 genomes]
rs41264560	1.00[AMR][1000 genomes]
rs41265240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845417	1.00[AMR][1000 genomes]
rs4845720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151966800-151976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151967000-151969800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:151967000-151970200	Weak transcription	Right Atrium	heart
4	chr1:151967000-151970600	Weak transcription	Esophagus	oesophagus
5	chr1:151967000-151973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151967200-151969800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:151967200-151970200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:151967200-151973200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:151967200-151974000	Enhancers	HMEC	breast
11	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:151967800-151971000	Weak transcription	Stomach Mucosa	stomach
13	chr1:151967800-151973600	Enhancers	NHEK	skin
14	chr1:151967800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:151968000-151970200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:151968000-151970200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:151968000-151970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:151968000-151971600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:151968000-151973000	Weak transcription	Adipose Nuclei	Adipose
21	chr1:151968200-151970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:151968200-151971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:151968200-151971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:151968200-151971400	Weak transcription	NH-A	brain
25	chr1:151968200-151973000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:151968200-151973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:151968200-151973400	Weak transcription	HepG2	liver
28	chr1:151968200-151973400	Weak transcription	Osteobl	bone
29	chr1:151968200-151973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:151968400-151972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:151968600-151969800	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:151968600-151971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:151968600-151973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:151968600-151973600	Weak transcription	HSMM	muscle
35	chr1:151968800-151969800	Weak transcription	NHDF-Ad	bronchial
36	chr1:151968800-151971600	Enhancers	A549	lung
37	chr1:151968800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:151969200-151969800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:151969200-151969800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:151969400-151970200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:151969400-151970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:151969400-151970600	Weak transcription	Hela-S3	cervix
43	chr1:151969400-151971000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:151969400-151971400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:151969400-151971800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:151969400-151973800	Weak transcription	Placenta	Placenta

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