Variant report

Variant	rs41265240
Chromosome Location	chr1:151971216-151971217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:151971144-151971868	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF12	chr1:151971088-151971999	A549	lung:	n/a	n/a
3	NR2F2	chr1:151970551-151971953	MCF-7	breast:	n/a	n/a
4	FOSL2	chr1:151971005-151971936	A549	lung:	n/a	n/a
5	EP300	chr1:151971140-151972000	A549	lung:	n/a	chr1:151971783-151971797
6	TEAD4	chr1:151971087-151971821	A549	lung:	n/a	n/a
7	MAX	chr1:151971167-151972355	A549	lung:	n/a	chr1:151971637-151971646
8	EP300	chr1:151971039-151971947	A549	lung:	n/a	chr1:151971783-151971797
9	MAX	chr1:151971183-151971896	A549	lung:	n/a	chr1:151971637-151971646
10	GATA3	chr1:151971009-151972064	MCF-7	breast:	n/a	n/a
11	TCF12	chr1:151971128-151971922	ECC-1	luminal epithelium:	n/a	n/a
12	NR2F2	chr1:151971132-151971952	MCF-7	breast:	n/a	n/a
13	SP1	chr1:151971127-151971894	A549	lung:	n/a	n/a
14	TEAD4	chr1:151970912-151971866	ECC-1	luminal epithelium:	n/a	n/a
15	SP1	chr1:151971140-151971889	A549	lung:	n/a	n/a
16	GATA3	chr1:151970979-151971934	MCF-7	breast:	n/a	n/a
17	EP300	chr1:151970995-151971932	ECC-1	luminal epithelium:	n/a	chr1:151971783-151971797
18	CEBPB	chr1:151971185-151971983	MCF-7	breast:	n/a	chr1:151971529-151971546
19	FOSL2	chr1:151971063-151971946	MCF-7	breast:	n/a	n/a
20	TEAD4	chr1:151971021-151971889	ECC-1	luminal epithelium:	n/a	n/a
21	FOSL2	chr1:151970596-151971930	MCF-7	breast:	n/a	n/a
22	JUND	chr1:151971042-151972024	MCF-7	breast:	n/a	n/a
23	GATA3	chr1:151970976-151971973	A549	lung:	n/a	n/a
24	FOS	chr1:151971126-151971861	MCF10A-Er-Src	breast:	n/a	n/a
25	REST	chr1:151971102-151971691	A549	lung:	n/a	n/a
26	BCL3	chr1:151971035-151971875	A549	lung:	n/a	n/a
27	CEBPB	chr1:151971050-151971886	MCF-7	breast:	n/a	chr1:151971529-151971546

No data

(count:8 , 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	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
4	chr1:151905903..151909731-chr1:151970506..151972835,3	MCF-7	breast:
5	chr1:151969792..151972069-chr1:152018129..152020747,2	K562	blood:
6	chr1:151803574..151806321-chr1:151969156..151972059,2	MCF-7	breast:
7	chr1:151859844..151863422-chr1:151970039..151972808,5	MCF-7	breast:
8	chr1:151823821..151827198-chr1:151970881..151974396,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-3	chr1:151971184-151971297	ENSG00000229021.2

No data

Variant related genes	Relation type
S100A10	TF binding region
ENSG00000159445	Chromatin interaction
ENSG00000196407	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143365	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]
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]
rs4845721	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:38 , 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	chr1:151967000-151973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:151967200-151973200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:151967200-151974000	Enhancers	HMEC	breast
6	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:151967800-151973600	Enhancers	NHEK	skin
8	chr1:151967800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:151968000-151971600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:151968000-151973000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:151968200-151971400	Weak transcription	NH-A	brain
13	chr1:151968200-151973000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:151968200-151973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:151968200-151973400	Weak transcription	HepG2	liver
16	chr1:151968200-151973400	Weak transcription	Osteobl	bone
17	chr1:151968200-151973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:151968400-151972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:151968600-151973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:151968600-151973600	Weak transcription	HSMM	muscle
21	chr1:151968800-151971600	Enhancers	A549	lung
22	chr1:151968800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151969400-151971400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:151969400-151971800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:151969400-151973800	Weak transcription	Placenta	Placenta
26	chr1:151969800-151971400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:151970200-151972000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:151970200-151972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:151970200-151973000	Weak transcription	NHDF-Ad	bronchial
30	chr1:151970600-151972800	Enhancers	Hela-S3	cervix
31	chr1:151970800-151971400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:151970800-151972000	Weak transcription	Esophagus	oesophagus
33	chr1:151970800-151972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:151971000-151972000	Enhancers	Stomach Mucosa	stomach
35	chr1:151971000-151972400	Enhancers	Fetal Intestine Large	intestine
36	chr1:151971000-151974400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:151971200-151971800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:151971200-151972000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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