Variant report

Variant	rs4845720
Chromosome Location	chr1:151967676-151967677
allele	A/T
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	RCOR1	chr1:151967470-151967868	Hela-S3	cervix:	n/a	n/a
2	MYC	chr1:151967429-151967771	MCF10A-Er-Src	breast:	n/a	chr1:151967456-151967466
3	NR3C1	chr1:151967443-151967825	A549	lung:	n/a	n/a
4	FOS	chr1:151967386-151967892	MCF10A-Er-Src	breast:	n/a	chr1:151967485-151967496 chr1:151967484-151967492 chr1:151967458-151967467
5	REST	chr1:151967329-151968134	PANC-1	pancreas:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
6	CHD2	chr1:151967461-151967792	Hela-S3	cervix:	n/a	n/a
7	BCL3	chr1:151967331-151967984	A549	lung:	n/a	n/a
8	TEAD4	chr1:151967261-151967961	SK-N-SH	brain:	n/a	n/a
9	REST	chr1:151967514-151967818	U87	brain:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
10	STAT3	chr1:151967357-151967894	MCF10A-Er-Src	breast:	n/a	chr1:151967656-151967667 chr1:151967452-151967464
11	POLR2A	chr1:151967398-151967942	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr1:151963929-151968128	A549	lung:	n/a	chr1:151964984-151964991
13	REST	chr1:151967477-151967826	H1-hESC	embryonic stem cell:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
14	CEBPB	chr1:151967515-151967926	A549	lung:	n/a	n/a
15	POLR2A	chr1:151967298-151968152	PANC-1	pancreas:	n/a	n/a
16	SIN3AK20	chr1:151967329-151967838	PANC-1	pancreas:	n/a	n/a
17	GABPA	chr1:151967346-151967816	A549	lung:	n/a	chr1:151967457-151967466
18	REST	chr1:151967432-151967948	HL-60	blood:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
19	ATF3	chr1:151967347-151967909	A549	lung:	n/a	n/a
20	BCL3	chr1:151967315-151967962	A549	lung:	n/a	n/a
21	REST	chr1:151967507-151967845	H1-hESC	embryonic stem cell:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
22	REST	chr1:151967498-151967834	U87	brain:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
23	MAFK	chr1:151967466-151967878	Hela-S3	cervix:	n/a	chr1:151967709-151967723
24	BRCA1	chr1:151967469-151967859	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr1:151967494-151967963	Hela-S3	cervix:	n/a	chr1:151967656-151967671 chr1:151967654-151967669
26	FOSL1	chr1:151967270-151968006	HCT-116	colon:	n/a	chr1:151967485-151967496 chr1:151967484-151967492 chr1:151967458-151967467
27	JUND	chr1:151967265-151967944	SK-N-SH	brain:	n/a	chr1:151967485-151967496 chr1:151967484-151967492 chr1:151967458-151967467
28	RAD21	chr1:151967417-151967884	A549	lung:	n/a	n/a
29	POLR2A	chr1:151967429-151967709	HCT-116	colon:	n/a	n/a
30	MYC	chr1:151967404-151967822	MCF10A-Er-Src	breast:	n/a	chr1:151967456-151967466
31	FOSL2	chr1:151967326-151968033	SK-N-SH	brain:	n/a	chr1:151967485-151967496 chr1:151967484-151967492 chr1:151967458-151967467
32	TAF1	chr1:151967449-151967756	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr1:151967325-151967839	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr1:151960197-151968028	U87	brain:	n/a	n/a
35	STAT3	chr1:151967337-151967813	MCF10A-Er-Src	breast:	n/a	chr1:151967656-151967667 chr1:151967452-151967464
36	JUND	chr1:151967366-151967851	A549	lung:	n/a	chr1:151967485-151967496 chr1:151967484-151967492 chr1:151967458-151967467
37	POLR2A	chr1:151967416-151967900	Hela-S3	cervix:	n/a	n/a
38	REST	chr1:151967449-151967872	SK-N-SH	brain:	n/a	chr1:151967704-151967714 chr1:151967726-151967735 chr1:151967702-151967716
39	EP300	chr1:151967321-151968049	A549	lung:	n/a	n/a
40	POLR2A	chr1:151967499-151967725	MCF10A-Er-Src	breast:	n/a	n/a
41	SIN3AK20	chr1:151967355-151967955	A549	lung:	n/a	n/a
42	EP300	chr1:151967367-151967992	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr1:151967297-151967865	A549	lung:	n/a	n/a
44	TCF7L2	chr1:151967568-151967768	PANC-1	pancreas:	n/a	n/a
45	SIX5	chr1:151967203-151967982	A549	lung:	n/a	n/a
46	PBX3	chr1:151967307-151967922	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr1:151967344-151967821	A549	lung:	n/a	n/a
48	NR3C1	chr1:151967444-151967845	A549	lung:	n/a	n/a
49	FOS	chr1:151967463-151967829	HUVEC	blood vessel:	n/a	chr1:151967485-151967496 chr1:151967484-151967492
50	MAX	chr1:151967275-151967928	A549	lung:	n/a	chr1:151967456-151967466

No.	Distal block	Cell Line	Cell type
1	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
2	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
3	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
4	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:

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

Extended variants
information (count: 17 )
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]
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:5 , 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
5	esv3377930	chr1:151965153-151967701	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151966400-151968000	Enhancers	Spleen	Spleen
2	chr1:151966600-151967800	Enhancers	Small Intestine	intestine
3	chr1:151966800-151968000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:151966800-151968200	Enhancers	HSMMtube	muscle
5	chr1:151966800-151976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:151967000-151967800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:151967000-151967800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:151967000-151967800	Enhancers	Colonic Mucosa	Colon
9	chr1:151967000-151967800	Enhancers	Fetal Muscle Leg	muscle
10	chr1:151967000-151967800	Enhancers	Placenta	Placenta
11	chr1:151967000-151968000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:151967000-151968000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:151967000-151968000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:151967000-151968000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:151967000-151968000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:151967000-151968000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:151967000-151968000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:151967000-151968000	Enhancers	Left Ventricle	heart
19	chr1:151967000-151968000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:151967000-151968000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:151967000-151968000	Enhancers	HUVEC	blood vessel
22	chr1:151967000-151968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151967000-151968800	Enhancers	NHLF	lung
24	chr1:151967000-151969800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:151967000-151970200	Weak transcription	Right Atrium	heart
26	chr1:151967000-151970600	Weak transcription	Esophagus	oesophagus
27	chr1:151967000-151973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:151967200-151967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:151967200-151967800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:151967200-151968000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:151967200-151968000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:151967200-151968000	Enhancers	Adipose Nuclei	Adipose
34	chr1:151967200-151968200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:151967200-151968200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:151967200-151968200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:151967200-151968200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:151967200-151968200	Enhancers	HepG2	liver
39	chr1:151967200-151968200	Enhancers	NH-A	brain
40	chr1:151967200-151968200	Enhancers	Osteobl	bone
41	chr1:151967200-151968400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:151967200-151968400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:151967200-151968600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:151967200-151968600	Enhancers	HSMM	muscle
45	chr1:151967200-151968800	Enhancers	Fetal Intestine Small	intestine
46	chr1:151967200-151968800	Enhancers	NHDF-Ad	bronchial
47	chr1:151967200-151969200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:151967200-151969400	Enhancers	Fetal Intestine Large	intestine
49	chr1:151967200-151969800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:151967200-151970200	Enhancers	Rectal Mucosa Donor 31	rectum

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