Variant report

Variant	rs4845359
Chromosome Location	chr1:153966459-153966460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153965956-153967991	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:153966136-153966700	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:153965118-153967275	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:153962781-153968523	GM12892	blood:	n/a	n/a
5	ATF2	chr1:153966191-153966781	H1-hESC	embryonic stem cell:	n/a	n/a
6	PML	chr1:153966017-153966972	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:153962895-153968418	K562	blood:	n/a	n/a
8	POLR2A	chr1:153965873-153968470	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:153966143-153966991	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:153966058-153966668	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:153962997-153968485	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:153965956-153966850	U87	brain:	n/a	n/a
13	POU2F2	chr1:153966060-153966464	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:153966149-153966606	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:153966056-153967215	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:153966076-153967256	K562	blood:	n/a	n/a
17	POLR2A	chr1:153965885-153968440	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:153966275-153966718	HL-60	blood:	n/a	n/a
19	POLR2A	chr1:153965580-153967871	K562	blood:	n/a	n/a
20	POLR2A	chr1:153965052-153967793	GM18505	blood:	n/a	n/a
21	POLR2A	chr1:153965057-153968372	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:153966162-153966668	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:153964943-153967891	K562	blood:	n/a	n/a
24	POLR2A	chr1:153964976-153968525	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr1:153966060-153967131	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:153966240-153966844	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:153965183-153968489	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:153965066-153967273	GM12878	blood:	n/a	n/a
29	MTA3	chr1:153965939-153967318	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153962877-153968982	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:153965957-153967254	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:153966067-153967267	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:153966021-153966521	ProgFib	skin:	n/a	n/a
34	POLR2A	chr1:153966357-153966813	K562	blood:	n/a	n/a
35	POLR2A	chr1:153965880-153967410	U87	brain:	n/a	n/a
36	JUND	chr1:153966306-153966490	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:153966387-153966482	A549	lung:	n/a	n/a
38	POLR2A	chr1:153966087-153966750	HCT-116	colon:	n/a	n/a
39	POLR2A	chr1:153962912-153967853	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:153962884-153969250	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:153964793-153967747	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:153962902-153967332	GM12892	blood:	n/a	n/a
43	POLR2A	chr1:153966206-153966467	A549	lung:	n/a	n/a
44	POLR2A	chr1:153962875-153969575	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:153962850-153967268	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:153966073-153968235	Hela-S3	cervix:	n/a	n/a
47	HEY1	chr1:153965998-153966852	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:153966101-153966875	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr1:153965069-153969409	A549	lung:	n/a	n/a
50	HEY1	chr1:153965994-153967011	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153966124..153968225-chr1:154141847..154143966,3	K562	blood:
2	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
3	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
4	chr1:153964844..153966669-chr1:154089731..154091606,2	MCF-7	breast:
5	chr1:153966171..153967933-chr1:153980339..153982819,2	MCF-7	breast:
6	chr1:153962189..153967020-chr1:154149779..154153923,7	MCF-7	breast:
7	chr1:153966341..153968649-chr1:154153580..154156511,2	K562	blood:
8	chr1:153965322..153967162-chr1:154193447..154195978,2	K562	blood:
9	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231416	TF binding region
ENSG00000143554	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11264299	1.00[ASN][1000 genomes]
rs11264336	1.00[ASN][1000 genomes]
rs12076697	1.00[ASN][1000 genomes]
rs2318436	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55658698	1.00[ASN][1000 genomes]
rs55778008	1.00[ASN][1000 genomes]
rs56910871	1.00[ASN][1000 genomes]
rs60316596	1.00[ASN][1000 genomes]
rs61803563	1.00[ASN][1000 genomes]
rs61803565	1.00[ASN][1000 genomes]
rs61803566	1.00[ASN][1000 genomes]
rs61803567	1.00[ASN][1000 genomes]
rs61803571	1.00[ASN][1000 genomes]
rs6663988	1.00[ASN][1000 genomes]
rs6672371	1.00[ASN][1000 genomes]
rs6689176	1.00[ASN][1000 genomes]
rs7515716	1.00[ASN][1000 genomes]
rs7556155	1.00[ASN][1000 genomes]
rs7556575	1.00[ASN][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153963400-153966800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:153964000-153969800	Weak transcription	Esophagus	oesophagus
3	chr1:153964200-153966800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:153964200-153969000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:153964400-153966600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr1:153964400-153967600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:153964400-153968400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:153964600-153966600	Genic enhancers	Placenta	Placenta
9	chr1:153964600-153966800	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr1:153964600-153966800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:153964600-153968400	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:153964600-153968400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:153964600-153968400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:153964600-153968400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:153964600-153968400	Strong transcription	Thymus	Thymus
16	chr1:153964600-153969000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:153964800-153966600	Genic enhancers	Brain Hippocampus Middle	brain
18	chr1:153964800-153966800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:153964800-153966800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:153964800-153967800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:153964800-153968400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:153964800-153968400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:153965000-153968400	Strong transcription	Aorta	Aorta
24	chr1:153965200-153967800	Strong transcription	Gastric	stomach
25	chr1:153965200-153968600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:153965400-153966800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:153965400-153966800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:153965400-153966800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:153965400-153966800	Strong transcription	Colonic Mucosa	Colon
30	chr1:153965400-153966800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:153965400-153966800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:153965400-153966800	Strong transcription	HSMM	muscle
33	chr1:153965400-153966800	Strong transcription	HSMMtube	muscle
34	chr1:153965400-153967200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:153965400-153967200	Strong transcription	Fetal Lung	lung
36	chr1:153965400-153967400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:153965400-153967600	Strong transcription	Pancreas	Pancrea
38	chr1:153965400-153967800	Weak transcription	Right Ventricle	heart
39	chr1:153965400-153968000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:153965400-153968200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr1:153965400-153968400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:153965400-153968400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:153965400-153968400	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:153965400-153968400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:153965400-153968800	Strong transcription	Fetal Brain Female	brain
46	chr1:153965400-153972800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:153965400-153973000	Weak transcription	Stomach Mucosa	stomach
48	chr1:153965600-153966600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:153965600-153966600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:153965600-153966600	Weak transcription	Brain Germinal Matrix	brain

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