Variant report

Variant	rs4845573
Chromosome Location	chr1:153764700-153764701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:153764496-153764707	MCF10A-Er-Src	breast:	n/a	n/a
2	RCOR1	chr1:153762188-153764724	IMR90	lung:	n/a	n/a
3	MTA3	chr1:153761909-153764812	GM12878	blood:	n/a	n/a
4	SPI1	chr1:153763200-153764787	GM12878	blood:	n/a	chr1:153763826-153763833

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:153763846..153765824-chr1:153774129..153777112,2	MCF-7	breast:
2	chr1:153764439..153766738-chr1:153770528..153772998,3	K562	blood:
3	chr1:153762961..153765422-chr1:153766931..153769360,3	K562	blood:
4	chr1:153763023..153765210-chr1:153934889..153936709,2	MCF-7	breast:
5	chr1:153764458..153766239-chr1:153894173..153897068,2	K562	blood:
6	chr1:153763462..153765240-chr1:153961816..153964814,2	K562	blood:
7	chr1:153758281..153760333-chr1:153763925..153766016,2	K562	blood:
8	chr1:153763463..153765240-chr1:153962942..153964814,3	K562	blood:
9	chr1:153756292..153758003-chr1:153762929..153766093,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231827	TF binding region
ENSG00000207039	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000231827	Chromatin interaction
ENSG00000143570	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11264446	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12032791	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071117	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12564199	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs16835596	0.82[YRI][hapmap]
rs16835600	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4128790	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845584	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[EUR][1000 genomes]
rs59459240	0.92[EUR][1000 genomes]
rs60341318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60382526	0.80[EUR][1000 genomes]
rs6666957	0.88[EUR][1000 genomes]
rs6676863	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[YRI][hapmap];0.80[EUR][1000 genomes]
rs6693773	0.92[EUR][1000 genomes]
rs6695083	0.82[YRI][hapmap]
rs72042190	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7415816	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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
9	nsv515962	chr1:153752139-153773429	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153756600-153767000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153757000-153779200	Weak transcription	Dnd41	blood
3	chr1:153761800-153765400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:153762400-153776600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:153762600-153777600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:153762600-153777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:153762600-153779600	Weak transcription	Gastric	stomach
8	chr1:153762600-153779600	Weak transcription	Pancreas	Pancrea
9	chr1:153762800-153766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:153762800-153766600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:153763000-153765800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:153763000-153767600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:153763400-153765000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:153763400-153772000	Weak transcription	Lung	lung
15	chr1:153763600-153764800	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:153763600-153764800	Enhancers	Placenta	Placenta
17	chr1:153763600-153765000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:153763600-153765400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:153763600-153765400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:153763600-153765600	Enhancers	GM12878-XiMat	blood
21	chr1:153763600-153765800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:153763600-153771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:153763600-153772000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:153763600-153776800	Weak transcription	Right Atrium	heart
25	chr1:153763600-153777800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:153763600-153780000	Weak transcription	Aorta	Aorta
27	chr1:153763600-153780000	Weak transcription	Ovary	ovary
28	chr1:153763600-153780800	Weak transcription	Colonic Mucosa	Colon
29	chr1:153763800-153764800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:153763800-153767400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:153763800-153773200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:153763800-153779400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:153764000-153764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:153764000-153764800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:153764000-153765000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:153764000-153765200	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:153764000-153766000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:153764000-153768400	Weak transcription	Primary T cells from cord blood	blood
39	chr1:153764000-153777000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:153764000-153777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:153764000-153779600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:153764200-153764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:153764200-153764800	Enhancers	Spleen	Spleen
44	chr1:153764200-153764800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:153764200-153765400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:153764200-153765400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:153764200-153765600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:153764400-153764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:153764400-153764800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:153764400-153764800	Enhancers	Esophagus	oesophagus

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