Variant report

Variant	rs7545392
Chromosome Location	chr1:151310255-151310256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151309769-151310484	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:151309826-151310317	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151309311..151311085-chr1:151318646..151320644,2	K562	blood:
2	chr1:151308517..151311546-chr1:151316826..151318558,3	K562	blood:
3	chr1:151283025..151284616-chr1:151308407..151310416,2	MCF-7	breast:
4	chr1:151299980..151303180-chr1:151310152..151314785,6	MCF-7	breast:
5	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
6	chr1:151298320..151299867-chr1:151309912..151312555,2	MCF-7	breast:
7	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000224645	TF binding region
ENSG00000273481	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143390	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1056847	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10749660	0.90[JPT][hapmap]
rs10788801	0.81[JPT][hapmap]
rs10788803	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10788804	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10888408	0.95[JPT][hapmap]
rs10888409	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888410	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs10888411	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11204785	0.90[JPT][hapmap]
rs11204791	0.95[JPT][hapmap]
rs11204795	0.83[EUR][1000 genomes]
rs11587157	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12069445	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1536617	0.86[JPT][hapmap]
rs16827941	0.90[JPT][hapmap]
rs1752387	0.90[JPT][hapmap]
rs2031797	0.86[JPT][hapmap]
rs2275900	0.95[JPT][hapmap]
rs3811405	0.81[JPT][hapmap]
rs3811406	0.86[JPT][hapmap]
rs4246525	0.91[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs4520422	0.90[JPT][hapmap]
rs4522000	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4636463	0.86[JPT][hapmap]
rs4970944	0.90[JPT][hapmap]
rs4970948	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4970949	0.87[EUR][1000 genomes]
rs4971013	0.90[JPT][hapmap]
rs4971023	0.91[JPT][hapmap]
rs4971027	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs4971029	0.87[JPT][hapmap]
rs4971030	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4971031	0.88[EUR][1000 genomes]
rs4971032	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4971033	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5022636	0.87[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6587559	0.90[JPT][hapmap]
rs6587562	0.95[JPT][hapmap]
rs6677686	0.87[EUR][1000 genomes]
rs6678528	0.83[JPT][hapmap]
rs6686402	0.90[JPT][hapmap]
rs6695344	0.86[JPT][hapmap]
rs744536	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7518924	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7527032	0.90[JPT][hapmap]
rs7531495	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7532935	0.90[JPT][hapmap]
rs7539584	0.90[JPT][hapmap]
rs7544947	0.90[JPT][hapmap]
rs7552906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943637	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151301000-151315000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151301200-151313000	Weak transcription	Fetal Thymus	thymus
3	chr1:151301200-151313200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151301200-151313200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:151301200-151313200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:151301200-151314000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:151301200-151314000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:151301200-151314800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:151301200-151314800	Weak transcription	Gastric	stomach
10	chr1:151301200-151315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151301200-151315600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
13	chr1:151301400-151312400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:151301400-151312800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:151301400-151313000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:151301400-151313400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:151301400-151314800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:151301400-151314800	Weak transcription	Fetal Stomach	stomach
19	chr1:151301400-151316000	Weak transcription	Fetal Kidney	kidney
20	chr1:151301600-151313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:151301600-151313200	Weak transcription	Brain Anterior Caudate	brain
22	chr1:151303400-151312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151306000-151315000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151307000-151313200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:151308600-151314000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:151309200-151314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:151309200-151314600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:151309600-151314400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:151310200-151314400	Weak transcription	Fetal Brain Female	brain

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