Variant report

Variant	rs1752387
Chromosome Location	chr1:151314379-151314380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151273432..151279540-chr1:151311017..151317396,9	MCF-7	breast:
2	chr1:151313070..151315906-chr1:234744981..234746645,2	MCF-7	breast:
3	chr1:151272720..151276474-chr1:151311902..151314957,3	K562	blood:
4	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
5	chr1:151263880..151268121-chr1:151311967..151315494,5	MCF-7	breast:
6	chr1:151313518..151316367-chr1:151341294..151344531,3	MCF-7	breast:
7	chr1:151314289..151316701-chr1:151321408..151323324,2	MCF-7	breast:
8	chr1:151253109..151257431-chr1:151311446..151315369,6	MCF-7	breast:
9	chr1:151302813..151304783-chr1:151313875..151316728,2	K562	blood:
10	chr1:151313664..151315822-chr1:151337463..151339471,3	MCF-7	breast:
11	chr1:151299980..151303180-chr1:151310152..151314785,6	MCF-7	breast:
12	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
13	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
14	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
15	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
16	chr1:151226640..151228529-chr1:151313370..151316215,2	MCF-7	breast:
17	chr1:151312776..151315996-chr1:151344524..151347605,3	MCF-7	breast:
18	chr1:151269975..151273254-chr1:151312272..151315757,4	MCF-7	breast:
19	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
20	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
21	chr1:151313762..151315694-chr1:151431128..151433182,2	MCF-7	breast:
22	chr1:151313790..151315943-chr1:151511775..151514489,2	MCF-7	breast:
23	chr1:151313499..151316475-chr1:151369793..151372161,3	MCF-7	breast:
24	chr1:151262167..151264469-chr1:151313266..151316193,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF687-1	chr1:151314340-151314442	ENSG00000224645.1

No data

Variant related genes	Relation type
ENSG00000143416	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000168264	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1056847	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs10749660	0.81[JPT][hapmap]
rs10788801	0.90[JPT][hapmap]
rs10788803	0.85[JPT][hapmap]
rs10788804	0.81[GIH][hapmap]
rs10888408	0.85[JPT][hapmap]
rs10888409	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs10888410	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs11204785	0.81[JPT][hapmap]
rs11204791	0.85[JPT][hapmap]
rs11204798	0.82[EUR][1000 genomes]
rs1536617	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1752385	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1780582	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1780587	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2025900	0.84[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2031797	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2275900	0.85[JPT][hapmap]
rs2769266	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2769267	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2769268	0.83[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2769269	0.88[EUR][1000 genomes]
rs2769273	0.84[CEU][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2800946	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2800947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2800949	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2800950	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2800951	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2800952	0.84[EUR][1000 genomes]
rs2800953	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3811405	0.90[JPT][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap]
rs3811406	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4246525	0.81[JPT][hapmap]
rs4636463	0.95[JPT][hapmap]
rs4970944	0.81[JPT][hapmap]
rs4970948	0.83[GIH][hapmap];0.85[JPT][hapmap]
rs4971013	0.80[JPT][hapmap]
rs4971018	0.90[MKK][hapmap]
rs4971023	0.81[JPT][hapmap]
rs4971027	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs4971028	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4971029	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4971030	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs5022636	0.83[GIH][hapmap]
rs6587559	0.81[JPT][hapmap]
rs6587562	0.85[JPT][hapmap]
rs6678528	0.90[JPT][hapmap]
rs6686402	0.81[JPT][hapmap]
rs744536	0.81[GIH][hapmap]
rs7527032	0.81[JPT][hapmap]
rs7532935	0.81[JPT][hapmap]
rs7539584	0.81[JPT][hapmap]
rs7544947	0.81[JPT][hapmap]
rs7545392	0.90[JPT][hapmap]
rs7552906	0.83[GIH][hapmap];0.86[JPT][hapmap]
rs943637	0.83[GIH][hapmap];0.85[JPT][hapmap]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151301000-151315000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151301200-151314800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151301200-151314800	Weak transcription	Gastric	stomach
4	chr1:151301200-151315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151301200-151315600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
7	chr1:151301400-151314800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:151301400-151314800	Weak transcription	Fetal Stomach	stomach
9	chr1:151301400-151316000	Weak transcription	Fetal Kidney	kidney
10	chr1:151306000-151315000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:151309200-151314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:151309200-151314600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:151309600-151314400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:151310200-151314400	Weak transcription	Fetal Brain Female	brain
15	chr1:151311200-151314600	Weak transcription	Spleen	Spleen
16	chr1:151311200-151314800	Weak transcription	Aorta	Aorta
17	chr1:151311400-151314400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:151311600-151314400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:151311600-151314800	Weak transcription	Colonic Mucosa	Colon
20	chr1:151311600-151314800	Weak transcription	Lung	lung
21	chr1:151311600-151314800	Weak transcription	Pancreas	Pancrea
22	chr1:151311600-151315000	Weak transcription	Placenta	Placenta
23	chr1:151311600-151315000	Weak transcription	Right Ventricle	heart
24	chr1:151312200-151314600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:151312200-151314800	Weak transcription	Left Ventricle	heart
26	chr1:151312200-151315000	Weak transcription	Esophagus	oesophagus
27	chr1:151312400-151314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:151312400-151315200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:151312600-151314800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:151313000-151314400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:151313000-151315200	Weak transcription	Ovary	ovary
32	chr1:151313200-151314400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:151313400-151314400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:151313400-151314400	Weak transcription	Brain Germinal Matrix	brain
35	chr1:151313400-151314400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:151313400-151314400	Weak transcription	Thymus	Thymus
37	chr1:151313400-151314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:151313400-151314600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:151313400-151314600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:151313400-151314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:151313400-151314800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:151313400-151314800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:151313400-151314800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:151313400-151314800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:151313400-151315000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:151313400-151315000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:151313400-151315000	Enhancers	Hela-S3	cervix
48	chr1:151313400-151315000	Weak transcription	NHLF	lung
49	chr1:151313400-151315200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:151313400-151315200	Weak transcription	Liver	Liver

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