Variant report

Variant	rs1885710
Chromosome Location	chr14:24647957-24647958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24645507-24654398	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24647792-24650002	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr14:24647725-24649629	K562	blood:	n/a	n/a
4	POLR2A	chr14:24645807-24649310	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:24643556-24655637	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24647449-24649206	GM18505	blood:	n/a	n/a
7	POLR2A	chr14:24647854-24648378	K562	blood:	n/a	n/a
8	POLR2A	chr14:24647791-24648317	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:24647569-24649108	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:24646558-24650190	K562	blood:	n/a	n/a
11	POLR2A	chr14:24647049-24648862	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:24645859-24652944	A549	lung:	n/a	n/a
13	POLR2A	chr14:24647477-24649005	K562	blood:	n/a	n/a
14	POLR2A	chr14:24646769-24649212	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:24647842-24648022	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:24645463-24653158	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:24647677-24649260	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:24645466-24654781	GM12892	blood:	n/a	n/a
19	POLR2A	chr14:24646526-24648233	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:24645909-24653058	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24646377-24653102	GM12891	blood:	n/a	n/a
22	POLR2A	chr14:24645572-24653154	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:24646495-24649291	GM12878	blood:	n/a	n/a
24	PML	chr14:24647927-24648353	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24647178-24649126	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:24645684-24649217	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24646046-24649203	HL-60	blood:	n/a	n/a
28	POLR2A	chr14:24647727-24649447	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:24646352-24649213	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr14:24646384-24650139	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:24645955-24649521	K562	blood:	n/a	n/a
32	POLR2A	chr14:24647653-24649246	GM12892	blood:	n/a	n/a
33	POLR2A	chr14:24647432-24648417	K562	blood:	n/a	n/a
34	POLR2A	chr14:24645535-24654723	GM12892	blood:	n/a	n/a
35	POLR2A	chr14:24646503-24649236	K562	blood:	n/a	n/a
36	POLR2A	chr14:24645580-24654794	GM12891	blood:	n/a	n/a
37	POLR2A	chr14:24643055-24653064	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24583410..24585426-chr14:24647277..24649187,2	MCF-7	breast:
2	chr14:24647886..24650156-chr14:24680115..24682418,2	MCF-7	breast:
3	chr14:24629039..24631896-chr14:24646822..24648474,2	K562	blood:
4	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
5	chr14:24647373..24649581-chr14:24682421..24684138,2	MCF-7	breast:
6	chr14:24603743..24605973-chr14:24646777..24648838,2	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
ENSG00000100918	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000129535	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11622031	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11622481	1.00[JPT][hapmap]
rs12588742	0.85[YRI][hapmap]
rs1885711	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2031101	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2234095	0.92[YRI][hapmap]
rs2295979	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3742504	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982862	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573607	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158286	0.86[AMR][1000 genomes];0.88[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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24637000-24648000	Weak transcription	HSMM	muscle
3	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
4	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
5	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:24641400-24648200	Weak transcription	Left Ventricle	heart
8	chr14:24641400-24656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:24641600-24648400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:24641600-24648600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:24641600-24656600	Strong transcription	Placenta	Placenta
12	chr14:24641600-24656800	Weak transcription	Right Atrium	heart
13	chr14:24641800-24648000	Weak transcription	NHDF-Ad	bronchial
14	chr14:24641800-24649600	Weak transcription	HUVEC	blood vessel
15	chr14:24641800-24653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:24641800-24656400	Strong transcription	Adipose Nuclei	Adipose
17	chr14:24642000-24648000	Weak transcription	Fetal Lung	lung
18	chr14:24642000-24648800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:24642000-24656200	Strong transcription	Lung	lung
20	chr14:24642200-24648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:24642200-24650200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:24642200-24654600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:24642200-24656000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:24642200-24656000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:24642400-24648000	Weak transcription	A549	lung
26	chr14:24642400-24648600	Weak transcription	Fetal Heart	heart
27	chr14:24642400-24656400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:24642600-24648600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:24642600-24653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:24642600-24655200	Strong transcription	Spleen	Spleen
31	chr14:24642600-24656200	Strong transcription	Fetal Stomach	stomach
32	chr14:24642800-24648200	Weak transcription	Pancreas	Pancrea
33	chr14:24642800-24648600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:24642800-24654600	Weak transcription	Fetal Kidney	kidney
35	chr14:24643000-24651600	Genic enhancers	Fetal Intestine Large	intestine
36	chr14:24643000-24652000	Genic enhancers	Fetal Intestine Small	intestine
37	chr14:24643000-24656400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:24643400-24656400	Strong transcription	Primary T cells from cord blood	blood
39	chr14:24643400-24656400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:24643400-24656800	Strong transcription	Brain Germinal Matrix	brain
41	chr14:24643800-24648800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:24643800-24656200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:24643800-24656200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:24643800-24656200	Strong transcription	Gastric	stomach
45	chr14:24643800-24656600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:24643800-24656600	Weak transcription	Fetal Brain Male	brain
47	chr14:24644000-24648400	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:24644000-24656200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:24644000-24656600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:24644000-24656800	Strong transcription	Thymus	Thymus

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