Variant report

Variant	rs10924822
Chromosome Location	chr1:246931650-246931651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:246931540-246931744	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:246931499-246931834	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246929352..246931655-chr1:246940972..246943621,2	K562	blood:

Variant related genes	Relation type
ENSG00000260855	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10732299	1.00[AMR][1000 genomes]
rs12040914	1.00[AMR][1000 genomes]
rs12069175	1.00[AMR][1000 genomes]
rs12071299	1.00[AMR][1000 genomes]
rs1691257	1.00[AMR][1000 genomes]
rs1779973	1.00[AMR][1000 genomes]
rs1779976	1.00[AMR][1000 genomes]
rs2800223	1.00[AMR][1000 genomes]
rs2996552	1.00[AMR][1000 genomes]
rs3007320	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3007321	1.00[AMR][1000 genomes]
rs3007325	1.00[AMR][1000 genomes]
rs3007326	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3007327	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3122533	1.00[AMR][1000 genomes]
rs4244625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244626	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244631	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4511163	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4532864	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926452	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926463	1.00[AMR][1000 genomes]
rs6426335	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663093	1.00[AMR][1000 genomes]
rs6696798	1.00[AMR][1000 genomes]
rs7416659	1.00[AMR][1000 genomes]
rs923972	1.00[AMR][1000 genomes]
rs9426266	1.00[AMR][1000 genomes]
rs9426274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246895000-246942200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246895400-246938600	Weak transcription	Fetal Heart	heart
5	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:246904600-246942800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
8	chr1:246912600-246932200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:246912800-246933200	Weak transcription	K562	blood
10	chr1:246917600-246936000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:246920800-246944200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:246921000-246931800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:246921200-246943200	Strong transcription	Dnd41	blood
14	chr1:246921600-246945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:246922000-246932000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:246922000-246936400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:246922200-246932200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:246922200-246932800	Strong transcription	HepG2	liver
19	chr1:246922200-246933000	Strong transcription	Fetal Intestine Large	intestine
20	chr1:246922200-246934400	Strong transcription	Placenta	Placenta
21	chr1:246922200-246936000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:246922200-246936000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:246922200-246936200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:246922200-246937000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:246922200-246944600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:246922400-246932200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:246922600-246936400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:246922800-246932000	Strong transcription	Osteobl	bone
29	chr1:246923000-246932200	Strong transcription	Adipose Nuclei	Adipose
30	chr1:246923000-246933000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:246923000-246936200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr1:246923200-246945000	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:246923400-246932600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:246923600-246933200	Strong transcription	Brain Hippocampus Middle	brain
35	chr1:246924000-246941200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:246924000-246944200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:246924400-246934600	Weak transcription	Fetal Brain Male	brain
38	chr1:246924400-246939200	Weak transcription	Colonic Mucosa	Colon
39	chr1:246924400-246945800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:246925400-246932000	Weak transcription	Gastric	stomach
42	chr1:246925400-246936600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:246926400-246931800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:246926400-246939200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:246926800-246932000	Weak transcription	Esophagus	oesophagus
46	chr1:246927200-246931800	Strong transcription	NHDF-Ad	bronchial
47	chr1:246927600-246932400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:246928200-246933600	Weak transcription	Fetal Kidney	kidney
49	chr1:246928200-246934600	Weak transcription	A549	lung
50	chr1:246928400-246932600	Strong transcription	Left Ventricle	heart

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