Variant report

Variant	rs1779976
Chromosome Location	chr1:247051441-247051442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247051414..247053728-chr1:247080520..247082221,2	K562	blood:
2	chr1:247049317..247052263-chr1:247093673..247095503,2	K562	blood:
3	chr1:247017312..247021045-chr1:247051011..247055284,3	K562	blood:
4	chr1:247041147..247045524-chr1:247051435..247055344,4	K562	blood:

Variant related genes	Relation type
ENSG00000153207	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10732299	1.00[AMR][1000 genomes]
rs10924822	1.00[AMR][1000 genomes]
rs12040914	1.00[AMR][1000 genomes]
rs1691257	1.00[AMR][1000 genomes]
rs1779973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2800223	1.00[AMR][1000 genomes]
rs2996551	1.00[YRI][hapmap]
rs2996552	1.00[AMR][1000 genomes]
rs3007320	1.00[AMR][1000 genomes]
rs3007321	1.00[AMR][1000 genomes]
rs3007325	1.00[AMR][1000 genomes]
rs3007326	1.00[AMR][1000 genomes]
rs3007327	1.00[AMR][1000 genomes]
rs3122533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244625	1.00[AMR][1000 genomes]
rs4244626	1.00[AMR][1000 genomes]
rs4244629	1.00[AMR][1000 genomes]
rs4511163	1.00[AMR][1000 genomes]
rs4532864	1.00[AMR][1000 genomes]
rs4926452	1.00[AMR][1000 genomes]
rs4926463	1.00[AMR][1000 genomes]
rs6426335	1.00[AMR][1000 genomes]
rs6663093	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:10 , 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	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
3	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
4	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
5	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
6	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
10	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
6	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
8	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:247024200-247052000	Weak transcription	Pancreas	Pancrea
10	chr1:247025200-247052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:247031600-247071400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:247032800-247051600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:247033200-247060800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:247033600-247058000	Weak transcription	Colonic Mucosa	Colon
15	chr1:247033800-247051600	Weak transcription	HSMMtube	muscle
16	chr1:247033800-247070800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:247035000-247051600	Weak transcription	Psoas Muscle	Psoas
18	chr1:247035800-247051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:247036200-247052000	Weak transcription	Small Intestine	intestine
20	chr1:247037200-247051800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:247037400-247052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:247039000-247051600	Weak transcription	Spleen	Spleen
23	chr1:247039000-247057200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:247039000-247070400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:247039200-247051600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:247039200-247051600	Weak transcription	Lung	lung
27	chr1:247039200-247052000	Weak transcription	Fetal Brain Male	brain
28	chr1:247039200-247052000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:247039400-247052000	Weak transcription	Esophagus	oesophagus
30	chr1:247040400-247051600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:247040400-247051600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:247040400-247065000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:247040600-247051600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:247040600-247052200	Weak transcription	Brain Substantia Nigra	brain
35	chr1:247041200-247051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:247043200-247051600	Weak transcription	Gastric	stomach
37	chr1:247043200-247051600	Weak transcription	Thymus	Thymus
38	chr1:247043200-247052000	Weak transcription	Aorta	Aorta
39	chr1:247043200-247057200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:247043800-247082000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:247044800-247070200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:247045400-247082600	Strong transcription	Dnd41	blood
43	chr1:247045600-247070800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:247045600-247071000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:247045600-247071000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:247045800-247053200	Strong transcription	Primary T cells from cord blood	blood
47	chr1:247045800-247070600	Strong transcription	Liver	Liver
48	chr1:247045800-247070800	Strong transcription	Osteobl	bone
49	chr1:247045800-247071000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:247045800-247071000	Strong transcription	K562	blood

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