Variant report

Variant	rs463905
Chromosome Location	chr5:40828166-40828167
allele	C/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:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:
2	chr5:40795414..40800612-chr5:40826901..40832318,11	MCF-7	breast:
3	chr5:40797697..40800949-chr5:40824816..40830013,8	MCF-7	breast:
4	chr5:40741850..40745005-chr5:40826482..40830579,3	K562	blood:
5	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:
6	chr12:92538001..92540396-chr5:40827801..40830169,2	K562	blood:
7	chr5:40753095..40762740-chr5:40824814..40831828,21	K562	blood:
8	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
9	chr5:40754490..40756519-chr5:40826244..40828552,3	MCF-7	breast:
10	chr5:40761191..40762740-chr5:40826660..40829600,2	K562	blood:
11	chr5:40773952..40776932-chr5:40826531..40828937,3	MCF-7	breast:
12	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
13	chr1:28833016..28833901-chr5:40827972..40828886,2	Hela-S3	cervix:
14	chr5:40776154..40778816-chr5:40827762..40829741,2	K562	blood:
15	chr5:40789898..40792382-chr5:40827090..40829143,2	MCF-7	breast:
16	chr5:40802997..40805283-chr5:40828137..40831104,3	MCF-7	breast:
17	chr5:40765162..40773094-chr5:40824590..40832435,13	K562	blood:
18	chr5:40765278..40768665-chr5:40827361..40829681,3	K562	blood:
19	chr5:40826490..40828948-chr5:40858944..40860973,4	K562	blood:
20	chr20:45877763..45879321-chr5:40827692..40829763,2	MCF-7	breast:
21	chr5:40827337..40829138-chr5:40847106..40849320,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAA1-1	chr5:40825365-40829244	NONHSAT101154

No data

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000212567	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000245904	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1097604	0.81[ASN][1000 genomes]
rs1103634	0.89[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs152376	0.88[ASN][1000 genomes]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs154269	0.81[ASN][1000 genomes]
rs154270	0.88[ASN][1000 genomes]
rs154271	0.88[ASN][1000 genomes]
rs154272	1.00[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154277	0.81[ASN][1000 genomes]
rs154278	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154282	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154283	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1631661	0.88[ASN][1000 genomes]
rs1645509	1.00[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1697929	0.81[ASN][1000 genomes]
rs1697937	0.81[ASN][1000 genomes]
rs173618	0.88[ASN][1000 genomes]
rs173619	1.00[ASN][1000 genomes]
rs181819	0.94[ASN][1000 genomes]
rs181820	1.00[ASN][1000 genomes]
rs181821	1.00[ASN][1000 genomes]
rs183138	0.88[ASN][1000 genomes]
rs184436	0.81[ASN][1000 genomes]
rs185114	0.81[ASN][1000 genomes]
rs185115	0.81[ASN][1000 genomes]
rs185381	0.81[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2262009	0.81[ASN][1000 genomes]
rs249421	0.81[ASN][1000 genomes]
rs249424	0.81[ASN][1000 genomes]
rs249426	0.81[ASN][1000 genomes]
rs249427	0.81[ASN][1000 genomes]
rs249431	0.81[ASN][1000 genomes]
rs249432	0.88[ASN][1000 genomes]
rs249433	0.88[ASN][1000 genomes]
rs249434	0.88[ASN][1000 genomes]
rs249435	0.88[ASN][1000 genomes]
rs249439	1.00[ASN][1000 genomes]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs29741	0.81[ASN][1000 genomes]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs323560	0.81[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34236150	1.00[ASN][1000 genomes]
rs370346	1.00[ASN][1000 genomes]
rs380334	0.81[ASN][1000 genomes]
rs382916	0.81[ASN][1000 genomes]
rs396412	1.00[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs418494	0.81[ASN][1000 genomes]
rs424787	1.00[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs433730	0.81[ASN][1000 genomes]
rs438604	1.00[ASN][1000 genomes]
rs441016	1.00[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs455374	1.00[ASN][1000 genomes]
rs455519	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs456929	0.81[ASN][1000 genomes]
rs456995	0.81[ASN][1000 genomes]
rs457111	1.00[ASN][1000 genomes]
rs458884	1.00[ASN][1000 genomes]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs460752	1.00[ASN][1000 genomes]
rs461612	0.81[ASN][1000 genomes]
rs462430	0.87[ASN][1000 genomes]
rs463040	1.00[ASN][1000 genomes]
rs463675	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs464191	1.00[ASN][1000 genomes]
rs465196	0.87[ASN][1000 genomes]
rs465467	1.00[ASN][1000 genomes]
rs466960	0.88[ASN][1000 genomes]
rs467438	1.00[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs704032	0.88[ASN][1000 genomes]
rs704033	0.88[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs837100	0.81[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837105	0.81[ASN][1000 genomes]
rs837267	0.81[ASN][1000 genomes]
rs837279	0.88[ASN][1000 genomes]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs837381	0.81[ASN][1000 genomes]
rs837382	0.81[ASN][1000 genomes]
rs837384	0.81[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs837389	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
3	nsv518711	chr5:40827307-40835627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	137 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40821400-40828800	Weak transcription	Gastric	stomach
2	chr5:40823600-40833200	Strong transcription	Thymus	Thymus
3	chr5:40824200-40830000	Weak transcription	Aorta	Aorta
4	chr5:40824200-40833000	Weak transcription	Fetal Heart	heart
5	chr5:40824200-40833000	Weak transcription	Psoas Muscle	Psoas
6	chr5:40824400-40828800	Strong transcription	A549	lung
7	chr5:40824800-40833000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:40824800-40833200	Strong transcription	Fetal Thymus	thymus
9	chr5:40824800-40833600	Strong transcription	Brain Germinal Matrix	brain
10	chr5:40825000-40832600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:40825000-40832800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:40825200-40830000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:40825200-40831400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:40825200-40832200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:40825200-40832200	Strong transcription	Liver	Liver
16	chr5:40825200-40832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:40825200-40833200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:40825200-40833400	Strong transcription	Brain Anterior Caudate	brain
19	chr5:40825400-40830400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:40825400-40830800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:40825400-40831400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:40825400-40831800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:40825400-40832000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:40825400-40833800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:40825600-40831200	Strong transcription	NHLF	lung
26	chr5:40825600-40831600	Strong transcription	HMEC	breast
27	chr5:40825600-40831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:40825600-40831800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:40825600-40831800	Strong transcription	NH-A	brain
30	chr5:40825600-40832000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:40825600-40832000	Strong transcription	Osteobl	bone
32	chr5:40825600-40832200	Strong transcription	HSMM	muscle
33	chr5:40825600-40832600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:40825600-40832600	Strong transcription	Fetal Stomach	stomach
35	chr5:40825600-40832600	Strong transcription	Spleen	Spleen
36	chr5:40825600-40832800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:40825600-40833000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr5:40825600-40833200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:40825600-40833200	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:40825600-40833200	Strong transcription	Left Ventricle	heart
41	chr5:40825600-40833400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:40825600-40833400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:40825800-40828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:40825800-40830000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:40825800-40831800	Strong transcription	Fetal Intestine Small	intestine
46	chr5:40825800-40833200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr5:40826000-40828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:40826000-40829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:40826000-40830000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:40826000-40830000	Strong transcription	HUVEC	blood vessel

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