Variant report

Variant	rs1355089
Chromosome Location	chr5:41856973-41856974
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41856094..41857973-chr5:42056939..42058102,22	K562	blood:
2	chr5:41856448..41857171-chr5:41924882..41925756,3	K562	blood:
3	chr5:41851290..41853624-chr5:41855397..41858252,2	K562	blood:
4	chr5:41856847..41857569-chr5:42057071..42057972,2	MCF-7	breast:
5	chr5:41856747..41857414-chr5:42767289..42768219,3	MCF-7	breast:
6	chr5:41856596..41862503-chr5:41900632..41904623,6	K562	blood:
7	chr5:41856543..41857437-chr5:41925286..41926219,3	MCF-7	breast:
8	chr5:41856393..41857351-chr5:42005402..42006192,2	MCF-7	breast:
9	chr5:41856471..41857410-chr5:42656558..42657380,2	MCF-7	breast:
10	chr5:41856921..41859678-chr5:41902862..41906383,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10051322	0.93[ASN][1000 genomes]
rs10059424	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10069638	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1006996	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10070201	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1035486	1.00[AMR][1000 genomes]
rs10472357	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10941557	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11738517	0.80[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11740524	1.00[ASN][1000 genomes]
rs11740946	0.86[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11744516	0.87[ASN][1000 genomes]
rs11744623	1.00[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1175227	0.93[ASN][1000 genomes]
rs13163137	0.86[ASN][1000 genomes]
rs13357951	0.93[ASN][1000 genomes]
rs13360001	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1494392	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1508816	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1533014	1.00[ASN][1000 genomes]
rs1582539	1.00[AMR][1000 genomes]
rs16871741	1.00[AMR][1000 genomes]
rs16871793	1.00[AMR][1000 genomes]
rs16871799	1.00[AMR][1000 genomes]
rs16871844	1.00[AMR][1000 genomes]
rs16871938	1.00[AMR][1000 genomes]
rs16871940	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16871972	1.00[ASN][1000 genomes]
rs17739462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17847285	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1833818	0.94[AMR][1000 genomes]
rs1876654	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2113053	0.93[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2231917	0.93[ASN][1000 genomes]
rs2329815	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs277406	0.93[ASN][1000 genomes]
rs277407	0.93[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs277416	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs316760	0.86[ASN][1000 genomes]
rs33967331	0.86[ASN][1000 genomes]
rs34339137	1.00[ASN][1000 genomes]
rs34663371	1.00[ASN][1000 genomes]
rs35077044	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35154057	1.00[ASN][1000 genomes]
rs35252930	0.87[ASN][1000 genomes]
rs35613904	1.00[ASN][1000 genomes]
rs3863161	0.82[AMR][1000 genomes]
rs3863162	0.82[AMR][1000 genomes]
rs3863163	0.82[AMR][1000 genomes]
rs4050986	1.00[ASN][1000 genomes]
rs4245982	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4289604	0.93[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4957160	0.97[AMR][1000 genomes]
rs4957161	1.00[AMR][1000 genomes]
rs4957170	1.00[AMR][1000 genomes]
rs4957171	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957172	1.00[AMR][1000 genomes]
rs4957173	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957176	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957177	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957178	0.93[ASN][1000 genomes]
rs4957180	0.93[ASN][1000 genomes]
rs4957403	1.00[AMR][1000 genomes]
rs4957404	1.00[AMR][1000 genomes]
rs4957407	1.00[AMR][1000 genomes]
rs4957409	1.00[AMR][1000 genomes]
rs4957418	1.00[AMR][1000 genomes]
rs4957419	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957421	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4957422	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957423	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957424	1.00[ASN][1000 genomes]
rs4957425	1.00[AMR][1000 genomes]
rs4957428	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957429	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957430	1.00[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957433	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957434	1.00[JPT][hapmap]
rs4957435	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957438	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4957439	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs6451581	0.86[ASN][1000 genomes]
rs6451582	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs66820325	1.00[ASN][1000 genomes]
rs67114999	1.00[ASN][1000 genomes]
rs676067	0.93[ASN][1000 genomes]
rs6869822	0.91[AMR][1000 genomes]
rs6881873	1.00[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746983	0.93[ASN][1000 genomes]
rs72746996	0.93[ASN][1000 genomes]
rs7712911	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7728482	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7729014	1.00[ASN][1000 genomes]
rs7733096	1.00[ASN][1000 genomes]
rs9292825	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
2	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:41836000-41857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:41836600-41863800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:41837200-41858600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:41841800-41869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:41849000-41857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:41849000-41857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:41849000-41857200	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:41849000-41857200	Strong transcription	K562	blood
11	chr5:41849000-41857800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:41849000-41862200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:41849000-41862600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:41849000-41862800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:41849000-41862800	Strong transcription	Fetal Thymus	thymus
16	chr5:41849200-41857000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:41849200-41859200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:41849200-41862000	Strong transcription	Dnd41	blood
19	chr5:41849200-41862400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:41849200-41862800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:41849200-41863600	Strong transcription	Hela-S3	cervix
22	chr5:41849800-41864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:41849800-41869000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:41850400-41857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:41850400-41864200	Weak transcription	Brain Angular Gyrus	brain
26	chr5:41850400-41868800	Weak transcription	Fetal Brain Male	brain
27	chr5:41850400-41869000	Weak transcription	Esophagus	oesophagus
28	chr5:41850400-41869000	Weak transcription	Fetal Heart	heart
29	chr5:41850400-41869000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:41851000-41859000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:41851000-41869400	Weak transcription	Psoas Muscle	Psoas
32	chr5:41851200-41869000	Weak transcription	Stomach Mucosa	stomach
33	chr5:41851800-41857000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:41852200-41869000	Weak transcription	Brain Germinal Matrix	brain
35	chr5:41852200-41869000	Weak transcription	Gastric	stomach
36	chr5:41852200-41869000	Weak transcription	Right Ventricle	heart
37	chr5:41852200-41869200	Weak transcription	Brain Substantia Nigra	brain
38	chr5:41852400-41869000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:41852400-41869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:41852800-41861400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:41852800-41864000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:41852800-41868800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:41852800-41868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:41853000-41859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:41853000-41860200	Weak transcription	Fetal Lung	lung
46	chr5:41853000-41860800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:41853000-41861400	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:41853000-41869000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:41853000-41869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:41853000-41869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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