Variant report

Variant	rs4987383
Chromosome Location	chr1:169660359-169660360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169658516..169660936-chr1:169662078..169664299,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489176	0.83[AFR][1000 genomes]
rs10919253	0.83[AFR][1000 genomes]
rs12118431	0.83[AFR][1000 genomes]
rs12118559	0.83[AFR][1000 genomes]
rs12119386	0.83[AFR][1000 genomes]
rs12119473	0.83[AFR][1000 genomes]
rs12119635	0.83[AFR][1000 genomes]
rs12120727	0.83[AFR][1000 genomes]
rs12121113	0.83[AFR][1000 genomes]
rs12122767	0.83[AFR][1000 genomes]
rs12126591	0.83[AFR][1000 genomes]
rs12128929	0.83[AFR][1000 genomes]
rs12132384	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs12133074	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs12135361	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs12135559	0.83[AFR][1000 genomes]
rs12135642	0.83[AFR][1000 genomes]
rs12136425	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs12138861	0.83[AFR][1000 genomes]
rs12140656	0.83[AFR][1000 genomes]
rs12141572	0.83[AFR][1000 genomes]
rs12142093	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs12143057	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs12143161	0.83[AFR][1000 genomes]
rs12144204	0.83[AFR][1000 genomes]
rs12145417	0.83[AFR][1000 genomes]
rs12145574	0.83[AFR][1000 genomes]
rs1496	0.83[AFR][1000 genomes]
rs16828207	1.00[AFR][1000 genomes]
rs17529791	0.83[AFR][1000 genomes]
rs17543370	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs17543611	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs17543730	0.83[AFR][1000 genomes]
rs17601414	0.83[AFR][1000 genomes]
rs17601582	0.83[AFR][1000 genomes]
rs17602051	0.83[AFR][1000 genomes]
rs17602701	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs2272920	1.00[ASW][hapmap];0.83[AFR][1000 genomes]
rs3766135	0.83[AFR][1000 genomes]
rs3766141	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[AFR][1000 genomes]
rs3766143	0.83[AFR][1000 genomes]
rs3917399	1.00[AFR][1000 genomes]
rs3917431	1.00[AFR][1000 genomes]
rs3917450	1.00[AFR][1000 genomes]
rs41272481	0.83[AFR][1000 genomes]
rs4987289	1.00[AFR][1000 genomes]
rs4987294	1.00[AFR][1000 genomes]
rs4987295	1.00[AFR][1000 genomes]
rs4987365	1.00[AFR][1000 genomes]
rs55686910	1.00[AFR][1000 genomes]
rs9645328	0.83[AFR][1000 genomes]
rs9645329	0.83[AFR][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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv872539	chr1:169658586-169674590	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169656800-169662600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:169657000-169661800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:169657800-169660600	Enhancers	Fetal Thymus	thymus
5	chr1:169658200-169660600	Enhancers	GM12878-XiMat	blood
6	chr1:169658400-169666200	Enhancers	Thymus	Thymus
7	chr1:169658600-169661000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:169658800-169660400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:169659000-169661600	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr1:169659200-169660400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr1:169659200-169660600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:169659200-169660800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:169659200-169661000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr1:169659200-169661000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
15	chr1:169659200-169661200	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr1:169659200-169661400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:169659400-169660800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:169659400-169660800	Genic enhancers	Dnd41	blood
19	chr1:169659400-169661200	Genic enhancers	Primary B cells from cord blood	blood
20	chr1:169659400-169661200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:169659600-169660600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:169659600-169660800	Genic enhancers	Primary T cells from cord blood	blood
23	chr1:169659600-169661800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:169659800-169660800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:169660000-169660600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:169660000-169660800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr1:169660000-169661200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr1:169660000-169661400	Genic enhancers	Primary hematopoietic stem cells	blood
29	chr1:169660200-169660400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr1:169660200-169660400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:169660200-169660400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:169660200-169660400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:169660200-169660400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:169660200-169660600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:169660200-169660800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr1:169660200-169660800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:169660200-169660800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:169660200-169660800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:169660200-169661600	Genic enhancers	Monocytes-CD14+_RO01746	blood

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