Variant report

Variant	rs4987294
Chromosome Location	chr1:169676755-169676756
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	chr1:169674141..169677050-chr1:169763005..169764633,2	MCF-7	breast:
2	chr1:169669179..169671320-chr1:169675894..169677671,2	K562	blood:

Variant related genes	Relation type
ENSG00000171806	Chromatin interaction
ENSG00000000460	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

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	0.83[AFR][1000 genomes]
rs12133074	0.83[AFR][1000 genomes]
rs12135361	0.83[AFR][1000 genomes]
rs12135559	0.83[AFR][1000 genomes]
rs12135642	0.83[AFR][1000 genomes]
rs12136425	0.83[AFR][1000 genomes]
rs12138861	0.83[AFR][1000 genomes]
rs12140656	0.83[AFR][1000 genomes]
rs12141317	0.83[AFR][1000 genomes]
rs12141572	0.83[AFR][1000 genomes]
rs12142093	0.83[AFR][1000 genomes]
rs12143057	0.83[AFR][1000 genomes]
rs12143161	0.83[AFR][1000 genomes]
rs12144204	0.83[AFR][1000 genomes]
rs12145417	0.83[AFR][1000 genomes]
rs12145458	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	0.83[AFR][1000 genomes]
rs17543611	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	0.83[AFR][1000 genomes]
rs2272920	0.83[AFR][1000 genomes]
rs3766135	0.83[AFR][1000 genomes]
rs3766141	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]
rs4987295	1.00[AFR][1000 genomes]
rs4987365	1.00[AFR][1000 genomes]
rs4987383	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:4 , 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	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169667600-169676800	Genic enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:169668000-169677400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
3	chr1:169670600-169678000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr1:169671200-169679400	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:169672600-169677400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr1:169672600-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:169673200-169676800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
8	chr1:169673200-169678400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
9	chr1:169674400-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
10	chr1:169675400-169677400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
11	chr1:169675400-169677400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:169675600-169678200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:169675800-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:169676000-169677000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:169676000-169677200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:169676000-169677200	Enhancers	Thymus	Thymus
17	chr1:169676000-169677800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:169676000-169679400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
19	chr1:169676200-169676800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:169676200-169677200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:169676200-169678000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:169676600-169676800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:169676600-169676800	Active TSS	GM12878-XiMat	blood
25	chr1:169676600-169677200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:169676600-169677200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:169676600-169677200	Weak transcription	Fetal Thymus	thymus
28	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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