Variant report

Variant	rs4987365
Chromosome Location	chr1:169663389-169663390
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169570098..169571225-chr1:169663167..169664353,5	MCF-7	breast:
2	chr1:169519013..169520404-chr1:169662765..169663989,4	MCF-7	breast:
3	chr1:169663115..169663861-chr1:169679931..169680901,2	MCF-7	breast:
4	chr1:169658516..169660936-chr1:169662078..169664299,2	K562	blood:

Variant related genes	Relation type
ENSG00000188404	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]
rs4987294	1.00[AFR][1000 genomes]
rs4987295	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	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
4	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169658400-169666200	Enhancers	Thymus	Thymus
3	chr1:169660600-169663600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:169660600-169664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:169660800-169664200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr1:169660800-169665200	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:169661200-169664000	Enhancers	Fetal Thymus	thymus
8	chr1:169661200-169665400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:169661600-169663600	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:169661600-169664000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:169661800-169663800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:169662000-169663400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:169662000-169664200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:169662000-169665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:169662000-169667400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:169662400-169663400	Flanking Active TSS	Dnd41	blood
17	chr1:169662400-169663800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:169662400-169664000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr1:169662400-169664000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:169662400-169676000	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr1:169662800-169664000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:169662800-169664200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
23	chr1:169662800-169664800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:169663000-169663800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:169663000-169663800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:169663200-169663800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:169663200-169663800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:169663200-169664400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:169663200-169664400	Enhancers	Brain Hippocampus Middle	brain
30	chr1:169663200-169664800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:169663200-169669000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:169663200-169674000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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