Variant report

Variant	rs1726
Chromosome Location	chr1:160578004-160578005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160524454..160527285-chr1:160577181..160579481,2	K562	blood:
2	chr1:160312315..160314357-chr1:160577334..160579033,2	MCF-7	breast:
3	chr1:160577461..160579543-chr1:160581700..160584306,2	K562	blood:

Variant related genes	Relation type
ENSG00000122218	Chromatin interaction
ENSG00000162736	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1055880	0.82[EUR][1000 genomes]
rs11590035	0.82[EUR][1000 genomes]
rs1394078	0.83[EUR][1000 genomes]
rs17385878	0.90[EUR][1000 genomes]
rs2083128	0.87[EUR][1000 genomes]
rs3733266	0.82[EUR][1000 genomes]
rs3755898	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3766384	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3766387	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3766389	0.82[EUR][1000 genomes]
rs5002947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040770	0.82[EUR][1000 genomes]
rs61801562	0.88[EUR][1000 genomes]
rs61801564	0.81[EUR][1000 genomes]
rs61801565	0.82[EUR][1000 genomes]
rs61801567	0.84[EUR][1000 genomes]
rs6662093	0.85[EUR][1000 genomes]
rs6670721	0.82[EUR][1000 genomes]
rs6687641	0.87[EUR][1000 genomes]
rs7547054	0.86[EUR][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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1726	CD84	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160574000-160578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:160575600-160584000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:160576000-160579000	Enhancers	Liver	Liver
4	chr1:160576000-160580200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
6	chr1:160576400-160584800	Genic enhancers	Fetal Thymus	thymus
7	chr1:160576800-160591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:160577000-160580200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:160577000-160580400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:160577000-160580800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:160577000-160581000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:160577000-160584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:160577000-160590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:160577200-160579200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:160577200-160584400	Genic enhancers	Thymus	Thymus
16	chr1:160577400-160578800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:160577400-160579000	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr1:160577400-160584200	Strong transcription	Primary T cells from cord blood	blood
19	chr1:160577600-160578200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:160577600-160578400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:160577600-160579000	Genic enhancers	GM12878-XiMat	blood
22	chr1:160577600-160579600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:160577600-160580200	Weak transcription	Dnd41	blood
24	chr1:160577600-160580200	Weak transcription	K562	blood
25	chr1:160577600-160580600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:160577600-160584400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:160577800-160578800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:160577800-160579000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:160577800-160580000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:160577800-160583200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:160578000-160580200	Weak transcription	Primary B cells from cord blood	blood
32	chr1:160578000-160587400	Strong transcription	Primary B cells from peripheral blood	blood

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