Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:
2	chr1:169575727..169578687-chr1:169579163..169582225,3	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10919204	0.80[ASN][1000 genomes]
rs10919207	0.80[ASN][1000 genomes]
rs10919219	0.80[ASN][1000 genomes]
rs11487513	0.80[ASN][1000 genomes]
rs12067152	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12076747	0.80[ASN][1000 genomes]
rs12081319	0.80[ASN][1000 genomes]
rs12087424	0.80[ASN][1000 genomes]
rs12123695	0.80[ASN][1000 genomes]
rs12131631	0.80[ASN][1000 genomes]
rs1569476	0.81[ASN][1000 genomes]
rs1800805	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1800808	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2235303	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235304	0.82[ASN][1000 genomes]
rs2235305	0.84[ASN][1000 genomes]
rs2236868	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28409897	0.80[ASN][1000 genomes]
rs3917655	0.86[ASN][1000 genomes]
rs3917657	0.87[ASN][1000 genomes]
rs3917675	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs3917681	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3917682	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3917702	0.84[ASN][1000 genomes]
rs3917709	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3917729	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs58647626	0.80[ASN][1000 genomes]
rs60035985	0.80[ASN][1000 genomes]
rs6131	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs66920835	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv517483	chr1:169576568-169581258	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Soluble levels of adhesion molecules	20167578	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:169574800-169583000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:169575200-169580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:169576400-169580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:169576600-169585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:169578800-169584200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:169579000-169580400	Enhancers	HUVEC	blood vessel
9	chr1:169579400-169581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:169579600-169582000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:169579800-169587600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:169580200-169581000	Enhancers	Adipose Nuclei	Adipose
13	chr1:169580200-169581000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:169580200-169584200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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