Variant report

Variant	rs1509578
Chromosome Location	chr2:30367224-30367225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:30367172-30367467	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30361415..30365100-chr2:30365958..30368991,4	K562	blood:
2	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233862	TF binding region
YPEL5	TF binding region
ENSG00000119801	Chromatin interaction
ENSG00000233862	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1868072	1.00[JPT][hapmap]
rs1868073	0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2084336	1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs2361745	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361746	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886897	0.87[EUR][1000 genomes]
rs4332963	0.87[EUR][1000 genomes]
rs4952097	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952099	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547992	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547997	0.89[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs6737446	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6741070	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558409	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564198	1.00[JPT][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30358000-30368600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:30362400-30367600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:30362400-30367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:30362400-30367600	Weak transcription	Fetal Thymus	thymus
5	chr2:30362400-30367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:30362400-30368600	Weak transcription	Thymus	Thymus
7	chr2:30362600-30367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:30362600-30367600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:30362600-30367800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:30362800-30367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:30362800-30367800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:30362800-30368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:30362800-30368600	Weak transcription	GM12878-XiMat	blood
14	chr2:30362800-30368600	Weak transcription	HMEC	breast
15	chr2:30363000-30368400	Weak transcription	NHEK	skin
16	chr2:30363000-30368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:30363200-30368600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:30363200-30368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:30366200-30368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30366400-30368600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:30366600-30367800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:30366600-30368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:30367000-30368600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:30367200-30368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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