Variant report

Variant	rs2241516
Chromosome Location	chr15:43530647-43530648
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43529509..43532294-chr15:43567272..43569682,2	K562	blood:
2	chr15:43530073..43532270-chr15:43533216..43535267,2	K562	blood:
3	chr15:43528880..43530995-chr15:43543131..43545896,2	K562	blood:

Variant related genes	Relation type
ENSG00000104055	Chromatin interaction
ENSG00000159495	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11070391	0.90[CEU][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs11070396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070397	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11070398	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11855754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899266	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1462856	0.89[CEU][hapmap]
rs16957511	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834643	0.92[EUR][1000 genomes]
rs2042742	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412752	0.82[JPT][hapmap]
rs28585036	0.86[CEU][hapmap]
rs28756768	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899077	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2947019	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes]
rs34646108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784267	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924704	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4924709	0.90[ASN][1000 genomes]
rs494863	1.00[CEU][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs495286	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs497138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs499280	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs530305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs531850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs538218	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs540587	0.89[CEU][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6493078	0.86[ASN][1000 genomes]
rs7174915	0.90[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs7183814	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8027371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2241516	CCNDBP1	cis	Lymphoblastoid	GTEx
rs2241516	CCNDBP1	cis	multi-tissue	Pritchard
rs2241516	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43523600-43530800	Weak transcription	K562	blood
2	chr15:43528000-43531600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:43530000-43530800	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:43530000-43531400	Enhancers	Psoas Muscle	Psoas
5	chr15:43530000-43532000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:43530000-43532400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:43530200-43531000	Enhancers	HepG2	liver
8	chr15:43530200-43531200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:43530200-43531200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:43530200-43531200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:43530200-43531600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:43530200-43531600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:43530200-43531600	Enhancers	Adipose Nuclei	Adipose
14	chr15:43530200-43532000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43530200-43532000	Enhancers	HMEC	breast
16	chr15:43530200-43532200	Enhancers	Fetal Muscle Leg	muscle
17	chr15:43530200-43532800	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:43530200-43533600	Enhancers	GM12878-XiMat	blood
19	chr15:43530400-43531200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:43530400-43531200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:43530400-43531400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:43530400-43531600	Enhancers	Esophagus	oesophagus
23	chr15:43530400-43532600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:43530600-43530800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr15:43530600-43531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:43530600-43531600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr15:43530600-43531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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