Variant report

Variant	rs2471282
Chromosome Location	chr7:139975028-139975029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139876776..139878486-chr7:139973785..139976029,2	K562	blood:
2	chr7:139876001..139878497-chr7:139973324..139976029,5	K562	blood:

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2003523	1.00[ASN][1000 genomes]
rs2003524	0.80[ASN][1000 genomes]
rs2429202	1.00[ASN][1000 genomes]
rs2429204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429225	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2429226	1.00[ASN][1000 genomes]
rs2429228	1.00[ASN][1000 genomes]
rs2429229	0.94[ASN][1000 genomes]
rs2471283	1.00[ASN][1000 genomes]
rs2471285	1.00[ASN][1000 genomes]
rs2471286	1.00[ASN][1000 genomes]
rs2471287	1.00[ASN][1000 genomes]
rs2471288	1.00[ASN][1000 genomes]
rs2471289	1.00[ASN][1000 genomes]
rs2471290	1.00[ASN][1000 genomes]
rs2471291	1.00[ASN][1000 genomes]
rs2471292	1.00[ASN][1000 genomes]
rs2471293	1.00[ASN][1000 genomes]
rs2471294	1.00[ASN][1000 genomes]
rs2471295	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs2471296	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2471297	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2471298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2471303	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471305	1.00[CHB][hapmap]
rs4726761	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap]
rs6947292	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2761371	chr7:139964350-139979655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv520097	chr7:139969051-139979843	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv519667	chr7:139969051-139992387	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2471282	CLEC2L	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139960400-139975200	Weak transcription	Right Atrium	heart
2	chr7:139974800-139975200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:139974800-139975600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:139974800-139976000	Flanking Active TSS	K562	blood
5	chr7:139974800-139976200	Enhancers	Fetal Heart	heart
6	chr7:139974800-139977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:139975000-139975200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:139975000-139975200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:139975000-139975200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:139975000-139975200	Enhancers	HepG2	liver
11	chr7:139975000-139975200	Bivalent/Poised TSS	HUVEC	blood vessel
12	chr7:139975000-139975400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:139975000-139975400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:139975000-139975400	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:139975000-139975400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:139975000-139975600	Enhancers	Fetal Intestine Small	intestine
17	chr7:139975000-139975600	Active TSS	Ovary	ovary
18	chr7:139975000-139975600	Active TSS	Right Ventricle	heart
19	chr7:139975000-139975800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:139975000-139975800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:139975000-139975800	Enhancers	Brain Angular Gyrus	brain
22	chr7:139975000-139975800	Enhancers	Brain Hippocampus Middle	brain
23	chr7:139975000-139976000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:139975000-139976000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:139975000-139976200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:139975000-139976600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:139975000-139976600	Enhancers	Fetal Muscle Leg	muscle

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