Variant report

Variant	rs10206245
Chromosome Location	chr2:72765462-72765463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72764874..72768027-chr2:72770033..72773570,4	K562	blood:
2	chr2:72764874..72768048-chr2:72769489..72772666,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10084347	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10165868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176180	0.88[AFR][1000 genomes]
rs10179254	1.00[MEX][hapmap]
rs10181491	0.84[AFR][1000 genomes]
rs10188321	0.84[AFR][1000 genomes]
rs10188854	0.88[AFR][1000 genomes]
rs10191381	1.00[YRI][hapmap]
rs13385811	1.00[MEX][hapmap]
rs13391821	1.00[MEX][hapmap]
rs13393356	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs13397728	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs13397743	1.00[MEX][hapmap]
rs13411428	0.84[YRI][hapmap]
rs13414789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415635	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419598	1.00[MEX][hapmap]
rs13426691	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs13431249	0.84[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs28860196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590345	0.92[YRI][hapmap]
rs6715775	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729155	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749568	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653555	0.80[AFR][1000 genomes]

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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10206245	IL1R2	trans	lymphoblastoid	seeQTL
rs10206245	PRRX1	trans	lymphoblastoid	seeQTL
rs10206245	DSC3	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72759600-72765600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:72760400-72769800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:72760800-72765600	Weak transcription	HSMM	muscle
4	chr2:72760800-72766000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:72760800-72766000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:72760800-72766000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:72761200-72766000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72761200-72766000	Weak transcription	Osteobl	bone
9	chr2:72761400-72765600	Weak transcription	NH-A	brain
10	chr2:72761400-72765800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:72761400-72766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:72761400-72766200	Weak transcription	NHEK	skin
13	chr2:72761400-72783000	Weak transcription	Aorta	Aorta
14	chr2:72762200-72765600	Weak transcription	K562	blood
15	chr2:72762200-72766000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:72762400-72766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:72762400-72766000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:72762400-72766200	Weak transcription	HUVEC	blood vessel
19	chr2:72762600-72765800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:72762600-72765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:72762600-72765800	Weak transcription	A549	lung
22	chr2:72762600-72766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:72762600-72770200	Weak transcription	Fetal Heart	heart
24	chr2:72764000-72766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:72764400-72765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:72765200-72766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:72765200-72766600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:72765200-72766600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:72765200-72766800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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