Variant report

Variant	rs2172250
Chromosome Location	chr3:151154666-151154667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:151154113..151155918-chr3:151159230..151162074,2	K562	blood:
2	chr3:151148352..151150918-chr3:151152937..151154700,2	K562	blood:
3	chr3:151154108..151155613-chr3:151160574..151163493,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RY12-1	chr3:151154587-151154710	NONHSAT092723

Variant related genes	Relation type
ENSG00000152580	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10935848	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13088575	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2087728	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101647	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3975409	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440741	0.89[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs6440743	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6792496	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs7611956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7652056	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs937119	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs937120	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs937127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9840738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9873499	0.81[ASN][1000 genomes]
rs9878370	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151129400-151162800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:151133400-151154800	Weak transcription	Fetal Brain Male	brain
3	chr3:151140200-151157000	Weak transcription	Dnd41	blood
4	chr3:151144800-151155000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:151147200-151157800	Weak transcription	Aorta	Aorta
6	chr3:151148400-151161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:151148800-151162400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:151150000-151156800	Weak transcription	Pancreas	Pancrea
9	chr3:151150400-151157200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:151150400-151158200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:151151200-151158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:151152200-151155000	Enhancers	NHLF	lung
13	chr3:151152600-151155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:151152800-151155000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:151152800-151155600	Enhancers	NHDF-Ad	bronchial
16	chr3:151153200-151156000	Weak transcription	HSMM	muscle
17	chr3:151153200-151157200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:151153200-151157600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:151153200-151158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:151153400-151155000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:151153400-151157400	Weak transcription	A549	lung
22	chr3:151153400-151162600	Weak transcription	Osteobl	bone
23	chr3:151153600-151158400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:151154600-151154800	Enhancers	Fetal Muscle Leg	muscle
25	chr3:151154600-151155200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:151154600-151155800	Strong transcription	Ovary	ovary
27	chr3:151154600-151156000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:151154600-151156400	Strong transcription	Fetal Lung	lung

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