Variant report

Variant	rs13021484
Chromosome Location	chr2:31297427-31297428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10490518	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs10490519	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs10865087	0.85[EUR][1000 genomes]
rs11124238	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11124241	0.81[EUR][1000 genomes]
rs1122261	0.80[EUR][1000 genomes]
rs12463945	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs12466133	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993947	0.84[EUR][1000 genomes]
rs12994752	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006348	0.80[EUR][1000 genomes]
rs13023792	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035341	0.94[EUR][1000 genomes]
rs1862976	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1862978	0.82[CHD][hapmap];0.80[MEX][hapmap]
rs1862981	0.84[CHD][hapmap]
rs1991103	0.81[CHD][hapmap]
rs1991105	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2098787	0.82[CHD][hapmap]
rs2113490	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194464	0.82[TSI][hapmap]
rs2194465	0.86[EUR][1000 genomes]
rs2194470	0.86[EUR][1000 genomes]
rs2194471	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2216829	0.85[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2365192	0.81[CHD][hapmap]
rs2365193	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365195	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2365204	0.80[EUR][1000 genomes]
rs2886303	0.83[EUR][1000 genomes]
rs3919588	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4337517	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4630806	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543601	0.93[CEU][hapmap]
rs6708428	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs6748774	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6760378	0.81[EUR][1000 genomes]
rs749709	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749710	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749711	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7565904	0.81[EUR][1000 genomes]
rs7592634	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880618	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13021484	C2orf71	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:31293000-31298000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:31293800-31298200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31294200-31298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31294400-31298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:31294400-31298400	Weak transcription	HMEC	breast
13	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:31294600-31297800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:31294600-31298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:31294600-31298400	Weak transcription	NHEK	skin
17	chr2:31294600-31298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:31294800-31297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:31294800-31297800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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