Variant report

Variant	rs7569754
Chromosome Location	chr2:30502177-30502178
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10171296	1.00[CHD][hapmap]
rs10495774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467407	1.00[CHD][hapmap]
rs12469902	1.00[ASN][1000 genomes]
rs12472981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13396720	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406665	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410030	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410363	0.87[AMR][1000 genomes]
rs17322090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322097	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394102	1.00[ASN][1000 genomes]
rs6733372	1.00[CHD][hapmap]
rs72787730	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787745	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787748	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574911	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7579019	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604484	1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap]
rs7606266	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608977	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9558	1.00[CHD][hapmap]
rs9967884	1.00[CHD][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
3	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30494800-30505800	Weak transcription	K562	blood
5	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
7	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
8	chr2:30497800-30505600	Weak transcription	Spleen	Spleen
9	chr2:30497800-30516400	Weak transcription	Gastric	stomach
10	chr2:30498000-30505600	Weak transcription	Fetal Stomach	stomach
11	chr2:30498400-30503600	Weak transcription	NH-A	brain
12	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
13	chr2:30500000-30504800	Weak transcription	GM12878-XiMat	blood
14	chr2:30500200-30503400	Weak transcription	A549	lung
15	chr2:30500600-30503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:30500600-30503400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:30500800-30503600	Weak transcription	HSMMtube	muscle
18	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
19	chr2:30501600-30502200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30501600-30502200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:30501600-30503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:30501800-30511000	Weak transcription	HSMM	muscle
23	chr2:30502000-30503600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:30502000-30505400	Weak transcription	Primary T cells from cord blood	blood
25	chr2:30502000-30505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:30502000-30505600	Weak transcription	Fetal Thymus	thymus
27	chr2:30502000-30510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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