Variant report

Variant	rs7574911
Chromosome Location	chr2:30500715-30500716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495774	0.90[CEU][hapmap]
rs12472981	0.87[AMR][1000 genomes]
rs13396720	0.85[AMR][1000 genomes]
rs13406665	0.92[AMR][1000 genomes]
rs13410030	0.84[AMR][1000 genomes]
rs13410363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322090	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs17322097	0.83[AMR][1000 genomes]
rs7562727	0.89[ASN][1000 genomes]
rs7563661	0.91[CEU][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7569754	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7572714	0.87[AMR][1000 genomes]
rs7579019	0.92[AMR][1000 genomes]
rs7587320	0.91[CEU][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7606266	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7608977	0.92[AMR][1000 genomes]

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:34 , 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	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
3	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
6	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:30494800-30505800	Weak transcription	K562	blood
8	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:30496600-30501600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
11	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
12	chr2:30497600-30501600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:30497800-30500800	Weak transcription	Lung	lung
14	chr2:30497800-30505600	Weak transcription	Spleen	Spleen
15	chr2:30497800-30516400	Weak transcription	Gastric	stomach
16	chr2:30498000-30505600	Weak transcription	Fetal Stomach	stomach
17	chr2:30498400-30501600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:30498400-30503600	Weak transcription	NH-A	brain
19	chr2:30498600-30501000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30499000-30500800	Enhancers	HSMMtube	muscle
21	chr2:30499400-30501000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:30499400-30501800	Enhancers	HSMM	muscle
23	chr2:30499600-30501400	Weak transcription	Thymus	Thymus
24	chr2:30499600-30501600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:30499800-30501600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
27	chr2:30500000-30504800	Weak transcription	GM12878-XiMat	blood
28	chr2:30500200-30501600	Weak transcription	Fetal Thymus	thymus
29	chr2:30500200-30503400	Weak transcription	A549	lung
30	chr2:30500400-30501400	Weak transcription	Primary B cells from cord blood	blood
31	chr2:30500600-30500800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:30500600-30500800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:30500600-30503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:30500600-30503400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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