Variant report

Variant	rs58449481
Chromosome Location	chr2:12006696-12006697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16857890	1.00[AMR][1000 genomes]
rs56249556	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56709747	1.00[AMR][1000 genomes]
rs56811883	1.00[AMR][1000 genomes]
rs57243791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434799	1.00[AMR][1000 genomes]
rs59456601	1.00[AMR][1000 genomes]
rs60509666	1.00[AMR][1000 genomes]
rs73915835	1.00[AMR][1000 genomes]
rs73915837	1.00[AMR][1000 genomes]
rs73915838	1.00[AMR][1000 genomes]
rs73915862	1.00[AMR][1000 genomes]
rs73915866	1.00[AMR][1000 genomes]
rs73915868	1.00[AMR][1000 genomes]
rs73915873	1.00[AMR][1000 genomes]
rs73915887	1.00[AMR][1000 genomes]
rs73915888	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508710	chr2:11982971-12028555	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12000200-12007800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12002400-12006800	Enhancers	Primary B cells from cord blood	blood
3	chr2:12003200-12009600	Weak transcription	Right Atrium	heart
4	chr2:12004200-12007000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:12004200-12012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:12004400-12008200	Weak transcription	NHEK	skin
7	chr2:12004400-12012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:12004400-12012800	Weak transcription	Esophagus	oesophagus
9	chr2:12004400-12012800	Weak transcription	Stomach Mucosa	stomach
10	chr2:12004400-12015400	Weak transcription	Gastric	stomach
11	chr2:12004600-12008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:12004600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:12004600-12009600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:12004600-12010000	Weak transcription	Fetal Heart	heart
15	chr2:12004600-12012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:12004800-12007800	Weak transcription	HMEC	breast
17	chr2:12004800-12009200	Weak transcription	NH-A	brain
18	chr2:12004800-12010000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:12005000-12009600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:12005000-12009600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:12005000-12013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:12005800-12007200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:12005800-12010800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:12006000-12006800	Enhancers	Left Ventricle	heart
25	chr2:12006000-12006800	Enhancers	Lung	lung
26	chr2:12006200-12006800	Enhancers	Placenta	Placenta
27	chr2:12006200-12007800	Enhancers	K562	blood
28	chr2:12006400-12008200	Weak transcription	Spleen	Spleen
29	chr2:12006400-12010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:12006600-12006800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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