Variant report

Variant	rs829697
Chromosome Location	chr2:30652461-30652462
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	chr2:30647371..30649841-chr2:30651246..30653133,2	K562	blood:
2	chr2:30453036..30455279-chr2:30649671..30652674,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11692096	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs11895131	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs1252627	0.83[GIH][hapmap]
rs1252635	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs1723172	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17395007	0.82[CHB][hapmap]
rs17395091	0.82[CHB][hapmap];0.88[GIH][hapmap]
rs1869422	0.82[CHB][hapmap]
rs2253299	0.82[CHB][hapmap]
rs2593445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2593446	0.82[CHB][hapmap]
rs2593473	0.82[CHB][hapmap]
rs2602803	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs2609920	1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs57484347	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57637161	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711236	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711241	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829566	0.82[CHB][hapmap]
rs829568	0.87[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs829595	1.00[YRI][hapmap]
rs829621	0.82[CHB][hapmap]
rs829624	0.82[CHB][hapmap];0.87[GIH][hapmap]
rs829625	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829640	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829643	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829644	1.00[YRI][hapmap]
rs829652	0.82[CHB][hapmap]
rs829674	0.82[CHB][hapmap]
rs829676	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829683	0.82[CHB][hapmap]
rs829685	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs829688	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
3	chr2:30646000-30653400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:30646400-30656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
6	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
7	chr2:30648600-30655400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:30648600-30655400	Weak transcription	NHDF-Ad	bronchial
9	chr2:30648600-30655400	Weak transcription	Osteobl	bone
10	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:30650600-30652800	Enhancers	Primary T cells from cord blood	blood
12	chr2:30651600-30656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:30651600-30656600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30652000-30660800	Weak transcription	K562	blood
15	chr2:30652200-30655400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:30652400-30655400	Weak transcription	Fetal Heart	heart

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