Variant report

Variant	rs212719
Chromosome Location	chr2:32464462-32464463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32463297..32465974-chr2:32475784..32478393,2	K562	blood:
2	chr2:32459736..32462357-chr2:32463296..32464848,2	K562	blood:
3	chr2:32462083..32465466-chr2:32467498..32469177,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs212709	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs212750	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs216537	0.89[YRI][hapmap]
rs2365556	1.00[AMR][1000 genomes]
rs389734	1.00[EUR][1000 genomes]
rs420225	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs420731	1.00[LWK][hapmap]
rs449537	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs483796	1.00[CEU][hapmap]
rs552555	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs6543650	1.00[CEU][hapmap]
rs6543651	0.87[ASW][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap]
rs6543652	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking 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 target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:32448800-32465400	Weak transcription	Osteobl	bone
6	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
7	chr2:32448800-32475600	Weak transcription	Lung	lung
8	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:32451400-32466400	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:32451600-32464800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:32451600-32466200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:32451600-32466400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:32451600-32475600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:32451800-32467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:32452000-32475400	Weak transcription	Spleen	Spleen
16	chr2:32452200-32466400	Weak transcription	Liver	Liver
17	chr2:32452200-32467400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:32452200-32468200	Weak transcription	Primary T cells from cord blood	blood
19	chr2:32452200-32479400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:32452600-32467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:32457400-32465000	Weak transcription	A549	lung
22	chr2:32460000-32477000	Weak transcription	Placenta	Placenta
23	chr2:32462200-32465000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:32462200-32465000	Strong transcription	Primary B cells from cord blood	blood
25	chr2:32462800-32466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:32463600-32487000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:32463800-32467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:32464000-32466200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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