Variant report

Variant	rs1805699
Chromosome Location	chr12:9193568-9193569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12304948	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16917969	1.00[TSI][hapmap]
rs1805713	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026250	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55770136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60862093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487550	1.00[EUR][1000 genomes]
rs7133355	1.00[EUR][1000 genomes]
rs7957038	1.00[CEU][hapmap]
rs7968986	1.00[EUR][1000 genomes]
rs887781	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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9188000-9198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:9188200-9194600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:9188800-9194200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9188800-9194200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9188800-9195600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9188800-9195800	Enhancers	Primary T cells from cord blood	blood
8	chr12:9189000-9193600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:9189000-9194200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:9191400-9196000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:9192000-9193800	Weak transcription	Fetal Heart	heart
12	chr12:9192600-9198800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:9192600-9199400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:9192800-9199000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:9193200-9199600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:9193400-9194200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:9193400-9197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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