Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8696556..8697442-chr12:9201824..9202588,3	K562	blood:
2	chr12:8834406..8835314-chr12:9201831..9202872,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313493	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313494	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12314142	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12314310	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12317136	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16917943	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16917957	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28769384	1.00[ASN][1000 genomes]
rs3026237	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3026240	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882973	1.00[ASN][1000 genomes]
rs4882974	1.00[ASN][1000 genomes]
rs4883205	0.80[AMR][1000 genomes]
rs4883207	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4883210	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310680	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7312460	1.00[ASN][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	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:16 , 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	chr12:9199600-9207000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:9199600-9216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:9199800-9216200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:9199800-9216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:9200000-9216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:9200000-9216200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:9200000-9216200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:9200000-9216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:9201400-9202200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:9201600-9202000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:9201600-9202200	Enhancers	Primary T cells from cord blood	blood
14	chr12:9201800-9202000	Enhancers	Left Ventricle	heart
15	chr12:9201800-9202400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9201800-9202600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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