Variant report

Variant	rs4768805
Chromosome Location	chr12:47742628-47742629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47734064..47736390-chr12:47741150..47743905,2	K562	blood:

Variant related genes	Relation type
ENSG00000258116	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10492012	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183874	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183875	0.84[EUR][1000 genomes]
rs11183877	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183879	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183880	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183881	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183883	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183884	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183885	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11183886	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183890	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183891	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183892	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183894	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183897	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183898	0.83[EUR][1000 genomes]
rs11183900	0.83[EUR][1000 genomes]
rs11183969	1.00[JPT][hapmap]
rs12809955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12814452	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12817826	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12818420	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12827137	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12830961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12832953	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1421356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1833456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2040644	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2040645	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2040646	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2040647	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs215340	0.88[CHB][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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47740800-47743000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:47740800-47743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:47740800-47743400	Weak transcription	Osteobl	bone
5	chr12:47741000-47743000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:47741000-47743600	Weak transcription	Stomach Mucosa	stomach
7	chr12:47742000-47744800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:47742200-47744800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:47742200-47744800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:47742200-47745000	Enhancers	Primary T cells from cord blood	blood
11	chr12:47742400-47742800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:47742400-47744600	Enhancers	Dnd41	blood
13	chr12:47742400-47744800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:47742400-47745000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:47742400-47745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:47742400-47745000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:47742400-47745000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:47742400-47747600	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:47742600-47743600	Weak transcription	Fetal Brain Male	brain
20	chr12:47742600-47744600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:47742600-47744800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:47742600-47744800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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