Variant report

Variant	rs1642948
Chromosome Location	chr12:47742935-47742936
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1345524	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1620557	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642944	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642945	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642946	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642947	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1642949	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1730448	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730449	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730452	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730454	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078033	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141517	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141518	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936554	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2936555	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];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	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	chr12:47742400-47744600	Enhancers	Dnd41	blood
12	chr12:47742400-47744800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:47742400-47745000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:47742400-47745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:47742400-47745000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:47742400-47745000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:47742400-47747600	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:47742600-47743600	Weak transcription	Fetal Brain Male	brain
19	chr12:47742600-47744600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:47742600-47744800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:47742600-47744800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:47742800-47743200	Enhancers	Primary T helper cells PMA-I stimulated	--

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