Variant report

Variant	rs1730449
Chromosome Location	chr12:47744680-47744681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1345524	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1620557	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642944	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642945	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642946	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642947	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1642948	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]
rs1642949	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1730448	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730452	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730454	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2078033	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141517	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141518	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936554	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2936555	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[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:26 , 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	chr12:47742000-47744800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:47742200-47744800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:47742200-47744800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:47742200-47745000	Enhancers	Primary T cells from cord blood	blood
6	chr12:47742400-47744800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47742400-47745000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:47742400-47745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:47742400-47745000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:47742400-47745000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:47742400-47747600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:47742600-47744800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:47742600-47744800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:47743000-47744800	Enhancers	Primary B cells from cord blood	blood
15	chr12:47743000-47744800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:47743600-47744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:47743600-47744800	Enhancers	Fetal Brain Male	brain
18	chr12:47743600-47744800	Enhancers	HUVEC	blood vessel
19	chr12:47744200-47749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:47744400-47745000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr12:47744600-47746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:47744600-47749200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:47744600-47749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:47744600-47749600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:47744600-47749800	Weak transcription	Osteobl	bone
26	chr12:47744600-47753800	Weak transcription	Fetal Thymus	thymus

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