Variant report

Variant	rs1799864
Chromosome Location	chr3:46399208-46399209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510751	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12495098	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17141006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800024	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1894389	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34138562	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35728689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62242983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62242995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246129	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62246130	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7632755	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46392400-46402600	Weak transcription	Spleen	Spleen
2	chr3:46394400-46401200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:46395800-46404200	Weak transcription	Right Atrium	heart
4	chr3:46396000-46401000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:46396000-46422000	Weak transcription	Lung	lung
6	chr3:46396400-46400800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:46396400-46401000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:46396800-46401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:46397000-46400800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:46397000-46401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:46397200-46401000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:46397400-46400600	Weak transcription	Primary B cells from cord blood	blood
13	chr3:46397800-46399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:46397800-46400800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:46397800-46401000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:46397800-46401000	Weak transcription	Fetal Thymus	thymus
17	chr3:46398000-46401000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:46398000-46401600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:46398000-46404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:46398200-46399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:46398200-46400600	Weak transcription	Fetal Stomach	stomach
22	chr3:46398400-46400400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:46398400-46401000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:46398400-46401400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
25	chr3:46398400-46402000	Weak transcription	Colonic Mucosa	Colon
26	chr3:46398600-46399400	Weak transcription	GM12878-XiMat	blood
27	chr3:46398600-46400400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:46398600-46402800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
29	chr3:46398800-46399600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr3:46398800-46399800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:46398800-46402000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:46399000-46400800	Weak transcription	Brain Germinal Matrix	brain
33	chr3:46399200-46399600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:46399200-46399600	Enhancers	Fetal Brain Male	brain
35	chr3:46399200-46400000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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