Variant report

Variant	rs1440730
Chromosome Location	chr3:143286344-143286345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1025813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13085041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099818	0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1371923	0.83[JPT][hapmap]
rs1525859	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986300	0.97[AFR][1000 genomes]
rs6781705	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800266	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7630200	0.85[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:143270600-143304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:143277400-143292400	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:143277400-143301200	Weak transcription	Esophagus	oesophagus
5	chr3:143277400-143303600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:143277400-143310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:143277600-143292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:143279000-143296200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:143281400-143292200	Weak transcription	Primary T cells from cord blood	blood
10	chr3:143284000-143287200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:143284000-143306400	Weak transcription	Spleen	Spleen
12	chr3:143284400-143287400	Enhancers	Fetal Intestine Small	intestine
13	chr3:143284400-143292600	Weak transcription	Brain Substantia Nigra	brain
14	chr3:143284400-143299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:143284600-143286800	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:143284600-143287000	Enhancers	Fetal Intestine Large	intestine
17	chr3:143285000-143300400	Weak transcription	Brain Anterior Caudate	brain
18	chr3:143285200-143290400	Weak transcription	Adipose Nuclei	Adipose
19	chr3:143285200-143290400	Weak transcription	Fetal Lung	lung
20	chr3:143285200-143290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:143285200-143292200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:143285400-143286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:143285400-143286600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:143285400-143290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:143285600-143296200	Weak transcription	Primary B cells from cord blood	blood
26	chr3:143285800-143287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:143286200-143286800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:143286200-143287600	Enhancers	HUVEC	blood vessel
29	chr3:143286200-143290400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr3:143286200-143290600	Weak transcription	Monocytes-CD14+_RO01746	blood

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