Variant report

Variant	rs2733333
Chromosome Location	chr15:57435926-57435927
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	chr15:57428236..57433536-chr15:57434011..57440588,9	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10467927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10467928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10467929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11071308	0.83[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs11853810	0.91[JPT][hapmap]
rs11856210	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11856411	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12101455	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591430	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13379847	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1430822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs16977243	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16977270	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16977278	0.83[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap]
rs16977374	0.82[JPT][hapmap]
rs17415731	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1841697	0.86[EUR][1000 genomes]
rs2169467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2414493	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2593211	0.82[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2593249	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes]
rs2593250	0.87[EUR][1000 genomes]
rs2593252	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2615227	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2703614	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2733323	0.82[JPT][hapmap]
rs2733334	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28372003	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28712697	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28781690	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3803453	0.87[GIH][hapmap];0.91[JPT][hapmap]
rs58479554	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67077316	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7163267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7164298	0.83[CHB][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap]
rs7164655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7169508	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7171073	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7171304	1.00[CEU][hapmap]
rs7173748	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7176873	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs7178833	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs7180558	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs720290	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8023736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8024901	0.91[JPT][hapmap]
rs8026702	0.83[CHB][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap]
rs8031640	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs8032615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs8034066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs8034502	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes]
rs8034744	0.86[TSI][hapmap]
rs8034843	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs8035485	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs8035916	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037956	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs8039176	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs8039899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9302200	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap]
rs9672676	0.86[TSI][hapmap]
rs9806170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9806199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997683	0.91[JPT][hapmap]

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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2733333	LOC283663	Cis_1M	lymphoblastoid	RTeQTL
rs2733333	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57410600-57440800	Weak transcription	Ovary	ovary
3	chr15:57415000-57438800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:57415600-57438800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:57416000-57438800	Weak transcription	Primary B cells from cord blood	blood
6	chr15:57419600-57439000	Weak transcription	Fetal Intestine Small	intestine
7	chr15:57421800-57436600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:57425800-57438800	Weak transcription	HSMM	muscle
9	chr15:57425800-57440800	Weak transcription	Thymus	Thymus
10	chr15:57425800-57442200	Weak transcription	Right Ventricle	heart
11	chr15:57426800-57436200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:57426800-57438400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:57427200-57440000	Weak transcription	Fetal Stomach	stomach
14	chr15:57427400-57436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:57427400-57439000	Weak transcription	A549	lung
16	chr15:57427400-57442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:57427600-57440600	Weak transcription	Dnd41	blood
18	chr15:57428200-57437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:57428400-57438800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:57428400-57442200	Weak transcription	Primary T cells from cord blood	blood
21	chr15:57428600-57436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:57428600-57438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:57428600-57438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:57428600-57438800	Weak transcription	Liver	Liver
25	chr15:57428600-57438800	Weak transcription	NHDF-Ad	bronchial
26	chr15:57428600-57438800	Weak transcription	NHLF	lung
27	chr15:57428600-57444000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:57428800-57436200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:57428800-57438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:57429000-57437800	Weak transcription	Brain Germinal Matrix	brain
31	chr15:57429200-57438800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:57430600-57438800	Weak transcription	NH-A	brain
33	chr15:57430800-57436200	Weak transcription	Brain Anterior Caudate	brain
34	chr15:57431000-57436200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:57431000-57438000	Weak transcription	Brain Angular Gyrus	brain
36	chr15:57431000-57438600	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:57431000-57438600	Weak transcription	HUVEC	blood vessel
38	chr15:57431000-57438800	Weak transcription	Adipose Nuclei	Adipose
39	chr15:57431600-57438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:57432800-57436800	Weak transcription	Left Ventricle	heart
41	chr15:57433000-57444000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:57433600-57438800	Weak transcription	Fetal Heart	heart
43	chr15:57434400-57438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:57434600-57436200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:57434800-57436200	Weak transcription	Fetal Thymus	thymus
46	chr15:57435200-57436000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:57435200-57436800	Enhancers	Fetal Lung	lung
48	chr15:57435400-57436200	Enhancers	Brain Hippocampus Middle	brain
49	chr15:57435400-57436800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr15:57435400-57438800	Enhancers	Cortex derived primary cultured neurospheres	brain

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