Variant report

Variant	rs726443
Chromosome Location	chr3:105438320-105438321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10804442	0.94[ASW][hapmap]
rs11708360	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13060223	1.00[ASW][hapmap]
rs13061514	0.85[AMR][1000 genomes]
rs1443102	0.84[YRI][hapmap]
rs1522287	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1546733	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes]
rs1550711	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1561919	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1584028	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16851440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs1867191	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2034157	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2120105	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289746	0.91[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs2293148	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs2301044	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2301045	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2301046	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35903551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs4476538	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4894940	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes]
rs4894944	0.88[CHB][hapmap];0.87[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6437624	1.00[ASW][hapmap]
rs6767808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs6777124	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6787175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs6795961	1.00[ASW][hapmap]
rs6800344	0.88[AMR][1000 genomes]
rs7612189	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7615115	0.83[EUR][1000 genomes]
rs7640740	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645026	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7646159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7651784	1.00[ASW][hapmap]
rs769315	1.00[ASW][hapmap]
rs9832882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs9841500	1.00[ASW][hapmap]
rs9873655	0.85[AMR][1000 genomes]
rs9876007	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv877310	chr3:105409321-105495841	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv591243	chr3:105438320-105470134	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv591244	chr3:105438320-105495841	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs726443	CBLB	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
5	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
6	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
7	chr3:105394200-105438800	Weak transcription	NHEK	skin
8	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:105407800-105457800	Weak transcription	HepG2	liver
10	chr3:105408400-105440400	Weak transcription	A549	lung
11	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:105421200-105438800	Weak transcription	Esophagus	oesophagus
17	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
19	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:105423200-105438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:105429800-105441200	Strong transcription	Osteobl	bone
24	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:105430800-105439000	Strong transcription	Primary B cells from cord blood	blood
26	chr3:105431200-105439000	Strong transcription	Fetal Lung	lung
27	chr3:105431200-105439200	Strong transcription	Placenta	Placenta
28	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:105432000-105439400	Strong transcription	Primary T cells from cord blood	blood
30	chr3:105432000-105439400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:105432200-105439000	Strong transcription	HSMM	muscle
33	chr3:105432200-105439200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
35	chr3:105432400-105439000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:105432400-105439200	Strong transcription	Adipose Nuclei	Adipose
37	chr3:105432400-105439200	Strong transcription	Fetal Intestine Large	intestine
38	chr3:105432400-105439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:105433600-105438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:105434800-105438400	Weak transcription	Pancreas	Pancrea
45	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:105435000-105439000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:105435000-105439200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:105435000-105439200	Strong transcription	NHDF-Ad	bronchial
49	chr3:105435000-105440400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:105435400-105440400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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