Variant report

Variant	rs2120585
Chromosome Location	chr3:105402744-105402745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1042852	0.95[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10446294	0.90[AMR][1000 genomes]
rs10490830	0.85[CHB][hapmap]
rs11706886	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11713094	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11915926	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11929289	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12493181	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12493560	0.86[AMR][1000 genomes]
rs12695122	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12695123	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13059405	0.92[CEU][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13061160	0.81[AMR][1000 genomes]
rs13062734	0.86[CHB][hapmap]
rs13064310	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13065142	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13070917	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs13073784	0.81[CHB][hapmap]
rs13082334	0.93[CHB][hapmap]
rs13083716	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13084260	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13093260	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13315174	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13317635	0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1443105	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1443106	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1443108	0.95[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530420	0.95[CEU][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1545304	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17202230	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17202348	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1867189	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1867190	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2083758	0.92[CEU][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2083761	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2244737	1.00[CEU][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2284993	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2301030	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2301032	0.81[AMR][1000 genomes]
rs2301037	0.86[AMR][1000 genomes]
rs2301040	0.81[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2301041	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2301043	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2301050	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301051	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305035	0.84[AMR][1000 genomes]
rs2305036	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2305037	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2399054	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2399055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28532512	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34520191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34896116	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35748894	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35834008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3732554	0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs3772513	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3772515	0.87[CEU][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3772521	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3772526	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3772527	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3772531	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3772536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3772537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3821488	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4321559	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4627779	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6437611	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6437614	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6773661	0.91[CEU][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6796643	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs726444	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7615317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs7619647	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7624530	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7646445	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7649520	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7652702	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs894937	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9288815	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9657914	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9657915	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9816486	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9840891	0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9860539	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9870097	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9872897	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9873552	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9876767	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9877805	0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9878058	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9880861	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9883858	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs999046	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2120585	CBLB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:105375800-105405000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
6	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
7	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
10	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
12	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
14	chr3:105380600-105411800	Weak transcription	Brain Substantia Nigra	brain
15	chr3:105382200-105404800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:105382400-105405000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:105382800-105404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:105384600-105404600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:105385000-105404600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:105385200-105404400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:105385400-105405200	Strong transcription	Osteobl	bone
22	chr3:105385400-105411000	Weak transcription	HMEC	breast
23	chr3:105385600-105404400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:105385600-105404400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:105385800-105404400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:105387200-105420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:105388400-105421000	Weak transcription	Gastric	stomach
28	chr3:105388600-105419800	Weak transcription	Brain Germinal Matrix	brain
29	chr3:105389000-105407200	Weak transcription	HepG2	liver
30	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
31	chr3:105390800-105403600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:105390800-105404600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:105390800-105406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:105391200-105404600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:105392200-105403200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:105392200-105404400	Strong transcription	Placenta	Placenta
37	chr3:105392600-105404200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:105393600-105420800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:105393800-105405000	Weak transcription	Aorta	Aorta
40	chr3:105394200-105405200	Weak transcription	A549	lung
41	chr3:105394200-105438800	Weak transcription	NHEK	skin
42	chr3:105395200-105403800	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:105395200-105404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:105395800-105403800	Weak transcription	Esophagus	oesophagus
45	chr3:105396000-105411800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:105396000-105420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:105396000-105420800	Weak transcription	Brain Angular Gyrus	brain
48	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
49	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
50	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain

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