Variant report

Variant	rs3772527
Chromosome Location	chr3:105441542-105441543
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	chr3:105435086..105438281-chr3:105439598..105442695,3	MCF-7	breast:
2	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1042852	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10446294	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11706886	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11713094	0.86[AMR][1000 genomes]
rs11915926	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11929289	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12493181	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12493560	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12695122	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12695123	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13059405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13061160	0.86[AMR][1000 genomes]
rs13064310	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13065142	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13083716	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13084260	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13093260	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13315174	0.86[AMR][1000 genomes]
rs13317635	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1443105	0.96[CEU][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1443106	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443108	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1530420	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1545304	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17202230	0.86[AMR][1000 genomes]
rs17202348	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1838046	0.82[EUR][1000 genomes]
rs1867189	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1867190	0.90[YRI][hapmap];0.88[AMR][1000 genomes]
rs2083758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2083761	0.91[AMR][1000 genomes]
rs2120585	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2244737	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2284993	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2301029	0.81[CHB][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes]
rs2301030	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2301032	0.86[AMR][1000 genomes]
rs2301037	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2301040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2301041	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2301043	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2301050	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2301051	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2305035	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2305036	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2305037	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2399054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2399055	0.81[CHB][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28532512	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34520191	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34896116	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35748894	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35834008	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3772513	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3772515	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772521	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3772526	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772536	0.80[CHB][hapmap];0.81[AMR][1000 genomes]
rs3772537	0.80[CHB][hapmap];0.83[AMR][1000 genomes]
rs3821488	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4321559	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4627779	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6437611	0.83[AMR][1000 genomes]
rs6437614	0.88[AMR][1000 genomes]
rs6773661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6796643	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726444	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7615317	0.88[AMR][1000 genomes]
rs7619647	0.95[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7624530	0.86[AMR][1000 genomes]
rs7646445	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7649520	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7652702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs894937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9288815	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9657914	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9657915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9816486	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9840891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9860539	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9870097	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9872897	0.81[YRI][hapmap];0.88[AMR][1000 genomes]
rs9873552	0.83[AMR][1000 genomes]
rs9876767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877805	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9878058	0.86[AMR][1000 genomes]
rs9880861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883858	0.83[AMR][1000 genomes]
rs999046	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv591245	chr3:105438806-105469882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv591246	chr3:105439522-105504129	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3772527	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 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	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
4	chr3:105407800-105457800	Weak transcription	HepG2	liver
5	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
11	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
14	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:105438400-105441800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:105438800-105442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:105438800-105442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:105438800-105464000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:105438800-105465400	Weak transcription	Fetal Heart	heart
24	chr3:105439000-105441600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:105439000-105441800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:105439000-105441800	Weak transcription	Brain Anterior Caudate	brain
27	chr3:105439000-105442000	Weak transcription	Fetal Brain Female	brain
28	chr3:105439000-105442400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:105439000-105442800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:105439000-105445400	Weak transcription	Fetal Lung	lung
31	chr3:105439000-105446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:105439000-105447200	Weak transcription	HSMM	muscle
33	chr3:105439000-105450600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:105439000-105457800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:105439000-105461600	Weak transcription	Dnd41	blood
36	chr3:105439000-105464000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr3:105439000-105464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:105439000-105465400	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:105439000-105465800	Weak transcription	NHLF	lung
40	chr3:105439000-105466200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:105439000-105466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:105439000-105471200	Weak transcription	Fetal Thymus	thymus
43	chr3:105439000-105471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:105439000-105471400	Weak transcription	HMEC	breast
45	chr3:105439000-105471600	Weak transcription	Fetal Brain Male	brain
46	chr3:105439000-105475800	Weak transcription	Esophagus	oesophagus
47	chr3:105439000-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:105439000-105477400	Weak transcription	Lung	lung
49	chr3:105439000-105477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:105439200-105441600	Weak transcription	Monocytes-CD14+_RO01746	blood

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