Variant report

Variant	rs3772531
Chromosome Location	chr3:105437781-105437782
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	chr3:105435161..105438047-chr3:105586543..105588230,2	MCF-7	breast:
2	chr3:105435086..105438281-chr3:105439598..105442695,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114423	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1042852	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10446294	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11706886	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11713094	0.86[AMR][1000 genomes]
rs11915926	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11929289	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12493181	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493560	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12695122	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12695123	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13059405	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13061160	0.86[AMR][1000 genomes]
rs13064310	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13065142	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13083716	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13084260	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13093260	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13315174	0.86[AMR][1000 genomes]
rs13317635	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1443105	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1443106	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1443108	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1530420	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1545304	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17202230	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17202348	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1838046	0.83[EUR][1000 genomes]
rs1867189	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1867190	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2083758	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083761	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2120585	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2244737	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2284993	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2301029	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2301030	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2301032	0.86[AMR][1000 genomes]
rs2301037	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2301040	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2301041	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2301043	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2301050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2301051	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305035	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2305036	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2305037	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2399054	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2399055	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28532512	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34520191	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34896116	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35748894	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35834008	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3772513	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3772515	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772521	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3772526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772536	0.81[AMR][1000 genomes]
rs3772537	0.83[AMR][1000 genomes]
rs3821488	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4321559	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4627779	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6437611	0.83[AMR][1000 genomes]
rs6437614	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6773661	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6796643	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs726444	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7615317	0.88[AMR][1000 genomes]
rs7619647	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7624530	0.86[AMR][1000 genomes]
rs7646445	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7649520	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7652702	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs894937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9288815	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9657914	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9657915	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9816486	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9840891	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9860539	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9870097	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9872897	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9873552	0.83[AMR][1000 genomes]
rs9876767	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9877805	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9878058	0.86[AMR][1000 genomes]
rs9880861	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9883858	0.83[AMR][1000 genomes]
rs999046	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3772531	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	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
6	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
7	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
8	chr3:105394200-105438800	Weak transcription	NHEK	skin
9	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:105407800-105457800	Weak transcription	HepG2	liver
12	chr3:105408400-105440400	Weak transcription	A549	lung
13	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
15	chr3:105415600-105438000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:105421200-105438000	Weak transcription	Aorta	Aorta
20	chr3:105421200-105438200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:105421200-105438800	Weak transcription	Esophagus	oesophagus
22	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
24	chr3:105421400-105438000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:105423200-105438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:105429800-105441200	Strong transcription	Osteobl	bone
30	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr3:105430800-105439000	Strong transcription	Primary B cells from cord blood	blood
32	chr3:105431200-105439000	Strong transcription	Fetal Lung	lung
33	chr3:105431200-105439200	Strong transcription	Placenta	Placenta
34	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:105432000-105439400	Strong transcription	Primary T cells from cord blood	blood
36	chr3:105432000-105439400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:105432200-105439000	Strong transcription	HSMM	muscle
39	chr3:105432200-105439200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
41	chr3:105432400-105439000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:105432400-105439200	Strong transcription	Adipose Nuclei	Adipose
43	chr3:105432400-105439200	Strong transcription	Fetal Intestine Large	intestine
44	chr3:105432400-105439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:105433000-105438200	Weak transcription	Right Ventricle	heart
47	chr3:105433600-105438000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:105433600-105438000	Weak transcription	Lung	lung
49	chr3:105433600-105438200	Weak transcription	Fetal Stomach	stomach
50	chr3:105433600-105438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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