Variant report

Variant	rs2305034
Chromosome Location	chr3:105439311-105439312
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12493560	0.82[EUR][1000 genomes]
rs12695122	0.82[EUR][1000 genomes]
rs13064310	0.83[EUR][1000 genomes]
rs1545304	0.83[EUR][1000 genomes]
rs17202348	0.82[EUR][1000 genomes]
rs1838046	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2301030	0.82[EUR][1000 genomes]
rs2301037	0.83[EUR][1000 genomes]
rs2301040	0.83[EUR][1000 genomes]
rs2301041	0.83[EUR][1000 genomes]
rs2301043	0.83[EUR][1000 genomes]
rs2305035	0.83[EUR][1000 genomes]
rs2305036	0.83[EUR][1000 genomes]
rs2399054	0.82[EUR][1000 genomes]
rs4627779	0.82[EUR][1000 genomes]
rs7652702	0.83[EUR][1000 genomes]
rs9288815	0.83[EUR][1000 genomes]
rs9821956	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9859953	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2305034	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 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	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
5	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
6	chr3:105407800-105457800	Weak transcription	HepG2	liver
7	chr3:105408400-105440400	Weak transcription	A549	lung
8	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
10	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
14	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
15	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:105429800-105441200	Strong transcription	Osteobl	bone
18	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:105432000-105439400	Strong transcription	Primary T cells from cord blood	blood
21	chr3:105432000-105439400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
24	chr3:105432400-105439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:105435000-105440400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:105435400-105440400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:105435400-105440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:105436400-105439400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:105436400-105440200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:105437000-105439400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:105437000-105439600	Strong transcription	GM12878-XiMat	blood
37	chr3:105437400-105439600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:105437400-105439800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:105437800-105440000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:105438400-105441800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:105438800-105442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:105438800-105442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:105438800-105464000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:105438800-105465400	Weak transcription	Fetal Heart	heart
45	chr3:105439000-105441400	Weak transcription	Primary B cells from cord blood	blood
46	chr3:105439000-105441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:105439000-105441600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:105439000-105441800	Weak transcription	Brain Angular Gyrus	brain
49	chr3:105439000-105441800	Weak transcription	Brain Anterior Caudate	brain
50	chr3:105439000-105442000	Weak transcription	Fetal Brain Female	brain

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