Variant report

Variant	rs11708360
Chromosome Location	chr3:105492220-105492221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13061514	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1522287	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1546733	0.82[AMR][1000 genomes]
rs1550711	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561919	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584028	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851440	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1867191	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010718	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2034157	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2120105	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289746	0.84[EUR][1000 genomes]
rs2301044	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301045	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301046	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35903551	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772539	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4476538	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894940	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4894944	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6767808	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6777124	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787175	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6800344	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs726443	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7612189	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7615115	0.85[EUR][1000 genomes]
rs7640740	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645026	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7646159	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832882	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9873655	0.81[AMR][1000 genomes]
rs9876007	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[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	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	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
3	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
4	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
5	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
6	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
7	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
8	nsv877311	chr3:105449986-105493286	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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
rs11708360	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105467600-105509400	Weak transcription	Stomach Mucosa	stomach
2	chr3:105472200-105499000	Weak transcription	NHDF-Ad	bronchial
3	chr3:105472400-105504400	Weak transcription	HUVEC	blood vessel
4	chr3:105478200-105495400	Weak transcription	HSMMtube	muscle
5	chr3:105478600-105509400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:105478600-105511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:105478800-105496200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:105481200-105500800	Weak transcription	Small Intestine	intestine
9	chr3:105481400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:105481600-105498000	Weak transcription	NH-A	brain
11	chr3:105481800-105507400	Weak transcription	HSMM	muscle
12	chr3:105482000-105492400	Weak transcription	HepG2	liver
13	chr3:105482000-105496200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:105482000-105496200	Weak transcription	Lung	lung
15	chr3:105482000-105503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:105482000-105509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:105482000-105509600	Weak transcription	Ovary	ovary
18	chr3:105482000-105510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:105482000-105511200	Weak transcription	Aorta	Aorta
20	chr3:105482200-105494600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:105482400-105493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:105482400-105494400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:105482400-105500000	Weak transcription	Fetal Stomach	stomach
24	chr3:105482800-105517400	Weak transcription	Fetal Intestine Large	intestine
25	chr3:105483200-105506200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
27	chr3:105484800-105494600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:105485200-105492400	Weak transcription	Osteobl	bone
29	chr3:105486800-105492600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:105486800-105493000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:105486800-105493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:105486800-105519000	Weak transcription	Esophagus	oesophagus
33	chr3:105487000-105492800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:105487000-105493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:105487000-105497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:105487000-105508400	Weak transcription	Fetal Lung	lung
37	chr3:105487200-105493000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:105487200-105508400	Weak transcription	Fetal Kidney	kidney
39	chr3:105487400-105494400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:105487400-105494800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:105487400-105500600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:105487400-105504200	Weak transcription	Fetal Heart	heart
43	chr3:105489000-105493200	Weak transcription	Primary B cells from cord blood	blood
44	chr3:105489400-105506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:105489600-105492600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:105489600-105494400	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:105489600-105494800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr3:105489600-105509600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:105489600-105525400	Weak transcription	Fetal Intestine Small	intestine
50	chr3:105489800-105492600	Weak transcription	Primary T cells fromperipheralblood	blood

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