Variant report

Variant	rs6437612
Chromosome Location	chr3:105478795-105478796
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1372982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550711	0.85[EUR][1000 genomes]
rs1561919	0.86[EUR][1000 genomes]
rs1584028	0.85[EUR][1000 genomes]
rs1867191	0.86[EUR][1000 genomes]
rs2289746	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4476538	0.86[EUR][1000 genomes]
rs4894940	0.80[EUR][1000 genomes]
rs4894944	0.86[EUR][1000 genomes]
rs6767808	0.80[EUR][1000 genomes]
rs6787175	0.80[EUR][1000 genomes]
rs6800344	0.80[EUR][1000 genomes]
rs7615115	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7640740	0.86[EUR][1000 genomes]
rs7644634	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9876007	0.86[EUR][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
rs6437612	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105464800-105482600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:105465800-105483400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:105466000-105481200	Weak transcription	Fetal Kidney	kidney
4	chr3:105466600-105481400	Weak transcription	HepG2	liver
5	chr3:105467600-105480800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:105467600-105509400	Weak transcription	Stomach Mucosa	stomach
7	chr3:105472200-105499000	Weak transcription	NHDF-Ad	bronchial
8	chr3:105472400-105504400	Weak transcription	HUVEC	blood vessel
9	chr3:105472800-105480200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:105473000-105481400	Weak transcription	NH-A	brain
11	chr3:105473800-105478800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:105474600-105483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:105475200-105483000	Strong transcription	Osteobl	bone
14	chr3:105475200-105485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:105475600-105478800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:105475800-105483000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:105476000-105486600	Weak transcription	Psoas Muscle	Psoas
18	chr3:105476200-105480400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:105476400-105480400	Weak transcription	Small Intestine	intestine
20	chr3:105476400-105480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:105476600-105478800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:105477000-105478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:105477000-105478800	Genic enhancers	Primary T cells from cord blood	blood
24	chr3:105477000-105481200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:105477200-105478800	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr3:105477200-105478800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr3:105477200-105478800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr3:105477200-105478800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:105477200-105478800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr3:105477200-105478800	ZNF genes & repeats	Esophagus	oesophagus
31	chr3:105477200-105478800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr3:105477200-105478800	ZNF genes & repeats	Fetal Thymus	thymus
33	chr3:105477200-105478800	Genic enhancers	Left Ventricle	heart
34	chr3:105477200-105478800	ZNF genes & repeats	Spleen	Spleen
35	chr3:105477200-105478800	ZNF genes & repeats	GM12878-XiMat	blood
36	chr3:105477200-105479000	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr3:105477400-105478800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:105477400-105478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:105477400-105478800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:105477400-105478800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:105477400-105478800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:105477400-105478800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr3:105477400-105478800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr3:105477400-105478800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:105477400-105478800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:105477400-105478800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:105477400-105478800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:105477400-105478800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:105477400-105478800	ZNF genes & repeats	Aorta	Aorta
50	chr3:105477400-105478800	ZNF genes & repeats	Fetal Intestine Large	intestine

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