Variant report

Variant	rs6780015
Chromosome Location	chr3:105502097-105502098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10490830	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13062734	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes]
rs13070917	1.00[JPT][hapmap]
rs13073784	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13082334	1.00[JPT][hapmap]
rs3732554	1.00[JPT][hapmap]
rs7615317	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
rs6780015	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105467600-105509400	Weak transcription	Stomach Mucosa	stomach
2	chr3:105472400-105504400	Weak transcription	HUVEC	blood vessel
3	chr3:105478600-105509400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:105478600-105511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:105481400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:105481800-105507400	Weak transcription	HSMM	muscle
7	chr3:105482000-105503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:105482000-105509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:105482000-105509600	Weak transcription	Ovary	ovary
10	chr3:105482000-105510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:105482000-105511200	Weak transcription	Aorta	Aorta
12	chr3:105482800-105517400	Weak transcription	Fetal Intestine Large	intestine
13	chr3:105483200-105506200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
15	chr3:105486800-105519000	Weak transcription	Esophagus	oesophagus
16	chr3:105487000-105508400	Weak transcription	Fetal Lung	lung
17	chr3:105487200-105508400	Weak transcription	Fetal Kidney	kidney
18	chr3:105487400-105504200	Weak transcription	Fetal Heart	heart
19	chr3:105489400-105506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:105489600-105509600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:105489600-105525400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:105493000-105502400	Weak transcription	Brain Anterior Caudate	brain
23	chr3:105493000-105511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:105493000-105511200	Weak transcription	Right Atrium	heart
25	chr3:105493200-105509000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:105494000-105506200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:105494400-105509400	Weak transcription	Primary B cells from cord blood	blood
28	chr3:105494400-105516200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:105495000-105509600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:105495400-105517200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:105495600-105503800	Weak transcription	GM12878-XiMat	blood
32	chr3:105495600-105504600	Weak transcription	Osteobl	bone
33	chr3:105495600-105509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:105496200-105506000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:105496400-105510800	Weak transcription	Right Ventricle	heart
36	chr3:105496400-105514000	Weak transcription	Lung	lung
37	chr3:105500000-105502800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr3:105500600-105503000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:105500600-105507400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:105500800-105502800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:105500800-105504000	Enhancers	Primary T cells from cord blood	blood
42	chr3:105500800-105506800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:105500800-105507600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:105501000-105504400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:105501200-105502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:105501200-105504200	Weak transcription	NHDF-Ad	bronchial
47	chr3:105501200-105505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:105501200-105508400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:105501200-105509400	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:105501200-105509600	Weak transcription	Small Intestine	intestine

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