Variant report

Variant	rs2120105
Chromosome Location	chr3:105527935-105527936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10804442	0.80[GIH][hapmap]
rs11708360	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13060223	0.83[ASW][hapmap];0.80[GIH][hapmap]
rs1522287	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1546733	1.00[CHB][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs1550711	0.83[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1561919	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1584028	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16851440	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1867191	0.83[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2010718	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2034157	0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2289746	0.82[CEU][hapmap]
rs2293148	1.00[CHB][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap]
rs2301044	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301045	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301046	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35903551	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772539	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs4476538	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4894940	1.00[CHB][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs4894944	0.88[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6437624	0.83[ASW][hapmap]
rs6767808	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6777124	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6787175	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs6795961	0.83[ASW][hapmap]
rs6800344	0.81[AMR][1000 genomes]
rs726443	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7612189	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7640740	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7645026	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7646159	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7651784	0.83[ASW][hapmap]
rs769315	0.83[ASW][hapmap];0.80[GIH][hapmap]
rs9832882	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9841500	0.83[ASW][hapmap]
rs9876007	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2120105	CBLB	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
4	chr3:105512200-105534200	Weak transcription	Left Ventricle	heart
5	chr3:105515400-105528200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:105515400-105539000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:105517800-105528200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:105517800-105528400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:105519200-105541600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:105520800-105531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:105521200-105530200	Weak transcription	HMEC	breast
12	chr3:105521200-105531200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:105521200-105536000	Weak transcription	Right Ventricle	heart
14	chr3:105521200-105546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:105521400-105528200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:105521400-105529200	Weak transcription	Psoas Muscle	Psoas
17	chr3:105521400-105530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:105521400-105541200	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:105521400-105542000	Weak transcription	Fetal Stomach	stomach
20	chr3:105521600-105528000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:105521600-105530200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:105522200-105528400	Weak transcription	Fetal Heart	heart
23	chr3:105522400-105529800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:105522400-105533800	Weak transcription	Brain Germinal Matrix	brain
25	chr3:105522400-105541200	Weak transcription	Primary T cells from cord blood	blood
26	chr3:105523000-105530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:105524000-105529000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:105524000-105530800	Weak transcription	NH-A	brain
29	chr3:105524200-105532200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:105524600-105530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:105524600-105530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:105524600-105541600	Weak transcription	Right Atrium	heart
33	chr3:105525400-105528800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr3:105525600-105540200	Weak transcription	NHLF	lung
35	chr3:105525800-105528000	Weak transcription	Liver	Liver
36	chr3:105525800-105528200	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:105525800-105530200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:105525800-105531200	Weak transcription	HSMM	muscle
39	chr3:105526000-105528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:105526000-105528200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:105526000-105530400	Weak transcription	GM12878-XiMat	blood
42	chr3:105526000-105530400	Weak transcription	NHEK	skin
43	chr3:105526000-105531000	Weak transcription	HUVEC	blood vessel
44	chr3:105526200-105528000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:105526200-105528200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:105526200-105528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:105526200-105530200	Weak transcription	NHDF-Ad	bronchial
48	chr3:105526200-105534000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:105526200-105541600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:105526200-105542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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