Variant report

Variant	rs7651784
Chromosome Location	chr3:105554580-105554581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105552724..105554590-chr3:105555325..105557862,2	K562	blood:
2	chr3:105553976..105556329-chr3:105573888..105575863,2	MCF-7	breast:
3	chr3:105552906..105555738-chr3:105560216..105562214,2	K562	blood:
4	chr3:105533973..105536078-chr3:105552694..105554794,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10511246	0.81[CEU][hapmap]
rs10804442	0.94[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10933833	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11711088	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11924742	0.93[CEU][hapmap]
rs12636287	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13060223	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13085563	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13100446	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1443102	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470283	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550711	1.00[ASW][hapmap]
rs1867191	1.00[ASW][hapmap]
rs1867192	0.87[CEU][hapmap]
rs1867195	0.94[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1910499	0.87[CEU][hapmap]
rs1992522	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2055557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2089091	0.87[CEU][hapmap]
rs2099892	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120105	0.83[ASW][hapmap]
rs2197209	0.87[CEU][hapmap]
rs2399056	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28427229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28533328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3996189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894950	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894953	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894954	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4894957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894960	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4894962	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6437621	0.87[CEU][hapmap]
rs6437624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6767627	0.87[CEU][hapmap]
rs6788366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795961	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6807382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627856	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs726443	1.00[ASW][hapmap]
rs7432372	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7629357	0.87[CEU][hapmap]
rs7637327	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7641825	0.81[CEU][hapmap]
rs7645021	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7647955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649466	0.81[CEU][hapmap]
rs769315	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9657904	0.87[CEU][hapmap]
rs971110	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9841500	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846534	0.87[CEU][hapmap]
rs9869648	0.87[CEU][hapmap]
rs9874600	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv508234	chr3:105549864-105565806	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	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
rs7651784	CBLB	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
3	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:105533800-105570000	Weak transcription	Dnd41	blood
6	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
7	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
8	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
10	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:105543400-105555800	Weak transcription	HepG2	liver
12	chr3:105543400-105560800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:105543400-105581200	Weak transcription	Gastric	stomach
14	chr3:105543600-105557200	Weak transcription	Fetal Intestine Large	intestine
15	chr3:105543800-105571000	Weak transcription	Lung	lung
16	chr3:105544200-105559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:105546600-105586200	Weak transcription	Esophagus	oesophagus
19	chr3:105546800-105560800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:105547200-105554600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:105547200-105554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:105547200-105554800	Weak transcription	Ovary	ovary
23	chr3:105547200-105555000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:105547200-105557400	Weak transcription	Fetal Intestine Small	intestine
25	chr3:105547400-105557200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:105547800-105554600	Weak transcription	HMEC	breast
27	chr3:105547800-105554800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:105547800-105555400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:105547800-105557400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:105548400-105561200	Weak transcription	K562	blood
31	chr3:105548400-105561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:105548600-105559600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:105549000-105554600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:105549000-105555000	Weak transcription	Right Ventricle	heart
35	chr3:105549000-105560800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:105549000-105571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:105549200-105555400	Weak transcription	Psoas Muscle	Psoas
38	chr3:105549200-105564400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:105549400-105557200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:105549600-105558000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:105549800-105554600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:105549800-105554600	Weak transcription	Stomach Mucosa	stomach
43	chr3:105549800-105556000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:105550000-105562600	Weak transcription	HUVEC	blood vessel
45	chr3:105550000-105569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:105550400-105554800	Weak transcription	Small Intestine	intestine
47	chr3:105550400-105555000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:105550400-105555000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:105550400-105555400	Weak transcription	Left Ventricle	heart
50	chr3:105551000-105556800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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