Variant report

Variant	rs3772701
Chromosome Location	chr3:99980281-99980282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99949873..99952831-chr3:99980066..99981821,2	K562	blood:
2	chr3:99979418..99981870-chr3:100118340..100121144,2	K562	blood:
3	chr3:99534048..99538188-chr3:99977608..99981959,7	K562	blood:
4	chr3:99534888..99538188-chr3:99978029..99981295,5	K562	blood:
5	chr3:99534190..99537845-chr3:99978822..99982000,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10511178	0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10936147	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11709240	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11709563	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11710065	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228183	0.81[EUR][1000 genomes]
rs12629226	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12631115	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12633745	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12633821	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13072367	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13074365	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13075241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13078920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13079423	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13079881	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13098188	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16842060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16847139	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979540	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289509	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs277657	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs34314126	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34384409	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34700788	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34869521	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35141973	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35594119	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772694	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772696	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772697	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3806616	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4263320	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4928115	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4928122	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4928163	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4928165	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928168	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59233020	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61095099	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414385	0.81[ASN][1000 genomes]
rs66757043	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67403774	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6762794	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6763680	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6764125	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6764957	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6765158	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6772774	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6774538	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6787142	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6787301	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6791887	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794668	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6808469	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68094410	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71313591	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7611566	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7615300	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7625101	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3772701	CBLB	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99978600-99980400	Active TSS	Brain Angular Gyrus	brain
2	chr3:99978800-99980400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:99978800-99980400	Active TSS	Fetal Brain Male	brain
4	chr3:99978800-99980400	Active TSS	Stomach Smooth Muscle	stomach
5	chr3:99978800-99980600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr3:99978800-99980800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr3:99978800-99981000	Active TSS	Right Atrium	heart
8	chr3:99978800-99981800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:99978800-99982400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:99978800-99982400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:99979000-99980400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:99979000-99980400	Active TSS	Stomach Mucosa	stomach
13	chr3:99979000-99980600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:99979000-99980600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:99979000-99980600	Active TSS	Brain Germinal Matrix	brain
16	chr3:99979000-99980800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:99979000-99980800	Active TSS	Ovary	ovary
18	chr3:99979000-99980800	Bivalent/Poised TSS	HepG2	liver
19	chr3:99979000-99981000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr3:99979000-99981000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:99979000-99981000	Active TSS	Aorta	Aorta
22	chr3:99979000-99981000	Active TSS	Colonic Mucosa	Colon
23	chr3:99979000-99981000	Active TSS	Right Ventricle	heart
24	chr3:99979000-99981000	Active TSS	Thymus	Thymus
25	chr3:99979000-99981200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:99979000-99981200	Active TSS	Psoas Muscle	Psoas
27	chr3:99979000-99982400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:99979200-99980400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:99979200-99980400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:99979200-99980400	Active TSS	Liver	Liver
31	chr3:99979200-99980400	Active TSS	Brain Anterior Caudate	brain
32	chr3:99979200-99980400	Active TSS	Brain Cingulate Gyrus	brain
33	chr3:99979200-99980400	Active TSS	Brain Hippocampus Middle	brain
34	chr3:99979200-99980400	Active TSS	Brain Substantia Nigra	brain
35	chr3:99979200-99980400	Active TSS	Esophagus	oesophagus
36	chr3:99979200-99980400	Active TSS	Fetal Stomach	stomach
37	chr3:99979200-99980400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr3:99979200-99980600	Active TSS	Colon Smooth Muscle	Colon
39	chr3:99979200-99980600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:99979200-99980600	Active TSS	GM12878-XiMat	blood
41	chr3:99979200-99980800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:99979200-99980800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:99979200-99980800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:99979200-99980800	Active TSS	A549	lung
45	chr3:99979200-99981000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:99979200-99981000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:99979200-99981000	Active TSS	Fetal Intestine Large	intestine
48	chr3:99979200-99981000	Active TSS	Fetal Muscle Trunk	muscle
49	chr3:99979200-99981000	Active TSS	Left Ventricle	heart
50	chr3:99979200-99981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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