Variant report

Variant	rs17202348
Chromosome Location	chr3:105454483-105454484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1042852	0.80[AMR][1000 genomes]
rs11706886	0.88[AMR][1000 genomes]
rs11713094	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11915926	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11929289	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12493181	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493560	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12695122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12695123	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13059405	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13061160	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13064310	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065142	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13083716	0.80[AMR][1000 genomes]
rs13084260	0.80[AMR][1000 genomes]
rs13093260	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13315174	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13317635	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1443105	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1443106	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1443108	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1530420	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1545304	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1867189	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1867190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2083758	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2083761	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2120585	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2244737	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2284993	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2301029	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301032	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301037	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301040	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301041	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301043	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301050	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2301051	0.80[AMR][1000 genomes]
rs2305034	0.82[EUR][1000 genomes]
rs2305035	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305036	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305037	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2399054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2399055	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28532512	0.80[AMR][1000 genomes]
rs34520191	0.83[AMR][1000 genomes]
rs34896116	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35748894	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35834008	0.83[AMR][1000 genomes]
rs3772513	0.88[AMR][1000 genomes]
rs3772515	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3772521	0.88[AMR][1000 genomes]
rs3772526	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3772527	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3772531	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3772536	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3772537	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3821488	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4321559	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4627779	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6437611	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6437614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6773661	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6796643	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs726444	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7615317	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7619647	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7624530	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7646445	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7649520	0.88[AMR][1000 genomes]
rs7652702	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs894937	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9288815	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9657915	0.80[AMR][1000 genomes]
rs9816486	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9821956	0.83[EUR][1000 genomes]
rs9840891	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9859953	0.83[EUR][1000 genomes]
rs9860539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9870097	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9872897	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9873552	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9876767	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9877805	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9878058	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9880861	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9883858	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs999046	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv591243	chr3:105438320-105470134	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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
10	nsv591245	chr3:105438806-105469882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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
12	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
rs17202348	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
4	chr3:105407800-105457800	Weak transcription	HepG2	liver
5	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
6	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:105438800-105464000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:105438800-105465400	Weak transcription	Fetal Heart	heart
11	chr3:105439000-105457800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:105439000-105461600	Weak transcription	Dnd41	blood
13	chr3:105439000-105464000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:105439000-105464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:105439000-105465400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:105439000-105465800	Weak transcription	NHLF	lung
17	chr3:105439000-105466200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:105439000-105466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:105439000-105471200	Weak transcription	Fetal Thymus	thymus
20	chr3:105439000-105471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:105439000-105471400	Weak transcription	HMEC	breast
22	chr3:105439000-105471600	Weak transcription	Fetal Brain Male	brain
23	chr3:105439000-105475800	Weak transcription	Esophagus	oesophagus
24	chr3:105439000-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:105439000-105477400	Weak transcription	Lung	lung
26	chr3:105439000-105477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:105439200-105457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:105439200-105457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:105439200-105457800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:105439200-105457800	Weak transcription	Liver	Liver
31	chr3:105439200-105457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:105439200-105457800	Weak transcription	Pancreas	Pancrea
33	chr3:105439200-105458200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:105439200-105463400	Weak transcription	Fetal Stomach	stomach
35	chr3:105439200-105464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:105439200-105464600	Weak transcription	HUVEC	blood vessel
37	chr3:105439200-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:105439200-105465400	Weak transcription	Ovary	ovary
39	chr3:105439200-105465400	Weak transcription	Psoas Muscle	Psoas
40	chr3:105439200-105465600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:105439200-105465600	Weak transcription	Right Ventricle	heart
42	chr3:105439200-105465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:105439200-105477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:105439600-105465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:105439800-105464000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:105442200-105459200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:105443000-105458200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:105443200-105458600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:105444200-105457800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:105445800-105465600	Weak transcription	Gastric	stomach

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