Variant report

Variant	rs2301043
Chromosome Location	chr3:105429152-105429153
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105429146..105430827-chr3:105431044..105433948,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1042852	0.92[ASW][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs11706886	0.85[AMR][1000 genomes]
rs11713094	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11915926	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11929289	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12486371	1.00[ASW][hapmap]
rs12493181	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12695122	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12695123	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13059405	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13061160	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13064310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13065142	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13083716	0.83[AMR][1000 genomes]
rs13084260	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs13093260	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13315174	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13317635	0.92[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1443105	0.81[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1443106	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1443108	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1530420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1545304	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17202348	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1867189	1.00[ASW][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1867190	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2083758	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2083761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2120585	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2244737	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2284993	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2301029	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301030	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301032	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301040	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301050	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2301051	0.83[AMR][1000 genomes]
rs2305034	0.83[EUR][1000 genomes]
rs2305035	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305036	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305037	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2399054	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2399055	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28532512	0.83[AMR][1000 genomes]
rs34520191	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34896116	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35748894	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35834008	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3772513	0.91[MKK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes]
rs3772515	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3772521	0.85[AMR][1000 genomes]
rs3772526	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3772527	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3772531	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3772536	0.89[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3772537	0.89[CEU][hapmap];0.96[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3821488	0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4321559	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4627779	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6437611	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6437614	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6773661	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6796643	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs726444	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7615317	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7619647	1.00[ASW][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7624530	0.92[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7639888	0.92[ASW][hapmap]
rs7641825	0.85[ASW][hapmap]
rs7646445	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7649520	0.85[AMR][1000 genomes]
rs7652702	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs894937	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9288815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9657914	0.81[AMR][1000 genomes]
rs9657915	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs9816486	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9821956	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs9840891	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9859953	0.90[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs9860539	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9870097	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9872897	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9873552	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9876110	0.92[ASW][hapmap]
rs9876767	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9877805	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9878058	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9880861	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9883858	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs999046	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2301043	CD47	cis	parietal	SCAN
rs2301043	CBLB	Cis_1M	lymphoblastoid	RTeQTL
rs2301043	CBLB	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 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	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
6	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
8	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
9	chr3:105394200-105438800	Weak transcription	NHEK	skin
10	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
11	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
12	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:105396200-105430400	Weak transcription	Fetal Brain Male	brain
16	chr3:105400000-105437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:105401000-105432200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:105401600-105433800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:105405200-105437200	Weak transcription	NHLF	lung
20	chr3:105407800-105457800	Weak transcription	HepG2	liver
21	chr3:105408400-105440400	Weak transcription	A549	lung
22	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:105410800-105437600	Weak transcription	Fetal Heart	heart
24	chr3:105412000-105434000	Weak transcription	HMEC	breast
25	chr3:105412400-105437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:105412600-105437400	Weak transcription	Dnd41	blood
28	chr3:105415600-105438000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:105417200-105436800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:105418400-105432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:105420400-105430600	Weak transcription	Fetal Kidney	kidney
34	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:105421200-105432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:105421200-105432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:105421200-105432600	Weak transcription	Gastric	stomach
38	chr3:105421200-105433400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:105421200-105436400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:105421200-105436600	Weak transcription	Brain Germinal Matrix	brain
41	chr3:105421200-105437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:105421200-105437200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:105421200-105437200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:105421200-105437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:105421200-105437600	Weak transcription	Brain Anterior Caudate	brain
46	chr3:105421200-105438000	Weak transcription	Aorta	Aorta
47	chr3:105421200-105438200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:105421200-105438800	Weak transcription	Esophagus	oesophagus
49	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon

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