Variant report

Variant	rs6442123
Chromosome Location	chr3:48500286-48500287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48486886..48491367-chr3:48500074..48506067,6	K562	blood:
2	chr3:48499115..48502193-chr3:48502794..48505644,3	K562	blood:
3	chr3:48498585..48502236-chr3:48513240..48516310,3	K562	blood:
4	chr3:48493504..48495133-chr3:48498542..48501507,2	K562	blood:
5	chr3:48498934..48503338-chr3:48504611..48507641,8	MCF-7	breast:
6	chr3:48499666..48503460-chr3:48503849..48508877,4	MCF-7	breast:
7	chr3:48487031..48489751-chr3:48500210..48502174,2	MCF-7	breast:
8	chr3:48491396..48492980-chr3:48499258..48501238,2	K562	blood:
9	chr3:48490394..48493256-chr3:48499258..48502604,4	K562	blood:
10	chr3:48492997..48495746-chr3:48499460..48501743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164053	Chromatin interaction
ENSG00000213689	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000244380	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1037773	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10470686	0.94[EUR][1000 genomes]
rs1109227	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130170	0.94[EUR][1000 genomes]
rs11130171	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11712561	0.93[EUR][1000 genomes]
rs11797	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12487542	0.93[EUR][1000 genomes]
rs13069724	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13071337	0.93[EUR][1000 genomes]
rs13072012	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13076076	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13091785	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13314659	0.94[EUR][1000 genomes]
rs13324374	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1459242	0.88[EUR][1000 genomes]
rs1459249	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1459250	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1563736	0.93[EUR][1000 genomes]
rs1824363	0.97[ASN][1000 genomes]
rs1870444	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975844	0.93[EUR][1000 genomes]
rs2045554	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279077	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290822	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2362450	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2362452	0.88[EUR][1000 genomes]
rs28824259	0.93[EUR][1000 genomes]
rs2885509	0.88[EUR][1000 genomes]
rs2885510	0.88[EUR][1000 genomes]
rs3214041	0.94[EUR][1000 genomes]
rs34761139	0.93[EUR][1000 genomes]
rs35215722	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3774808	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4490383	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4858793	0.88[EUR][1000 genomes]
rs4858817	0.88[EUR][1000 genomes]
rs60512868	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442116	0.87[EUR][1000 genomes]
rs6442117	0.90[EUR][1000 genomes]
rs6442118	0.94[EUR][1000 genomes]
rs6442119	0.94[EUR][1000 genomes]
rs6442120	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6442124	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6764415	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6770470	0.93[EUR][1000 genomes]
rs6776700	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779262	0.88[EUR][1000 genomes]
rs6784322	0.91[EUR][1000 genomes]
rs6784541	0.91[EUR][1000 genomes]
rs6794875	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6796491	0.93[EUR][1000 genomes]
rs6800475	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6804774	0.93[EUR][1000 genomes]
rs6810060	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7126	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs725309	0.88[EUR][1000 genomes]
rs725310	0.88[EUR][1000 genomes]
rs73074358	0.93[EUR][1000 genomes]
rs734071	0.83[AMR][1000 genomes]
rs7618883	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630741	0.90[EUR][1000 genomes]
rs7634377	0.91[EUR][1000 genomes]
rs7635522	0.93[EUR][1000 genomes]
rs7636044	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636782	0.91[EUR][1000 genomes]
rs7639743	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7653691	0.89[EUR][1000 genomes]
rs898225	0.88[EUR][1000 genomes]
rs922075	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9311423	0.91[EUR][1000 genomes]
rs9311424	0.91[EUR][1000 genomes]
rs9809843	0.93[EUR][1000 genomes]
rs9812647	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9815103	0.89[EUR][1000 genomes]
rs9817615	0.93[ASN][1000 genomes]
rs9826195	0.93[EUR][1000 genomes]
rs9826247	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9838618	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9849509	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9862575	0.93[EUR][1000 genomes]
rs9864371	0.93[EUR][1000 genomes]
rs9864815	0.93[EUR][1000 genomes]
rs9875280	0.93[EUR][1000 genomes]
rs9876781	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9876891	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9881491	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9883759	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9883927	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1802114	chr3:48498822-48577670	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6442123	TMA7	cis	Muscle Skeletal	GTEx
rs6442123	TREX1	Cis_1M	lymphoblastoid	RTeQTL
rs6442123	RP11-24C3.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48489200-48506200	Weak transcription	Stomach Mucosa	stomach
2	chr3:48489200-48507400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:48489400-48500800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:48489600-48500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:48489600-48506400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:48489800-48506600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:48491000-48503200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:48491400-48503000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:48491400-48503000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:48491400-48503200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:48491400-48503200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:48491400-48506600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:48491600-48500400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:48491600-48502600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:48491600-48503000	Strong transcription	Adipose Nuclei	Adipose
16	chr3:48491600-48503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:48491800-48503200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:48491800-48506400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:48492000-48503200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:48492000-48503200	Strong transcription	Liver	Liver
21	chr3:48492000-48503600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:48492200-48503200	Strong transcription	Thymus	Thymus
23	chr3:48492200-48503400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:48492200-48503400	Strong transcription	Fetal Stomach	stomach
25	chr3:48492400-48502800	Strong transcription	Lung	lung
26	chr3:48492400-48503000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr3:48492400-48503000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:48492600-48501800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:48492600-48503000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:48492600-48503000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:48492600-48503000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:48492600-48503000	Strong transcription	Brain Germinal Matrix	brain
33	chr3:48492600-48503000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr3:48492600-48503200	Strong transcription	Primary T cells from cord blood	blood
35	chr3:48492600-48503200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:48492600-48503200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:48492600-48503200	Strong transcription	Dnd41	blood
38	chr3:48492600-48503400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:48492600-48503600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr3:48492600-48504400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:48492600-48505800	Strong transcription	Fetal Muscle Leg	muscle
42	chr3:48492600-48506000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:48492800-48502000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:48492800-48502800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr3:48492800-48503000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:48492800-48503000	Strong transcription	Brain Anterior Caudate	brain
47	chr3:48492800-48503000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr3:48492800-48503000	Strong transcription	Fetal Intestine Large	intestine
49	chr3:48492800-48503000	Strong transcription	GM12878-XiMat	blood
50	chr3:48492800-48503200	Strong transcription	Left Ventricle	heart

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