Variant report

Variant	rs6815231
Chromosome Location	chr4:100471486-100471487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10000018	0.90[EUR][1000 genomes]
rs10007794	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10008896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10008928	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009198	0.88[EUR][1000 genomes]
rs10013868	0.91[ASN][1000 genomes]
rs10013883	0.87[ASN][1000 genomes]
rs10019266	0.90[EUR][1000 genomes]
rs10020461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10022775	0.91[ASN][1000 genomes]
rs10026790	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10030937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031512	0.90[EUR][1000 genomes]
rs10516443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10516444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1057615	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11097668	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11933250	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11933337	0.89[ASN][1000 genomes]
rs11933520	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11933937	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11934921	0.89[ASN][1000 genomes]
rs11935423	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11935581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11937107	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11937273	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11943031	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11944749	0.89[ASN][1000 genomes]
rs11944750	0.91[ASN][1000 genomes]
rs11944752	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11946292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11946367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11946658	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11947558	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1491235	0.90[EUR][1000 genomes]
rs1503774	0.89[EUR][1000 genomes]
rs1503777	0.89[ASN][1000 genomes]
rs1503778	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17029108	0.90[EUR][1000 genomes]
rs17029163	0.89[ASN][1000 genomes]
rs17531824	0.93[ASN][1000 genomes]
rs17598226	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1800591	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1800804	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1873517	0.88[EUR][1000 genomes]
rs2089079	0.89[EUR][1000 genomes]
rs2255119	0.82[ASN][1000 genomes]
rs2637768	0.84[ASN][1000 genomes]
rs2718684	0.84[ASN][1000 genomes]
rs28368786	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28376611	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28431971	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28435607	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28444681	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28473262	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28497720	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28500697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851225	0.84[ASN][1000 genomes]
rs28595160	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28608631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28621060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28647519	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2866164	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28666735	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28678377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28704064	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28789770	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28849180	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2903201	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816873	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817083	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4423880	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45440196	0.89[ASN][1000 genomes]
rs6532820	0.90[EUR][1000 genomes]
rs6815416	0.89[ASN][1000 genomes]
rs6825248	0.90[ASN][1000 genomes]
rs6839296	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6841211	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6841282	0.86[ASN][1000 genomes]
rs6854911	0.91[ASN][1000 genomes]
rs72681967	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7656665	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7661453	0.90[EUR][1000 genomes]
rs7661656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7661964	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7682548	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7686425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687762	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7693203	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7693979	0.86[EUR][1000 genomes]
rs867380	0.89[EUR][1000 genomes]
rs867381	0.89[EUR][1000 genomes]
rs884274	0.89[EUR][1000 genomes]
rs9307240	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9990558	0.88[EUR][1000 genomes]
rs9997840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3584519	chr4:100323870-100477462	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3584523	chr4:100437553-100476549	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100458600-100484000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:100459400-100472200	Weak transcription	Liver	Liver
3	chr4:100459400-100477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:100462200-100472800	Weak transcription	Psoas Muscle	Psoas
5	chr4:100462200-100483800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:100463000-100472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:100464600-100483800	Weak transcription	Primary T cells from cord blood	blood
8	chr4:100464800-100484000	Weak transcription	HMEC	breast
9	chr4:100465200-100473600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:100465400-100484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:100465800-100473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:100466600-100484000	Weak transcription	Aorta	Aorta
13	chr4:100466800-100476400	Weak transcription	Left Ventricle	heart
14	chr4:100466800-100479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:100466800-100483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:100467200-100472200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:100467200-100484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:100468000-100483600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:100468200-100476800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:100468400-100472400	Weak transcription	Fetal Lung	lung
21	chr4:100468400-100475800	Weak transcription	HSMM	muscle
22	chr4:100468400-100484000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:100468600-100483800	Weak transcription	Pancreas	Pancrea
24	chr4:100468600-100483800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:100468600-100484000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:100468600-100484200	Weak transcription	Ovary	ovary
27	chr4:100468800-100483800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:100469000-100475400	Weak transcription	Fetal Kidney	kidney
29	chr4:100469000-100484000	Weak transcription	Lung	lung
30	chr4:100469000-100484200	Weak transcription	NHDF-Ad	bronchial
31	chr4:100469200-100482000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:100469800-100483800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:100470400-100472000	Weak transcription	HSMMtube	muscle
34	chr4:100470600-100472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:100470600-100473600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:100470600-100480600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:100470800-100473400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:100470800-100484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:100470800-100484000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:100471000-100471600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:100471000-100483600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:100471000-100484000	Weak transcription	Brain Substantia Nigra	brain
43	chr4:100471400-100483800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:100471400-100484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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