Variant report

Variant	rs28503408
Chromosome Location	chr3:99794842-99794843
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	chr3:99793946..99797150-chr3:99800439..99803077,4	K562	blood:
2	chr3:99790868..99792575-chr3:99794274..99797056,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10049383	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1017968	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212525	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1021341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511177	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13064704	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13069311	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13093776	0.83[EUR][1000 genomes]
rs13093838	0.83[AMR][1000 genomes]
rs13323143	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1489816	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17379739	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17392948	0.83[AMR][1000 genomes]
rs17393059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291494	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291495	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28714363	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34922392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996634	0.83[AMR][1000 genomes]
rs35154249	0.83[AMR][1000 genomes]
rs35521705	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35669453	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35844878	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35885423	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279135	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4571265	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4928234	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62285461	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62285462	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62285471	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285473	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285478	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790535	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790877	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799379	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802422	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806178	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807176	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71313585	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7610486	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7620228	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7627991	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923470	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923471	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9810235	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9814359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815439	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823908	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828079	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832186	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9833888	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9833980	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9834484	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9837602	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9841186	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851645	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9852435	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9853823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9864437	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9873709	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9873878	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9875640	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9875664	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878931	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99767600-99801000	Weak transcription	HSMM	muscle
2	chr3:99787600-99795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:99791600-99795200	Weak transcription	Fetal Heart	heart
4	chr3:99791600-99795600	Enhancers	Fetal Intestine Large	intestine
5	chr3:99792200-99796800	Enhancers	Fetal Intestine Small	intestine
6	chr3:99792400-99795200	Enhancers	HepG2	liver
7	chr3:99792800-99795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:99793000-99795200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:99793000-99795200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr3:99793000-99795200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:99793000-99796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:99793000-99796600	Enhancers	Fetal Muscle Leg	muscle
13	chr3:99793200-99795000	Weak transcription	Fetal Stomach	stomach
14	chr3:99793200-99795200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:99793200-99795200	Weak transcription	Psoas Muscle	Psoas
16	chr3:99793200-99795200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:99793200-99795200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:99793200-99795200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:99793200-99795200	Weak transcription	NHDF-Ad	bronchial
20	chr3:99793200-99795400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:99793200-99795600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:99793200-99795600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:99793200-99795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:99793200-99795800	Enhancers	Primary T cells from cord blood	blood
25	chr3:99793200-99796200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:99793200-99796400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:99793200-99797800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:99793400-99795000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:99793400-99795000	Weak transcription	Osteobl	bone
30	chr3:99793400-99795200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:99793400-99795400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:99793400-99795800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:99793400-99795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:99793400-99795800	Weak transcription	Fetal Kidney	kidney
35	chr3:99793400-99799400	Weak transcription	NH-A	brain
36	chr3:99793400-99804400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:99793600-99795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:99793600-99795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:99793600-99795200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:99793600-99802800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:99793800-99795200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:99793800-99795800	Weak transcription	Left Ventricle	heart
43	chr3:99793800-99796000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:99793800-99796600	Weak transcription	Right Atrium	heart
45	chr3:99793800-99809800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:99794000-99795400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:99794000-99795400	Enhancers	Colon Smooth Muscle	Colon
48	chr3:99794000-99795600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr3:99794000-99795800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:99794000-99796600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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