Variant report

Variant	rs73088913
Chromosome Location	chr3:67542263-67542264
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	chr3:67541283..67543981-chr3:67568913..67571810,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs4856868	0.84[AFR][1000 genomes]
rs59148720	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60089485	1.00[EUR][1000 genomes]
rs61168063	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088904	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088905	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73088915	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088917	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088921	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088922	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73088924	1.00[EUR][1000 genomes]
rs73088925	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088934	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102398	0.94[EUR][1000 genomes]
rs73102399	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104313	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104321	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104329	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104334	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104340	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104342	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104352	0.94[EUR][1000 genomes]
rs73104355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104356	0.94[EUR][1000 genomes]
rs73104358	1.00[EUR][1000 genomes]
rs73104360	1.00[EUR][1000 genomes]
rs73104361	1.00[EUR][1000 genomes]
rs73104367	1.00[EUR][1000 genomes]
rs73104375	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67488000-67544200	Weak transcription	A549	lung
2	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:67492200-67545400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:67500800-67567000	Weak transcription	Pancreas	Pancrea
5	chr3:67504000-67559800	Weak transcription	Esophagus	oesophagus
6	chr3:67506600-67544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:67508200-67577600	Weak transcription	Spleen	Spleen
8	chr3:67511600-67560000	Weak transcription	Lung	lung
9	chr3:67511800-67565000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:67512200-67544000	Weak transcription	Adipose Nuclei	Adipose
11	chr3:67512200-67545200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:67512800-67542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:67512800-67544000	Weak transcription	Dnd41	blood
14	chr3:67512800-67544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:67512800-67554800	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:67513200-67544000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:67513200-67544600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:67513200-67545200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:67513200-67564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:67513400-67542600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:67513400-67567800	Weak transcription	NHLF	lung
22	chr3:67513600-67544200	Weak transcription	Liver	Liver
23	chr3:67513600-67559800	Weak transcription	NHDF-Ad	bronchial
24	chr3:67514600-67559800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:67516200-67545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:67517600-67542400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:67519200-67545600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:67519800-67557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:67520800-67559800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:67521600-67580400	Weak transcription	Stomach Mucosa	stomach
31	chr3:67522400-67542600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:67524200-67567000	Weak transcription	Placenta	Placenta
33	chr3:67526000-67542600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:67526800-67583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:67528200-67564400	Weak transcription	Fetal Lung	lung
36	chr3:67528200-67564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:67529000-67559200	Weak transcription	GM12878-XiMat	blood
38	chr3:67530200-67560200	Weak transcription	NHEK	skin
39	chr3:67530800-67548200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:67531400-67576200	Weak transcription	HMEC	breast
41	chr3:67533200-67577000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:67533400-67577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:67533600-67542400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:67534400-67576400	Weak transcription	Aorta	Aorta
45	chr3:67534600-67560000	Weak transcription	Right Ventricle	heart
46	chr3:67534600-67566200	Weak transcription	Gastric	stomach
47	chr3:67534800-67543600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:67534800-67544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:67534800-67544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:67534800-67545000	Weak transcription	Primary B cells from peripheral blood	blood

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