Variant report

Variant	rs73240309
Chromosome Location	chr3:142240223-142240224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10935464	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2229032	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28365824	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922731	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55994893	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56397702	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60001529	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66597875	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228757	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73228758	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73238195	0.88[EUR][1000 genomes]
rs73238200	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73238201	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73238202	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73240305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73240310	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240314	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240316	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240318	0.87[EUR][1000 genomes]
rs73240323	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73240328	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9858204	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
2	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
4	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
5	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:142203800-142255200	Weak transcription	Gastric	stomach
10	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
12	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
13	chr3:142209400-142271800	Weak transcription	HepG2	liver
14	chr3:142210400-142240600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:142211400-142240600	Weak transcription	Brain Germinal Matrix	brain
16	chr3:142212000-142251400	Weak transcription	Brain Anterior Caudate	brain
17	chr3:142218200-142251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:142220200-142251200	Weak transcription	NHDF-Ad	bronchial
19	chr3:142220200-142252400	Weak transcription	NHLF	lung
20	chr3:142220600-142253000	Weak transcription	HMEC	breast
21	chr3:142220800-142251400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:142221000-142249400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:142224200-142240400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:142225600-142241600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
26	chr3:142226400-142251800	Weak transcription	Lung	lung
27	chr3:142226600-142251000	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:142226600-142252200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:142228400-142240600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:142228600-142252600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:142228600-142253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:142229000-142244400	Weak transcription	Pancreas	Pancrea
33	chr3:142230600-142243000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:142231600-142255200	Weak transcription	Aorta	Aorta
35	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
36	chr3:142232400-142240800	Weak transcription	NHEK	skin
37	chr3:142232600-142240400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:142232600-142240400	Weak transcription	A549	lung
39	chr3:142232600-142240600	Weak transcription	NH-A	brain
40	chr3:142232600-142240800	Weak transcription	K562	blood
41	chr3:142233000-142252000	Weak transcription	HUVEC	blood vessel
42	chr3:142233200-142251000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:142233200-142251600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:142233600-142240400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:142233600-142255200	Weak transcription	Fetal Stomach	stomach
46	chr3:142233600-142271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:142234600-142240400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:142235200-142251000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:142236000-142242000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:142236000-142244200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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