Variant report

Variant	rs58531834
Chromosome Location	chr3:142737357-142737358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142736107..142739008-chr3:142740597..142742983,2	K562	blood:
2	chr3:142731640..142734706-chr3:142736602..142739585,4	K562	blood:
3	chr3:142736965..142738865-chr3:142760719..142762498,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1107771	1.00[EUR][1000 genomes]
rs12107010	0.87[ASN][1000 genomes]
rs13321817	0.87[ASN][1000 genomes]
rs13322379	0.86[EUR][1000 genomes]
rs13322528	0.86[EUR][1000 genomes]
rs13325630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852899	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821646	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764683	0.86[EUR][1000 genomes]
rs6771415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781061	0.83[ASN][1000 genomes]
rs6782124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797880	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992541	0.87[ASN][1000 genomes]
rs72992555	0.86[EUR][1000 genomes]
rs7646915	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9289653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808897	0.87[ASN][1000 genomes]
rs9808965	0.87[ASN][1000 genomes]
rs9820824	0.87[ASN][1000 genomes]
rs9839114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877143	0.86[EUR][1000 genomes]
rs9881229	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9881390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883936	0.87[ASN][1000 genomes]
rs9990198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142721600-142739400	Weak transcription	Lung	lung
2	chr3:142721800-142739200	Weak transcription	Colonic Mucosa	Colon
3	chr3:142721800-142761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:142722000-142739000	Weak transcription	Right Ventricle	heart
5	chr3:142722000-142742400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:142722200-142739000	Weak transcription	Brain Angular Gyrus	brain
7	chr3:142722200-142743000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:142723600-142739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:142725800-142739000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:142727400-142764400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:142728000-142742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:142728400-142737400	Weak transcription	Left Ventricle	heart
13	chr3:142728400-142748400	Weak transcription	Spleen	Spleen
14	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
15	chr3:142729200-142758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:142729200-142765000	Strong transcription	Dnd41	blood
17	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
18	chr3:142729400-142739000	Weak transcription	Gastric	stomach
19	chr3:142729400-142740000	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:142729400-142741600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:142729400-142764800	Strong transcription	K562	blood
22	chr3:142729800-142764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:142729800-142765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:142730200-142743800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:142730200-142753400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:142730200-142765000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:142730200-142765000	Strong transcription	Fetal Thymus	thymus
28	chr3:142730400-142741600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:142730400-142742000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:142730400-142754200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:142730600-142753800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:142730800-142741400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:142730800-142758800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:142731000-142744400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:142731000-142749400	Strong transcription	Adipose Nuclei	Adipose
36	chr3:142731000-142754000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:142731200-142753800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:142732600-142741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:142732600-142754200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:142732800-142743800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:142732800-142759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:142732800-142765000	Strong transcription	HSMM	muscle
43	chr3:142733000-142743800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:142733000-142755000	Weak transcription	Stomach Mucosa	stomach
45	chr3:142733200-142744200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr3:142733200-142754200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:142733200-142764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:142733400-142750400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:142733800-142739600	Strong transcription	Hela-S3	cervix
50	chr3:142734000-142758800	Strong transcription	Liver	Liver

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