Variant report

Variant	rs58311212
Chromosome Location	chr3:143294356-143294357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143287808..143289876-chr3:143292386..143294679,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12494880	0.92[AFR][1000 genomes]
rs16853883	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16853885	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56156039	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60777877	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61084018	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763515	0.96[ASN][1000 genomes]
rs6768652	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6771178	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6771387	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6776465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796090	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6801430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806933	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6808665	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6808788	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73867678	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73867679	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73867680	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73867683	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:143270600-143304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:143277400-143301200	Weak transcription	Esophagus	oesophagus
4	chr3:143277400-143303600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:143277400-143310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:143279000-143296200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:143284000-143306400	Weak transcription	Spleen	Spleen
8	chr3:143284400-143299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:143285000-143300400	Weak transcription	Brain Anterior Caudate	brain
10	chr3:143285600-143296200	Weak transcription	Primary B cells from cord blood	blood
11	chr3:143286800-143295600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:143286800-143298000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:143286800-143300400	Weak transcription	GM12878-XiMat	blood
14	chr3:143286800-143302000	Weak transcription	Brain Angular Gyrus	brain
15	chr3:143286800-143304400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:143286800-143304800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:143287000-143297600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:143287000-143305000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:143287200-143297400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:143287400-143295800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:143287400-143304800	Weak transcription	Fetal Intestine Small	intestine
22	chr3:143289400-143303000	Weak transcription	Fetal Stomach	stomach
23	chr3:143289600-143304600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:143289800-143295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:143290400-143295000	Weak transcription	Ovary	ovary
26	chr3:143290600-143302400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:143290600-143304600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:143291000-143301400	Weak transcription	Lung	lung
29	chr3:143291000-143303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:143291000-143304600	Weak transcription	Adipose Nuclei	Adipose
31	chr3:143291200-143305000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:143291600-143301400	Weak transcription	Placenta	Placenta
33	chr3:143291600-143305000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:143292200-143294400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:143292400-143296000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:143292400-143305400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:143292600-143294400	Strong transcription	Brain Substantia Nigra	brain
38	chr3:143292600-143297200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:143293000-143295800	Strong transcription	Fetal Lung	lung
40	chr3:143293000-143304800	Weak transcription	Aorta	Aorta
41	chr3:143293400-143295000	Weak transcription	HUVEC	blood vessel
42	chr3:143293600-143294600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:143293600-143295200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:143293600-143301000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:143293800-143295200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:143294200-143294800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:143294200-143304800	Weak transcription	Brain Hippocampus Middle	brain

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