Variant report

Variant	rs34973048
Chromosome Location	chr3:143301111-143301112
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143300021..143302674-chr3:143306084..143308707,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10935498	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11707194	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11712583	0.84[AFR][1000 genomes]
rs1550509	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34224721	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4839645	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6771556	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6773748	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6779888	0.82[AFR][1000 genomes]
rs727114	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:44 , 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	chr3:143284000-143306400	Weak transcription	Spleen	Spleen
7	chr3:143286800-143302000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:143286800-143304400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:143286800-143304800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:143287000-143305000	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:143287400-143304800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:143289400-143303000	Weak transcription	Fetal Stomach	stomach
13	chr3:143289600-143304600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:143290600-143302400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:143290600-143304600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:143291000-143301400	Weak transcription	Lung	lung
17	chr3:143291000-143303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:143291000-143304600	Weak transcription	Adipose Nuclei	Adipose
19	chr3:143291200-143305000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:143291600-143301400	Weak transcription	Placenta	Placenta
21	chr3:143291600-143305000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:143292400-143305400	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:143293000-143304800	Weak transcription	Aorta	Aorta
24	chr3:143294200-143304800	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:143294400-143317800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:143294800-143309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:143295600-143301200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:143295800-143302600	Weak transcription	Fetal Lung	lung
29	chr3:143296200-143313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:143296800-143304000	Weak transcription	Ovary	ovary
31	chr3:143297400-143304600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:143297600-143304800	Weak transcription	Primary B cells from cord blood	blood
33	chr3:143297600-143320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:143297800-143303800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:143298600-143305600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:143298600-143312600	Weak transcription	Gastric	stomach
38	chr3:143298800-143304600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:143298800-143304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:143300200-143304600	Weak transcription	Pancreas	Pancrea
41	chr3:143300400-143303200	Enhancers	GM12878-XiMat	blood
42	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
43	chr3:143300600-143301200	Enhancers	Fetal Thymus	thymus
44	chr3:143300800-143301600	Strong transcription	Monocytes-CD14+_RO01746	blood

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