Variant report

Variant	rs2083528
Chromosome Location	chr3:143304854-143304855
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	chr3:143302745..143305016-chr3:143310291..143312385,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10513210	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11705715	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711068	1.00[CHB][hapmap]
rs11716124	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718728	1.00[CHB][hapmap]
rs11915421	1.00[CHB][hapmap]
rs11927016	1.00[CHB][hapmap]
rs13072761	1.00[CHB][hapmap]
rs16853767	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853866	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853903	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4024563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5003886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906926	1.00[ASN][1000 genomes]
rs62267818	1.00[ASN][1000 genomes]
rs6784124	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73867637	1.00[ASN][1000 genomes]
rs7627844	1.00[CHB][hapmap]
rs7652557	1.00[CHB][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:143277400-143310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:143284000-143306400	Weak transcription	Spleen	Spleen
4	chr3:143287000-143305000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:143291200-143305000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:143291600-143305000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:143292400-143305400	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:143294400-143317800	Weak transcription	Brain Substantia Nigra	brain
9	chr3:143294800-143309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:143296200-143313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:143297600-143320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr3:143298600-143305600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:143298600-143312600	Weak transcription	Gastric	stomach
15	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
16	chr3:143302000-143306200	Weak transcription	Esophagus	oesophagus
17	chr3:143302000-143311200	Weak transcription	Placenta	Placenta
18	chr3:143302600-143305200	Enhancers	Fetal Lung	lung
19	chr3:143303600-143306600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:143304000-143305800	Enhancers	GM12878-XiMat	blood
21	chr3:143304000-143306200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:143304200-143306400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:143304400-143306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:143304400-143306800	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:143304400-143306800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:143304600-143305000	Enhancers	Pancreas	Pancrea
27	chr3:143304600-143305000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr3:143304600-143305400	Enhancers	Adipose Nuclei	Adipose
29	chr3:143304600-143305600	Enhancers	Colonic Mucosa	Colon
30	chr3:143304600-143305800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:143304600-143306000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr3:143304600-143306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:143304600-143306000	Flanking Active TSS	Dnd41	blood
34	chr3:143304600-143306200	Enhancers	Small Intestine	intestine
35	chr3:143304600-143307200	Enhancers	Fetal Thymus	thymus
36	chr3:143304800-143305000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:143304800-143305000	Enhancers	Aorta	Aorta
38	chr3:143304800-143305200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:143304800-143305200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:143304800-143305200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:143304800-143305800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:143304800-143305800	Enhancers	Fetal Intestine Small	intestine
43	chr3:143304800-143306000	Enhancers	Primary B cells from cord blood	blood
44	chr3:143304800-143306000	Enhancers	Brain Hippocampus Middle	brain
45	chr3:143304800-143306400	Enhancers	Rectal Mucosa Donor 29	rectum

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